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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1805087

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:236885200 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.191400 (72831/380518, ALFA)
G=0.209309 (55402/264690, TOPMED)
G=0.203043 (50989/251124, GnomAD_exome) (+ 28 more)
G=0.211366 (29609/140084, GnomAD)
G=0.209078 (25308/121046, ExAC)
G=0.21767 (17131/78700, PAGE_STUDY)
G=0.19015 (5373/28256, 14KJPN)
G=0.19165 (3212/16760, 8.3KJPN)
G=0.22036 (2866/13006, GO-ESP)
G=0.2216 (1419/6404, 1000G_30x)
G=0.2183 (1093/5008, 1000G)
G=0.2045 (916/4480, Estonian)
G=0.1993 (768/3854, ALSPAC)
G=0.2028 (752/3708, TWINSUK)
G=0.1341 (393/2930, KOREAN)
G=0.2198 (458/2084, HGDP_Stanford)
G=0.1217 (223/1832, Korea1K)
G=0.2734 (386/1412, HapMap)
G=0.2743 (310/1130, Daghestan)
G=0.202 (202/998, GoNL)
G=0.161 (101/626, Chileans)
G=0.098 (60/612, Vietnamese)
G=0.253 (152/600, NorthernSweden)
G=0.182 (97/534, MGP)
G=0.204 (62/304, FINRISK)
A=0.396 (91/230, SGDP_PRJ)
G=0.227 (49/216, Qatari)
G=0.125 (20/160, PharmGKB)
G=0.20 (8/40, GENOME_DK)
G=0.06 (2/34, Ancient Sardinia)
A=0.44 (7/16, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MTR : Missense Variant
Publications
164 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 396688 A=0.808141 G=0.191859
European Sub 335758 A=0.811605 G=0.188395
African Sub 17186 A=0.73548 G=0.26452
African Others Sub 606 A=0.706 G=0.294
African American Sub 16580 A=0.73655 G=0.26345
Asian Sub 7010 A=0.8802 G=0.1198
East Asian Sub 5012 A=0.8919 G=0.1081
Other Asian Sub 1998 A=0.8509 G=0.1491
Latin American 1 Sub 1572 A=0.8015 G=0.1985
Latin American 2 Sub 5324 A=0.8135 G=0.1865
South Asian Sub 5238 A=0.6972 G=0.3028
Other Sub 24600 A=0.81398 G=0.18602


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 380518 A=0.808600 G=0.191400
Allele Frequency Aggregator European Sub 325792 A=0.811220 G=0.188780
Allele Frequency Aggregator Other Sub 23186 A=0.81476 G=0.18524
Allele Frequency Aggregator African Sub 12396 A=0.73362 G=0.26638
Allele Frequency Aggregator Asian Sub 7010 A=0.8802 G=0.1198
Allele Frequency Aggregator Latin American 2 Sub 5324 A=0.8135 G=0.1865
Allele Frequency Aggregator South Asian Sub 5238 A=0.6972 G=0.3028
Allele Frequency Aggregator Latin American 1 Sub 1572 A=0.8015 G=0.1985
TopMed Global Study-wide 264690 A=0.790691 G=0.209309
gnomAD - Exomes Global Study-wide 251124 A=0.796957 G=0.203043
gnomAD - Exomes European Sub 135116 A=0.808668 G=0.191332
gnomAD - Exomes Asian Sub 48990 A=0.76407 G=0.23593
gnomAD - Exomes American Sub 34572 A=0.81580 G=0.18420
gnomAD - Exomes African Sub 16242 A=0.73439 G=0.26561
gnomAD - Exomes Ashkenazi Jewish Sub 10080 A=0.83204 G=0.16796
gnomAD - Exomes Other Sub 6124 A=0.8034 G=0.1966
gnomAD - Genomes Global Study-wide 140084 A=0.788634 G=0.211366
gnomAD - Genomes European Sub 75880 A=0.80550 G=0.19450
gnomAD - Genomes African Sub 41952 A=0.73803 G=0.26197
gnomAD - Genomes American Sub 13646 A=0.81760 G=0.18240
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.8248 G=0.1752
gnomAD - Genomes East Asian Sub 3130 A=0.8872 G=0.1128
gnomAD - Genomes Other Sub 2154 A=0.7976 G=0.2024
ExAC Global Study-wide 121046 A=0.790922 G=0.209078
ExAC Europe Sub 73102 A=0.80831 G=0.19169
ExAC Asian Sub 25116 A=0.75366 G=0.24634
ExAC American Sub 11564 A=0.81356 G=0.18644
ExAC African Sub 10358 A=0.73344 G=0.26656
ExAC Other Sub 906 A=0.789 G=0.211
The PAGE Study Global Study-wide 78700 A=0.78233 G=0.21767
The PAGE Study AfricanAmerican Sub 32516 A=0.73459 G=0.26541
The PAGE Study Mexican Sub 10810 A=0.81397 G=0.18603
The PAGE Study Asian Sub 8318 A=0.8181 G=0.1819
The PAGE Study PuertoRican Sub 7918 A=0.7941 G=0.2059
The PAGE Study NativeHawaiian Sub 4534 A=0.8858 G=0.1142
The PAGE Study Cuban Sub 4230 A=0.8300 G=0.1700
The PAGE Study Dominican Sub 3828 A=0.7941 G=0.2059
The PAGE Study CentralAmerican Sub 2450 A=0.8090 G=0.1910
The PAGE Study SouthAmerican Sub 1980 A=0.8268 G=0.1732
The PAGE Study NativeAmerican Sub 1260 A=0.7817 G=0.2183
The PAGE Study SouthAsian Sub 856 A=0.724 G=0.276
14KJPN JAPANESE Study-wide 28256 A=0.80985 G=0.19015
8.3KJPN JAPANESE Study-wide 16760 A=0.80835 G=0.19165
GO Exome Sequencing Project Global Study-wide 13006 A=0.77964 G=0.22036
GO Exome Sequencing Project European American Sub 8600 A=0.8021 G=0.1979
GO Exome Sequencing Project African American Sub 4406 A=0.7358 G=0.2642
1000Genomes_30x Global Study-wide 6404 A=0.7784 G=0.2216
1000Genomes_30x African Sub 1786 A=0.7184 G=0.2816
1000Genomes_30x Europe Sub 1266 A=0.8215 G=0.1785
1000Genomes_30x South Asian Sub 1202 A=0.6805 G=0.3195
1000Genomes_30x East Asian Sub 1170 A=0.8957 G=0.1043
1000Genomes_30x American Sub 980 A=0.812 G=0.188
1000Genomes Global Study-wide 5008 A=0.7817 G=0.2183
1000Genomes African Sub 1322 A=0.7156 G=0.2844
1000Genomes East Asian Sub 1008 A=0.8948 G=0.1052
1000Genomes Europe Sub 1006 A=0.8270 G=0.1730
1000Genomes South Asian Sub 978 A=0.679 G=0.321
1000Genomes American Sub 694 A=0.823 G=0.177
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.7955 G=0.2045
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8007 G=0.1993
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7972 G=0.2028
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.8659 G=0.1341
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.7802 G=0.2198
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.857 G=0.143
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.717 G=0.283
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.829 G=0.171
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.822 G=0.178
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.802 G=0.198
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.741 G=0.259
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.26 G=0.74
Korean Genome Project KOREAN Study-wide 1832 A=0.8783 G=0.1217
HapMap Global Study-wide 1412 A=0.7266 G=0.2734
HapMap African Sub 684 A=0.665 G=0.335
HapMap American Sub 490 A=0.767 G=0.233
HapMap Asian Sub 238 A=0.819 G=0.181
Genome-wide autozygosity in Daghestan Global Study-wide 1130 A=0.7257 G=0.2743
Genome-wide autozygosity in Daghestan Daghestan Sub 622 A=0.707 G=0.293
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.778 G=0.222
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.811 G=0.189
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.731 G=0.269
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.62 G=0.38
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.81 G=0.19
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.798 G=0.202
Chileans Chilean Study-wide 626 A=0.839 G=0.161
A Vietnamese Genetic Variation Database Global Study-wide 612 A=0.902 G=0.098
Northern Sweden ACPOP Study-wide 600 A=0.747 G=0.253
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.818 G=0.182
FINRISK Finnish from FINRISK project Study-wide 304 A=0.796 G=0.204
SGDP_PRJ Global Study-wide 230 A=0.396 G=0.604
Qatari Global Study-wide 216 A=0.773 G=0.227
PharmGKB Aggregated Global Study-wide 160 A=0.875 G=0.125
PharmGKB Aggregated PA140959355 Sub 160 A=0.875 G=0.125
The Danish reference pan genome Danish Study-wide 40 A=0.80 G=0.20
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 34 A=0.94 G=0.06
Siberian Global Study-wide 16 A=0.44 G=0.56
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 1 NC_000001.11:g.236885200A>G
GRCh37.p13 chr 1 NC_000001.10:g.237048500A>G
MTR RefSeqGene NG_008959.1:g.94920A>G
Gene: MTR, 5-methyltetrahydrofolate-homocysteine methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MTR transcript variant 2 NM_001291939.1:c.2603A>G D [GAC] > G [GGC] Coding Sequence Variant
methionine synthase isoform 2 NP_001278868.1:p.Asp868Gly D (Asp) > G (Gly) Missense Variant
MTR transcript variant 3 NM_001291940.2:c.1535A>G D [GAC] > G [GGC] Coding Sequence Variant
methionine synthase isoform 3 NP_001278869.1:p.Asp512Gly D (Asp) > G (Gly) Missense Variant
MTR transcript variant 1 NM_000254.3:c.2756A>G D [GAC] > G [GGC] Coding Sequence Variant
methionine synthase isoform 1 NP_000245.2:p.Asp919Gly D (Asp) > G (Gly) Missense Variant
MTR transcript variant X1 XM_011544194.4:c.2924A>G D [GAC] > G [GGC] Coding Sequence Variant
methionine synthase isoform X1 XP_011542496.1:p.Asp975Gly D (Asp) > G (Gly) Missense Variant
MTR transcript variant X2 XM_017001329.3:c.2771A>G D [GAC] > G [GGC] Coding Sequence Variant
methionine synthase isoform X2 XP_016856818.1:p.Asp924Gly D (Asp) > G (Gly) Missense Variant
MTR transcript variant X3 XM_005273141.6:c.2753A>G D [GAC] > G [GGC] Coding Sequence Variant
methionine synthase isoform X3 XP_005273198.1:p.Asp918Gly D (Asp) > G (Gly) Missense Variant
MTR transcript variant X4 XM_017001330.3:c.2735A>G D [GAC] > G [GGC] Coding Sequence Variant
methionine synthase isoform X4 XP_016856819.1:p.Asp912Gly D (Asp) > G (Gly) Missense Variant
MTR transcript variant X5 XM_047421182.1:c.2600A>G D [GAC] > G [GGC] Coding Sequence Variant
methionine synthase isoform X5 XP_047277138.1:p.Asp867Gly D (Asp) > G (Gly) Missense Variant
MTR transcript variant X6 XM_047421183.1:c.2582A>G D [GAC] > G [GGC] Coding Sequence Variant
methionine synthase isoform X6 XP_047277139.1:p.Asp861Gly D (Asp) > G (Gly) Missense Variant
MTR transcript variant X7 XM_047421184.1:c.2567A>G D [GAC] > G [GGC] Coding Sequence Variant
methionine synthase isoform X7 XP_047277140.1:p.Asp856Gly D (Asp) > G (Gly) Missense Variant
MTR transcript variant X7 XM_047421185.1:c.2564A>G D [GAC] > G [GGC] Coding Sequence Variant
methionine synthase isoform X7 XP_047277141.1:p.Asp855Gly D (Asp) > G (Gly) Missense Variant
MTR transcript variant X8 XM_047421186.1:c.2414A>G D [GAC] > G [GGC] Coding Sequence Variant
methionine synthase isoform X8 XP_047277142.1:p.Asp805Gly D (Asp) > G (Gly) Missense Variant
MTR transcript variant X9 XM_047421187.1:c.1820A>G D [GAC] > G [GGC] Coding Sequence Variant
methionine synthase isoform X9 XP_047277143.1:p.Asp607Gly D (Asp) > G (Gly) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G (allele ID: 141992 )
ClinVar Accession Disease Names Clinical Significance
RCV000015355.3 Neural tube defects, folate-sensitive, susceptibility to Risk-Factor
RCV000126868.5 not specified Benign
RCV000144923.2 Gastrointestinal stromal tumor Uncertain-Significance
RCV000398009.4 Disorders of Intracellular Cobalamin Metabolism Benign
RCV001519615.5 Methylcobalamin deficiency type cblG Benign
RCV001812069.3 not provided Benign
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= G
GRCh38.p14 chr 1 NC_000001.11:g.236885200= NC_000001.11:g.236885200A>G
GRCh37.p13 chr 1 NC_000001.10:g.237048500= NC_000001.10:g.237048500A>G
MTR RefSeqGene NG_008959.1:g.94920= NG_008959.1:g.94920A>G
MTR transcript variant 1 NM_000254.3:c.2756= NM_000254.3:c.2756A>G
MTR transcript variant 1 NM_000254.2:c.2756= NM_000254.2:c.2756A>G
MTR transcript variant 3 NM_001291940.2:c.1535= NM_001291940.2:c.1535A>G
MTR transcript variant 3 NM_001291940.1:c.1535= NM_001291940.1:c.1535A>G
MTR transcript variant 2 NM_001291939.1:c.2603= NM_001291939.1:c.2603A>G
MTR transcript variant X3 XM_005273141.6:c.2753= XM_005273141.6:c.2753A>G
MTR transcript variant X3 XM_005273141.5:c.2753= XM_005273141.5:c.2753A>G
MTR transcript variant X3 XM_005273141.4:c.2753= XM_005273141.4:c.2753A>G
MTR transcript variant X1 XM_005273141.3:c.2753= XM_005273141.3:c.2753A>G
MTR transcript variant X2 XM_005273141.2:c.2753= XM_005273141.2:c.2753A>G
MTR transcript variant X2 XM_005273141.1:c.2753= XM_005273141.1:c.2753A>G
MTR transcript variant X1 XM_011544194.4:c.2924= XM_011544194.4:c.2924A>G
MTR transcript variant X1 XM_011544194.3:c.2924= XM_011544194.3:c.2924A>G
MTR transcript variant X1 XM_011544194.2:c.2924= XM_011544194.2:c.2924A>G
MTR transcript variant X5 XM_011544194.1:c.2924= XM_011544194.1:c.2924A>G
MTR transcript variant X2 XM_017001329.3:c.2771= XM_017001329.3:c.2771A>G
MTR transcript variant X2 XM_017001329.2:c.2771= XM_017001329.2:c.2771A>G
MTR transcript variant X2 XM_017001329.1:c.2771= XM_017001329.1:c.2771A>G
MTR transcript variant X4 XM_017001330.3:c.2735= XM_017001330.3:c.2735A>G
MTR transcript variant X4 XM_017001330.2:c.2735= XM_017001330.2:c.2735A>G
MTR transcript variant X4 XM_017001330.1:c.2735= XM_017001330.1:c.2735A>G
MTR transcript variant X5 XM_047421182.1:c.2600= XM_047421182.1:c.2600A>G
MTR transcript variant X7 XM_047421184.1:c.2567= XM_047421184.1:c.2567A>G
MTR transcript variant X7 XM_047421185.1:c.2564= XM_047421185.1:c.2564A>G
MTR transcript variant 4 NM_001410942.1:c.2567= NM_001410942.1:c.2567A>G
MTR transcript variant X8 XM_047421186.1:c.2414= XM_047421186.1:c.2414A>G
MTR transcript variant X6 XM_047421183.1:c.2582= XM_047421183.1:c.2582A>G
MTR transcript variant X9 XM_047421187.1:c.1820= XM_047421187.1:c.1820A>G
methionine synthase isoform 1 NP_000245.2:p.Asp919= NP_000245.2:p.Asp919Gly
methionine synthase isoform 3 NP_001278869.1:p.Asp512= NP_001278869.1:p.Asp512Gly
methionine synthase isoform 2 NP_001278868.1:p.Asp868= NP_001278868.1:p.Asp868Gly
methionine synthase isoform X3 XP_005273198.1:p.Asp918= XP_005273198.1:p.Asp918Gly
methionine synthase isoform X1 XP_011542496.1:p.Asp975= XP_011542496.1:p.Asp975Gly
methionine synthase isoform X2 XP_016856818.1:p.Asp924= XP_016856818.1:p.Asp924Gly
methionine synthase isoform X4 XP_016856819.1:p.Asp912= XP_016856819.1:p.Asp912Gly
methionine synthase isoform X5 XP_047277138.1:p.Asp867= XP_047277138.1:p.Asp867Gly
methionine synthase isoform X7 XP_047277140.1:p.Asp856= XP_047277140.1:p.Asp856Gly
methionine synthase isoform X7 XP_047277141.1:p.Asp855= XP_047277141.1:p.Asp855Gly
methionine synthase isoform X8 XP_047277142.1:p.Asp805= XP_047277142.1:p.Asp805Gly
methionine synthase isoform X6 XP_047277139.1:p.Asp861= XP_047277139.1:p.Asp861Gly
methionine synthase isoform X9 XP_047277143.1:p.Asp607= XP_047277143.1:p.Asp607Gly
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

183 SubSNP, 31 Frequency, 6 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2961149 Apr 12, 2001 (94)
2 YUSUKE ss3211692 Sep 28, 2001 (100)
3 SC_JCM ss5772546 Feb 20, 2003 (111)
4 WUGSC_SSAHASNP ss14457700 Dec 05, 2003 (119)
5 CSHL-HAPMAP ss16445715 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19141926 Feb 27, 2004 (120)
7 PERLEGEN ss24276502 Sep 20, 2004 (123)
8 ABI ss43992346 Mar 13, 2006 (126)
9 SNP500CANCER ss48295814 Mar 13, 2006 (126)
10 AFFY ss65983298 Nov 30, 2006 (127)
11 AFFY ss66104884 Nov 30, 2006 (127)
12 ILLUMINA ss66609132 Nov 30, 2006 (127)
13 ILLUMINA ss67197140 Nov 30, 2006 (127)
14 ILLUMINA ss67586254 Nov 30, 2006 (127)
15 PERLEGEN ss68797693 May 17, 2007 (127)
16 ILLUMINA ss70675351 May 26, 2008 (130)
17 ILLUMINA ss71238373 May 17, 2007 (127)
18 ILLUMINA ss75479819 Dec 07, 2007 (129)
19 AFFY ss76077368 Dec 08, 2007 (130)
20 ILLUMINA ss79094325 Dec 15, 2007 (130)
21 KRIBB_YJKIM ss83877873 Dec 15, 2007 (130)
22 PHARMGKB_CREATE ss84173114 Dec 15, 2007 (130)
23 CORNELL ss86238155 Mar 23, 2008 (129)
24 1000GENOMES ss109063117 Jan 23, 2009 (130)
25 ILLUMINA ss121814733 Dec 01, 2009 (131)
26 ILLUMINA ss153737211 Dec 01, 2009 (131)
27 ILLUMINA ss159329896 Dec 01, 2009 (131)
28 SEATTLESEQ ss159700995 Dec 01, 2009 (131)
29 ILLUMINA ss160463268 Dec 01, 2009 (131)
30 ENSEMBL ss161232462 Dec 01, 2009 (131)
31 COMPLETE_GENOMICS ss165918430 Jul 04, 2010 (132)
32 ILLUMINA ss170816095 Jul 04, 2010 (132)
33 AFFY ss172421676 Jul 04, 2010 (132)
34 ILLUMINA ss172926471 Jul 04, 2010 (132)
35 BUSHMAN ss199793947 Jul 04, 2010 (132)
36 BCM-HGSC-SUB ss205113092 Jul 04, 2010 (132)
37 1000GENOMES ss218959600 Jul 14, 2010 (132)
38 1000GENOMES ss230960721 Jul 14, 2010 (132)
39 1000GENOMES ss238563536 Jul 15, 2010 (132)
40 ILLUMINA ss244285183 Jul 04, 2010 (132)
41 GMI ss276275526 May 04, 2012 (137)
42 NHLBI-ESP ss342038679 May 09, 2011 (134)
43 ILLUMINA ss480301698 May 04, 2012 (137)
44 ILLUMINA ss480312788 May 04, 2012 (137)
45 ILLUMINA ss481068862 Sep 08, 2015 (146)
46 ILLUMINA ss484948646 May 04, 2012 (137)
47 1000GENOMES ss489798939 May 04, 2012 (137)
48 EXOME_CHIP ss491313133 May 04, 2012 (137)
49 CLINSEQ_SNP ss491618319 May 04, 2012 (137)
50 ILLUMINA ss536992665 Sep 08, 2015 (146)
51 TISHKOFF ss555231387 Apr 25, 2013 (138)
52 SSMP ss648805201 Apr 25, 2013 (138)
53 ILLUMINA ss778841613 Sep 08, 2015 (146)
54 ILLUMINA ss780764499 Aug 21, 2014 (142)
55 ILLUMINA ss782920630 Sep 08, 2015 (146)
56 ILLUMINA ss783443752 Aug 21, 2014 (142)
57 ILLUMINA ss783883638 Sep 08, 2015 (146)
58 ILLUMINA ss825424843 Apr 01, 2015 (144)
59 ILLUMINA ss832175759 Sep 08, 2015 (146)
60 ILLUMINA ss832841905 Jul 12, 2019 (153)
61 ILLUMINA ss834302171 Sep 08, 2015 (146)
62 JMKIDD_LAB ss974440547 Aug 21, 2014 (142)
63 EVA-GONL ss976295914 Aug 21, 2014 (142)
64 JMKIDD_LAB ss1067433787 Aug 21, 2014 (142)
65 JMKIDD_LAB ss1068715984 Aug 21, 2014 (142)
66 1000GENOMES ss1295214152 Aug 21, 2014 (142)
67 HAMMER_LAB ss1397276854 Sep 08, 2015 (146)
68 DDI ss1426155743 Apr 01, 2015 (144)
69 CLINVAR ss1457618440 Nov 23, 2014 (142)
70 EVA_GENOME_DK ss1574776713 Apr 01, 2015 (144)
71 EVA_FINRISK ss1584016205 Apr 01, 2015 (144)
72 EVA_DECODE ss1585697807 Apr 01, 2015 (144)
73 EVA_UK10K_ALSPAC ss1602442378 Apr 01, 2015 (144)
74 EVA_UK10K_TWINSUK ss1645436411 Apr 01, 2015 (144)
75 EVA_EXAC ss1686130510 Apr 01, 2015 (144)
76 EVA_MGP ss1710949209 Apr 01, 2015 (144)
77 EVA_SVP ss1712416975 Apr 01, 2015 (144)
78 ILLUMINA ss1751907266 Sep 08, 2015 (146)
79 ILLUMINA ss1751907267 Sep 08, 2015 (146)
80 ILLUMINA ss1917744480 Feb 12, 2016 (147)
81 WEILL_CORNELL_DGM ss1919517391 Feb 12, 2016 (147)
82 ILLUMINA ss1946027885 Feb 12, 2016 (147)
83 ILLUMINA ss1946027886 Feb 12, 2016 (147)
84 ILLUMINA ss1958370938 Feb 12, 2016 (147)
85 ILLUMINA ss1958370939 Feb 12, 2016 (147)
86 JJLAB ss2020285296 Sep 14, 2016 (149)
87 ILLUMINA ss2094786983 Dec 20, 2016 (150)
88 ILLUMINA ss2095003157 Dec 20, 2016 (150)
89 USC_VALOUEV ss2148322470 Nov 08, 2017 (151)
90 HUMAN_LONGEVITY ss2171247443 Dec 20, 2016 (150)
91 SYSTEMSBIOZJU ss2624655720 Nov 08, 2017 (151)
92 ILLUMINA ss2632648299 Nov 08, 2017 (151)
93 ILLUMINA ss2635008747 Nov 08, 2017 (151)
94 GRF ss2698324981 Nov 08, 2017 (151)
95 ILLUMINA ss2710698101 Nov 08, 2017 (151)
96 GNOMAD ss2732391632 Nov 08, 2017 (151)
97 GNOMAD ss2746597661 Nov 08, 2017 (151)
98 GNOMAD ss2767807815 Nov 08, 2017 (151)
99 AFFY ss2984899001 Nov 08, 2017 (151)
100 AFFY ss2985542765 Nov 08, 2017 (151)
101 SWEGEN ss2988685207 Nov 08, 2017 (151)
102 ILLUMINA ss3021195275 Nov 08, 2017 (151)
103 ILLUMINA ss3021195276 Nov 08, 2017 (151)
104 BIOINF_KMB_FNS_UNIBA ss3023904240 Nov 08, 2017 (151)
105 CSHL ss3343979947 Nov 08, 2017 (151)
106 ILLUMINA ss3625569784 Oct 11, 2018 (152)
107 ILLUMINA ss3626342511 Oct 11, 2018 (152)
108 ILLUMINA ss3626342512 Oct 11, 2018 (152)
109 ILLUMINA ss3630677205 Oct 11, 2018 (152)
110 ILLUMINA ss3632930953 Oct 11, 2018 (152)
111 ILLUMINA ss3633627269 Oct 11, 2018 (152)
112 ILLUMINA ss3634380713 Oct 11, 2018 (152)
113 ILLUMINA ss3634380714 Oct 11, 2018 (152)
114 ILLUMINA ss3635320244 Oct 11, 2018 (152)
115 ILLUMINA ss3636059658 Oct 11, 2018 (152)
116 ILLUMINA ss3637070798 Oct 11, 2018 (152)
117 ILLUMINA ss3637822783 Oct 11, 2018 (152)
118 ILLUMINA ss3638926432 Oct 11, 2018 (152)
119 ILLUMINA ss3639462288 Oct 11, 2018 (152)
120 ILLUMINA ss3640088066 Oct 11, 2018 (152)
121 ILLUMINA ss3640088067 Oct 11, 2018 (152)
122 ILLUMINA ss3642828375 Oct 11, 2018 (152)
123 ILLUMINA ss3644523888 Oct 11, 2018 (152)
124 ILLUMINA ss3644523889 Oct 11, 2018 (152)
125 OMUKHERJEE_ADBS ss3646255913 Oct 11, 2018 (152)
126 ILLUMINA ss3651541205 Oct 11, 2018 (152)
127 ILLUMINA ss3651541206 Oct 11, 2018 (152)
128 ILLUMINA ss3653669222 Oct 11, 2018 (152)
129 EGCUT_WGS ss3656644059 Jul 12, 2019 (153)
130 EVA_DECODE ss3688911199 Jul 12, 2019 (153)
131 ILLUMINA ss3725119142 Jul 12, 2019 (153)
132 ACPOP ss3727988133 Jul 12, 2019 (153)
133 ILLUMINA ss3744063048 Jul 12, 2019 (153)
134 ILLUMINA ss3744362342 Jul 12, 2019 (153)
135 ILLUMINA ss3744681620 Jul 12, 2019 (153)
136 ILLUMINA ss3744681621 Jul 12, 2019 (153)
137 EVA ss3747514411 Jul 12, 2019 (153)
138 PAGE_CC ss3770882706 Jul 12, 2019 (153)
139 ILLUMINA ss3772182394 Jul 12, 2019 (153)
140 ILLUMINA ss3772182395 Jul 12, 2019 (153)
141 KHV_HUMAN_GENOMES ss3800516770 Jul 12, 2019 (153)
142 EVA ss3823731981 Apr 25, 2020 (154)
143 EVA ss3825591919 Apr 25, 2020 (154)
144 EVA ss3826719865 Apr 25, 2020 (154)
145 HGDP ss3847368344 Apr 25, 2020 (154)
146 SGDP_PRJ ss3851194313 Apr 25, 2020 (154)
147 KRGDB ss3896551082 Apr 25, 2020 (154)
148 KOGIC ss3946786655 Apr 25, 2020 (154)
149 FSA-LAB ss3983968551 Apr 25, 2021 (155)
150 FSA-LAB ss3983968552 Apr 25, 2021 (155)
151 EVA ss3984861501 Apr 25, 2021 (155)
152 EVA ss3986165572 Apr 25, 2021 (155)
153 EVA ss4016970238 Apr 25, 2021 (155)
154 TOPMED ss4488469246 Apr 25, 2021 (155)
155 TOMMO_GENOMICS ss5149080787 Apr 25, 2021 (155)
156 EVA ss5236880519 Apr 25, 2021 (155)
157 EVA ss5237167235 Apr 25, 2021 (155)
158 EVA ss5237284600 Apr 25, 2021 (155)
159 EVA ss5237634801 Oct 17, 2022 (156)
160 1000G_HIGH_COVERAGE ss5246290769 Oct 17, 2022 (156)
161 TRAN_CS_UWATERLOO ss5314399896 Oct 17, 2022 (156)
162 EVA ss5314694233 Oct 17, 2022 (156)
163 EVA ss5325689969 Oct 17, 2022 (156)
164 HUGCELL_USP ss5446678748 Oct 17, 2022 (156)
165 EVA ss5506239031 Oct 17, 2022 (156)
166 1000G_HIGH_COVERAGE ss5520630684 Oct 17, 2022 (156)
167 EVA ss5624004920 Oct 17, 2022 (156)
168 SANFORD_IMAGENETICS ss5624234093 Oct 17, 2022 (156)
169 SANFORD_IMAGENETICS ss5627728195 Oct 17, 2022 (156)
170 TOMMO_GENOMICS ss5677030633 Oct 17, 2022 (156)
171 EVA ss5799516328 Oct 17, 2022 (156)
172 EVA ss5800091401 Oct 17, 2022 (156)
173 YY_MCH ss5801766673 Oct 17, 2022 (156)
174 EVA ss5833463520 Oct 17, 2022 (156)
175 EVA ss5847177450 Oct 17, 2022 (156)
176 EVA ss5847579938 Oct 17, 2022 (156)
177 EVA ss5848289822 Oct 17, 2022 (156)
178 EVA ss5849350533 Oct 17, 2022 (156)
179 EVA ss5912543399 Oct 17, 2022 (156)
180 EVA ss5939579364 Oct 17, 2022 (156)
181 EVA ss5979309989 Oct 17, 2022 (156)
182 EVA ss5980024709 Oct 17, 2022 (156)
183 EVA ss5981325837 Oct 17, 2022 (156)
184 1000Genomes NC_000001.10 - 237048500 Oct 11, 2018 (152)
185 1000Genomes_30x NC_000001.11 - 236885200 Oct 17, 2022 (156)
186 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 237048500 Oct 11, 2018 (152)
187 Chileans NC_000001.10 - 237048500 Apr 25, 2020 (154)
188 Genome-wide autozygosity in Daghestan NC_000001.9 - 235115123 Apr 25, 2020 (154)
189 Genetic variation in the Estonian population NC_000001.10 - 237048500 Oct 11, 2018 (152)
190 ExAC NC_000001.10 - 237048500 Oct 11, 2018 (152)
191 FINRISK NC_000001.10 - 237048500 Apr 25, 2020 (154)
192 The Danish reference pan genome NC_000001.10 - 237048500 Apr 25, 2020 (154)
193 gnomAD - Genomes NC_000001.11 - 236885200 Apr 25, 2021 (155)
194 gnomAD - Exomes NC_000001.10 - 237048500 Jul 12, 2019 (153)
195 GO Exome Sequencing Project NC_000001.10 - 237048500 Oct 11, 2018 (152)
196 Genome of the Netherlands Release 5 NC_000001.10 - 237048500 Apr 25, 2020 (154)
197 HGDP-CEPH-db Supplement 1 NC_000001.9 - 235115123 Apr 25, 2020 (154)
198 HapMap NC_000001.11 - 236885200 Apr 25, 2020 (154)
199 KOREAN population from KRGDB NC_000001.10 - 237048500 Apr 25, 2020 (154)
200 Korean Genome Project NC_000001.11 - 236885200 Apr 25, 2020 (154)
201 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 237048500 Apr 25, 2020 (154)
202 Northern Sweden NC_000001.10 - 237048500 Jul 12, 2019 (153)
203 The PAGE Study NC_000001.11 - 236885200 Jul 12, 2019 (153)
204 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 237048500 Apr 25, 2021 (155)
205 PharmGKB Aggregated NC_000001.11 - 236885200 Apr 25, 2020 (154)
206 Qatari NC_000001.10 - 237048500 Apr 25, 2020 (154)
207 SGDP_PRJ NC_000001.10 - 237048500 Apr 25, 2020 (154)
208 Siberian NC_000001.10 - 237048500 Apr 25, 2020 (154)
209 8.3KJPN NC_000001.10 - 237048500 Apr 25, 2021 (155)
210 14KJPN NC_000001.11 - 236885200 Oct 17, 2022 (156)
211 TopMed NC_000001.11 - 236885200 Apr 25, 2021 (155)
212 UK 10K study - Twins NC_000001.10 - 237048500 Oct 11, 2018 (152)
213 A Vietnamese Genetic Variation Database NC_000001.10 - 237048500 Jul 12, 2019 (153)
214 ALFA NC_000001.11 - 236885200 Apr 25, 2021 (155)
215 ClinVar RCV000015355.3 Oct 17, 2022 (156)
216 ClinVar RCV000126868.5 Oct 17, 2022 (156)
217 ClinVar RCV000144923.2 Oct 17, 2022 (156)
218 ClinVar RCV000398009.4 Oct 17, 2022 (156)
219 ClinVar RCV001519615.5 Oct 17, 2022 (156)
220 ClinVar RCV001812069.3 Oct 17, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs17658739 Oct 07, 2004 (123)
rs56618494 May 26, 2008 (130)
rs61036243 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638926432, ss3639462288 NC_000001.8:233374540:A:G NC_000001.11:236885199:A:G (self)
37941, 46236, ss66104884, ss76077368, ss109063117, ss165918430, ss172421676, ss199793947, ss205113092, ss276275526, ss480301698, ss491618319, ss825424843, ss1397276854, ss1585697807, ss1712416975, ss2635008747, ss3642828375, ss3847368344 NC_000001.9:235115122:A:G NC_000001.11:236885199:A:G (self)
6089531, 3371841, 37065, 2382307, 5372813, 12666, 1945793, 1430493, 190483, 1474937, 3728476, 65961, 1272998, 87428, 1559321, 3211293, 838824, 7050094, 3371841, 733850, ss218959600, ss230960721, ss238563536, ss342038679, ss480312788, ss481068862, ss484948646, ss489798939, ss491313133, ss536992665, ss555231387, ss648805201, ss778841613, ss780764499, ss782920630, ss783443752, ss783883638, ss832175759, ss832841905, ss834302171, ss974440547, ss976295914, ss1067433787, ss1068715984, ss1295214152, ss1426155743, ss1574776713, ss1584016205, ss1602442378, ss1645436411, ss1686130510, ss1710949209, ss1751907266, ss1751907267, ss1917744480, ss1919517391, ss1946027885, ss1946027886, ss1958370938, ss1958370939, ss2020285296, ss2094786983, ss2095003157, ss2148322470, ss2624655720, ss2632648299, ss2698324981, ss2710698101, ss2732391632, ss2746597661, ss2767807815, ss2984899001, ss2985542765, ss2988685207, ss3021195275, ss3021195276, ss3343979947, ss3625569784, ss3626342511, ss3626342512, ss3630677205, ss3632930953, ss3633627269, ss3634380713, ss3634380714, ss3635320244, ss3636059658, ss3637070798, ss3637822783, ss3640088066, ss3640088067, ss3644523888, ss3644523889, ss3646255913, ss3651541205, ss3651541206, ss3653669222, ss3656644059, ss3727988133, ss3744063048, ss3744362342, ss3744681620, ss3744681621, ss3747514411, ss3772182394, ss3772182395, ss3823731981, ss3825591919, ss3826719865, ss3851194313, ss3896551082, ss3983968551, ss3983968552, ss3984861501, ss3986165572, ss4016970238, ss5149080787, ss5237284600, ss5314694233, ss5325689969, ss5506239031, ss5624004920, ss5624234093, ss5627728195, ss5799516328, ss5800091401, ss5833463520, ss5847177450, ss5847579938, ss5848289822, ss5939579364, ss5979309989, ss5980024709, ss5981325837 NC_000001.10:237048499:A:G NC_000001.11:236885199:A:G (self)
RCV000015355.3, RCV000126868.5, RCV000144923.2, RCV000398009.4, RCV001519615.5, RCV001812069.3, 8156619, 43626057, 298105, 3164656, 104175, 956, 10867737, 52075581, 5576553460, ss1457618440, ss2171247443, ss3023904240, ss3688911199, ss3725119142, ss3770882706, ss3800516770, ss3946786655, ss4488469246, ss5236880519, ss5237167235, ss5237634801, ss5246290769, ss5314399896, ss5446678748, ss5520630684, ss5677030633, ss5801766673, ss5849350533, ss5912543399 NC_000001.11:236885199:A:G NC_000001.11:236885199:A:G (self)
ss14457700, ss16445715, ss19141926 NT_004836.15:1806288:A:G NC_000001.11:236885199:A:G (self)
ss2961149, ss3211692, ss5772546, ss24276502, ss43992346, ss48295814, ss65983298, ss66609132, ss67197140, ss67586254, ss68797693, ss70675351, ss71238373, ss75479819, ss79094325, ss83877873, ss84173114, ss86238155, ss121814733, ss153737211, ss159329896, ss159700995, ss160463268, ss161232462, ss170816095, ss172926471, ss244285183 NT_167186.1:30566278:A:G NC_000001.11:236885199:A:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

164 citations for rs1805087
PMID Title Author Year Journal
9919998 The frequency of a common mutation of the methionine synthase gene in the Australian population and its relation to smoking and coronary artery disease. Wang XL et al. 1998 Journal of cardiovascular risk
17035141 Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Boyles AL et al. 2006 Environmental health perspectives
17119116 Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. Lim U et al. 2007 Blood
18098291 Folate metabolism genes, vegetable intake and renal cancer risk in central Europe. Moore LE et al. 2008 International journal of cancer
18191955 Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. Zhu Y et al. 2008 Mutation research
18199722 Dietary vitamin B6 intake and the risk of colorectal cancer. Theodoratou E et al. 2008 Cancer epidemiology, biomarkers & prevention
18203168 Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts. Boyles AL et al. 2008 American journal of medical genetics. Part A
18381459 Genetic variation in the one-carbon transfer pathway and ovarian cancer risk. Kelemen LE et al. 2008 Cancer research
18521744 BRCA1 promoter methylation is associated with increased mortality among women with breast cancer. Xu X et al. 2009 Breast cancer research and treatment
18708404 B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer. Xu X et al. 2008 Cancer epidemiology, biomarkers & prevention
18708408 Vitamins B2, B6, and B12 and risk of new colorectal adenomas in a randomized trial of aspirin use and folic acid supplementation. Figueiredo JC et al. 2008 Cancer epidemiology, biomarkers & prevention
18830263 Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma. Wang SS et al. 2009 Leukemia
18842806 Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations. DeVos L et al. 2008 The American journal of clinical nutrition
18992148 Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study. Küry S et al. 2008 BMC cancer
19064578 No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk. Stevens VL et al. 2008 Cancer epidemiology, biomarkers & prevention
19112534 Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma. Fan BJ et al. 2008 Molecular vision
19336559 Global DNA hypomethylation (LINE-1) in the normal colon and lifestyle characteristics and dietary and genetic factors. Figueiredo JC et al. 2009 Cancer epidemiology, biomarkers & prevention
19376481 One-carbon metabolism and breast cancer: an epidemiological perspective. Xu X et al. 2009 Journal of genetics and genomics = Yi chuan xue bao
19493349 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. Shaw GM et al. 2009 BMC medical genetics
19525478 Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study. Mälarstig A et al. 2009 Blood
19683694 Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. Martinez CA et al. 2009 American journal of obstetrics and gynecology
19706843 Alcohol consumption and genetic variation in methylenetetrahydrofolate reductase and 5-methyltetrahydrofolate-homocysteine methyltransferase in relation to breast cancer risk. Platek ME et al. 2009 Cancer epidemiology, biomarkers & prevention
19706844 Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis. Collin SM et al. 2009 Cancer epidemiology, biomarkers & prevention
19737740 Associations of folate and choline metabolism gene polymorphisms with orofacial clefts. Mostowska A et al. 2010 Journal of medical genetics
19776626 Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk. Steck SE et al. 2008 Journal of nutrigenetics and nutrigenomics
19936946 Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer. Hazra A et al. 2010 Cancer causes & control
20099281 Blood leukocyte DNA hypomethylation and gastric cancer risk in a high-risk Polish population. Hou L et al. 2010 International journal of cancer
20101025 Genetic variation in the folate metabolic pathway and risk of childhood leukemia. Lightfoot TJ et al. 2010 Blood
20111745 Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects. Lupo PJ et al. 2010 Journal of biomedicine & biotechnology
20490431 5-Methyltetrahydrofolate-homocysteine methyltransferase gene polymorphism (MTR) and risk of head and neck cancer. Galbiatti AL et al. 2010 Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas
20544798 Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal women. Summers CM et al. 2010 Birth defects research. Part A, Clinical and molecular teratology
20549016 MTHFR, MTR, and MTRR polymorphisms in relation to p16INK4A hypermethylation in mucosa of patients with colorectal cancer. Wettergren Y et al. 2010 Molecular medicine (Cambridge, Mass.)
20600216 Individual differences in arsenic metabolism and lung cancer in a case-control study in Cordoba, Argentina. Steinmaus C et al. 2010 Toxicology and applied pharmacology
20615890 A candidate gene study of folate-associated one carbon metabolism genes and colorectal cancer risk. Levine AJ et al. 2010 Cancer epidemiology, biomarkers & prevention
20670920 Association of genetic variation in cystathionine-beta-synthase and arsenic metabolism. Porter KE et al. 2010 Environmental research
20718043 Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. Locke AE et al. 2010 Genetic epidemiology
20811316 SLC19A1 pharmacogenomics summary. Yee SW et al. 2010 Pharmacogenetics and genomics
20813848 Plasma vitamins B2, B6, and B12, and related genetic variants as predictors of colorectal cancer risk. Eussen SJ et al. 2010 Cancer epidemiology, biomarkers & prevention
20960050 Dietary methyl donors, methyl metabolizing enzymes, and epigenetic regulators: diet-gene interactions and promoter CpG island hypermethylation in colorectal cancer. de Vogel S et al. 2011 Cancer causes & control
21036793 Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field. Ogino S et al. 2011 Gut
21146954 Genes and abdominal aortic aneurysm. Hinterseher I et al. 2011 Annals of vascular surgery
21178085 High intake of folate from food sources is associated with reduced risk of esophageal cancer in an Australian population. Ibiebele TI et al. 2011 The Journal of nutrition
21204206 Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population. Carter TC et al. 2011 American journal of medical genetics. Part A
21254359 Folate pathway and nonsyndromic cleft lip and palate. Blanton SH et al. 2011 Birth defects research. Part A, Clinical and molecular teratology
21274745 Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study. Levine AJ et al. 2011 Cancer causes & control
21349258 Folate and choline metabolism gene variants and development of uterine cervical carcinoma. Mostowska A et al. 2011 Clinical biochemistry
21429654 Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility. Szczepańska M et al. 2011 European journal of obstetrics, gynecology, and reproductive biology
21441680 Profiling single nucleotide polymorphisms (SNPs) across intracellular folate metabolic pathway in healthy Indians. Ghodke Y et al. 2011 The Indian journal of medical research
21467728 Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. Wakai K et al. 2011 Journal of epidemiology
21514219 Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Zhang B et al. 2011 The Lancet. Oncology
21533139 Predicting diabetic nephropathy using a multifactorial genetic model. Blech I et al. 2011 PloS one
21533266 Data integration workflow for search of disease driving genes and genetic variants. Karinen S et al. 2011 PloS one
21567207 Tetra primer ARMS-PCR relates folate/homocysteine pathway genes and ACE gene polymorphism with coronary artery disease. Masud R et al. 2011 Molecular and cellular biochemistry
21597034 The folate hydrolase 1561C>T polymorphism is associated with depressive symptoms in Puerto Rican adults. Ye X et al. 2011 Psychosomatic medicine
21610500 Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism. Schmidt RJ et al. 2011 Epidemiology (Cambridge, Mass.)
21615938 Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder. Aneiros-Guerrero A et al. 2011 BMC medical genetics
21618410 Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapy. Kamdar KY et al. 2011 Pediatric blood & cancer
21658613 Host genetics in follicular lymphoma. Cerhan JR et al. 2011 Best practice & research. Clinical haematology
21688148 Polymorphic variants of genes involved in homocysteine metabolism in celiac disease. Hozyasz KK et al. 2012 Molecular biology reports
21738611 B vitamins, methionine and alcohol intake and risk of colon cancer in relation to BRAF mutation and CpG island methylator phenotype (CIMP). Schernhammer ES et al. 2011 PloS one
21747588 Genetic variation in genes involved in folate and drug metabolism in a south Indian population. Rai PS et al. 2011 Indian journal of human genetics
21748308 Genetic variants in the folate pathway and risk of childhood acute lymphoblastic leukemia. Metayer C et al. 2011 Cancer causes & control
21857689 Folate and vitamin B12 in idiopathic male infertility. Murphy LE et al. 2011 Asian journal of andrology
21960995 Common variants of homocysteine metabolism pathway genes and risk of type 2 diabetes and related traits in Indians. Chauhan G et al. 2012 Experimental diabetes research
22021659 Genetic variation throughout the folate metabolic pathway influences negative symptom severity in schizophrenia. Roffman JL et al. 2013 Schizophrenia bulletin
22116453 Folate and vitamin B12-related genes and risk for omphalocele. Mills JL et al. 2012 Human genetics
22183302 Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population. Pawlik P et al. 2012 Molecular biology reports
22199995 The causal roles of vitamin B(12) and transcobalamin in prostate cancer: can Mendelian randomization analysis provide definitive answers? Collin SM et al. 2011 International journal of molecular epidemiology and genetics
22371529 DNA methylation in peripheral blood measured by LUMA is associated with breast cancer in a population-based study. Xu X et al. 2012 FASEB journal
22496743 Genetic variant of AMD1 is associated with obesity in urban Indian children. Tabassum R et al. 2012 PloS one
22616673 Global tests of P-values for multifactor dimensionality reduction models in selection of optimal number of target genes. Dai H et al. 2012 BioData mining
22719222 The polymorphisms in methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase, and the risk of colorectal cancer. Zhou D et al. 2012 International journal of biological sciences
22792358 Association between genetic variants in DNA and histone methylation and telomere length. Kim S et al. 2012 PloS one
22833659 Gender and single nucleotide polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 are significant predictors of plasma homocysteine normalized by RBC folate in healthy adults. Clifford AJ et al. 2012 The Journal of nutrition
22839213 Association of postmenopausal endogenous sex hormones with global methylation level of leukocyte DNA among Japanese women. Iwasaki M et al. 2012 BMC cancer
22957669 Association of dietary and genetic factors related to one-carbon metabolism with global methylation level of leukocyte DNA. Ono H et al. 2012 Cancer science
23139751 Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population. Rodriguez-Flores JL et al. 2012 PloS one
23276522 Genetic variation of fifteen folate metabolic pathway associated gene loci and the risk of incident head and neck carcinoma: the Women's Genome Health Study. Zee RY et al. 2013 Clinica chimica acta; international journal of clinical chemistry
23294634 Risk score modeling of multiple gene to gene interactions using aggregated-multifactor dimensionality reduction. Dai H et al. 2013 BioData mining
23401104 Folate-genetics and colorectal neoplasia: what we know and need to know next. Figueiredo JC et al. 2013 Molecular nutrition & food research
23446900 One-carbon metabolism factors and leukocyte telomere length. Liu JJ et al. 2013 The American journal of clinical nutrition
23560644 Polymorphisms in genes involved in the free-radical process in patients with sudden sensorineural hearing loss and Ménière's disease. Teranishi M et al. 2013 Free radical research
23656756 Single nucleotide polymorphisms in CETP, SLC46A1, SLC19A1, CD36, BCMO1, APOA5, and ABCA1 are significant predictors of plasma HDL in healthy adults. Clifford AJ et al. 2013 Lipids in health and disease
23940529 Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis. Lautner-Csorba O et al. 2013 PloS one
23946381 Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Ma X et al. 2014 Gut
23951366 Application of artificial neural networks to investigate one-carbon metabolism in Alzheimer's disease and healthy matched individuals. Coppedè F et al. 2013 PloS one
24048206 Neural tube defects, folic acid and methylation. Imbard A et al. 2013 International journal of environmental research and public health
24063603 Cancer-testis gene expression is associated with the methylenetetrahydrofolate reductase 677 C>T polymorphism in non-small cell lung carcinoma. Senses KM et al. 2013 BMC medical genetics
24103477 Methylenetetrahydrofolate reductase C677T and methionine synthase A2756G polymorphisms influence on leukocyte genomic DNA methylation level. Weiner AS et al. 2014 Gene
24130171 Global DNA methylation and one-carbon metabolism gene polymorphisms and the risk of breast cancer in the Sister Study. Deroo LA et al. 2014 Carcinogenesis
24500500 Gene promoter methylation in colorectal cancer and healthy adjacent mucosa specimens: correlation with physiological and pathological characteristics, and with biomarkers of one-carbon metabolism. Coppedè F et al. 2014 Epigenetics
24521996 Genetic variants and multiple myeloma risk: IMMEnSE validation of the best reported associations--an extensive replication of the associations from the candidate gene era. Martino A et al. 2014 Cancer epidemiology, biomarkers & prevention
24524080 The effect of multiple single nucleotide polymorphisms in the folic acid pathway genes on homocysteine metabolism. Liang S et al. 2014 BioMed research international
24534481 Association between TLR2, MTR, MTRR, XPC, TP73, TP53 genetic polymorphisms and gastric cancer: a meta-analysis. Cheng C et al. 2014 Clinics and research in hepatology and gastroenterology
24748989 Association of methionine synthase rs1801394 and methionine synthase reductase rs1805087 polymorphisms with meningioma in adults: A meta-analysis. Zeng XT et al. 2014 Biomedical reports
24956146 No association between MTR rs1805087 A > G polymorphism and non-Hodgkin lymphoma susceptibility: evidence from 11 486 subjects. He J et al. 2015 Leukemia & lymphoma
24991206 Polymorphisms in folate pathway and pemetrexed treatment outcome in patients with malignant pleural mesothelioma. Goricar K et al. 2014 Radiology and oncology
25227144 Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome. Angelini S et al. 2015 European journal of human genetics
25293959 Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects. Pangilinan F et al. 2014 BMC medical genetics
25315199 Genetic association and gene expression studies suggest that genetic variants in the SYNE1 and TNF genes are related to menstrual migraine. Rodriguez-Acevedo AJ et al. 2014 The journal of headache and pain
25337902 Single nucleotide polymorphisms of one-carbon metabolism and cancers of the esophagus, stomach, and liver in a Chinese population. Chang SC et al. 2014 PloS one
25506935 An integrative computational approach for prioritization of genomic variants. Dubchak I et al. 2014 PloS one
25604861 Single-nucleotide polymorphisms in one-carbon metabolism genes, Mediterranean diet and breast cancer risk: a case-control study in the Greek-Cypriot female population. Kakkoura MG et al. 2015 Genes & nutrition
25625218 Correlation of homocysteine metabolic enzymes gene polymorphism and mild cognitive impairment in the Xinjiang Uygur population. Luo M et al. 2015 Medical science monitor
25928231 Association of 42 SNPs with genetic risk for cervical cancer: an extensive meta-analysis. Wang S et al. 2015 BMC medical genetics
25962431 Association of the Asp312Asn and Lys751Gln polymorphisms in the XPD gene with the risk of non-Hodgkin's lymphoma: evidence from a meta-analysis. Chen S et al. 2015 Chinese journal of cancer
26196053 Association between genetic polymorphisms in folate-related enzyme genes and infertile men with non-obstructive azoospermia. Kim SY et al. 2015 Systems biology in reproductive medicine
26337056 Joint associations of folate, homocysteine and MTHFR, MTR and MTRR gene polymorphisms with dyslipidemia in a Chinese hypertensive population: a cross-sectional study. Li WX et al. 2015 Lipids in health and disease
26451011 Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas. Montazeri Z et al. 2016 International journal of epidemiology
27097558 Polymorphisms in the MTHFR and MTR genes and the risk of varicose veins in ethnical Russians. Shadrina AS et al. 2016 Biomarkers
27143935 Genetic association between interluekin-4 rs2243250 polymorphism and gastric cancer susceptibility: evidence based on a meta-analysis. Zhang C et al. 2016 OncoTargets and therapy
27342765 Genetic impairments in folate enzymes increase dependence on dietary choline for phosphatidylcholine production at the expense of betaine synthesis. Ganz AB et al. 2016 FASEB journal
27404801 Joint effects of folate intake and one-carbon-metabolizing genetic polymorphisms on breast cancer risk: a case-control study in China. Luo WP et al. 2016 Scientific reports
27473058 Associations between polymorphisms in folate-metabolizing genes and pancreatic cancer risk in Japanese subjects. Nakao H et al. 2016 BMC gastroenterology
27676277 Moving toward personalized medicine in rheumatoid arthritis: SNPs in methotrexate intracellular pathways are associated with methotrexate therapeutic outcome. Lima A et al. 2016 Pharmacogenomics
27690091 Intakes of Folate and Vitamin B12 and Biomarkers of Status in the Very Old: The Newcastle 85+ Study. Mendonça N et al. 2016 Nutrients
27803768 Polymorphisms of folate metabolism genes in patients with cirrhosis and hepatocellular carcinoma. Peres NP et al. 2016 World journal of hepatology
27808252 Functional variants of the 5-methyltetrahydrofolate-homocysteine methyltransferase gene significantly increase susceptibility to prostate cancer: Results from an ethnic Han Chinese population. Qu YY et al. 2016 Scientific reports
27822905 Associations between homocysteine metabolism related SNPs and carotid intima-media thickness: a Chinese sib pair study. Sun K et al. 2017 Journal of thrombosis and thrombolysis
27827401 Alcohol consumption, genetic variants in the alcohol- and folate metabolic pathways and colorectal cancer risk: the JPHC Study. Svensson T et al. 2016 Scientific reports
28094822 Analysis of methionine synthase (rs1805087) gene polymorphism in autism patients in Northern Iran. Haghiri R et al. 2016 Acta neurobiologiae experimentalis
28118645 A Polymorphism in the MTRR Gene Is Associated with Early Childhood Caries and Underweight. Antunes LA et al. 2017 Caries research
28250422 Components of the folate metabolic pathway and ADHD core traits: an exploration in eastern Indian probands. Saha T et al. 2017 Journal of human genetics
28405167 Genetic variants and increased risk of meningioma: an updated meta-analysis. Han XY et al. 2017 OncoTargets and therapy
28514598 The communal relation of MTHFR, MTR, ACE gene polymorphisms and hyperhomocysteinemia as conceivable risk of coronary artery disease. Masud R et al. 2017 Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme
28537809 Association of Three Single Nucleotide Polymorphisms in MTR and MTRR Genes with Lung Cancer in a Turkish Population. Aksoy-Sagirli P et al. 2017 Genetic testing and molecular biomarkers
28572465 Relationship Between Polymorphisms in Methotrexate Pathway Genes and Outcome of Methotrexate Treatment in a Cohort of 119 Patients with Juvenile Idiopathic Arthritis. Zajc Avramovič M et al. 2017 The Journal of rheumatology
28587068 Genetic Variants Involved in One-Carbon Metabolism: Polymorphism Frequencies and Differences in Homocysteine Concentrations in the Folic Acid Fortification Era. Steluti J et al. 2017 Nutrients
28770393 Association of neural tube defects with gene polymorphisms in one-carbon metabolic pathway. Cao L et al. 2018 Child's nervous system
28943344 Polymorphisms of the folate metabolizing enzymes: Association with SLE susceptibility and in silico analysis. Salimi S et al. 2017 Gene
29343135 Genetic polymorphisms in folate metabolism as risk for Down syndrome in the southern China. Jiajin L et al. 2019 The journal of maternal-fetal & neonatal medicine
29348398 Association Study of Polymorphisms in Genes Relevant to Vitamin B12 and Folate Metabolism with Childhood Autism Spectrum Disorder in a Han Chinese Population. Zhang Z et al. 2018 Medical science monitor
29369772 Polymorphisms in folate metabolism genes are associated with susceptibility to presbycusis. Manche SK et al. 2018 Life sciences
29407547 Genetic variants of the folate metabolic system and mild hyperhomocysteinemia may affect ADHD associated behavioral problems. Saha T et al. 2018 Progress in neuro-psychopharmacology & biological psychiatry
29662106 Pharmacogenetics of platinum-based chemotherapy: impact of DNA repair and folate metabolism gene polymorphisms on prognosis of non-small cell lung cancer patients. Pérez-Ramírez C et al. 2019 The pharmacogenomics journal
30337500 A single-nucleotide polymorphism (rs1805087) in the methionine synthase (METH) gene increases the risk of prostate cancer. Zhang X et al. 2018 Aging
30337837 Single nucleotide polymorphisms and sporadic colorectal cancer susceptibility: a field synopsis and meta-analysis. Wen J et al. 2018 Cancer cell international
30409984 Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. John SE et al. 2018 Scientific reports
30546311 Genetic Polymorphisms of TYMS, MTHFR, ATIC, MTR, and MTRR Are Related to the Outcome of Methotrexate Therapy for Rheumatoid Arthritis in a Chinese Population. Lv S et al. 2018 Frontiers in pharmacology
30587867 Polymorphisms in folic acid metabolism genes do not associate with cancer cachexia in Japanese gastrointestinal patients. Morishita T et al. 2018 Nagoya journal of medical science
30703610 Gene-environment interaction and maternal arsenic methylation efficiency during pregnancy. Gao S et al. 2019 Environment international
30899306 Polymorphisms in MTHFR, MTR, RFC1 and CßS genes involved in folate metabolism and thyroid cancer: a case-control study. Zara-Lopes T et al. 2019 Archives of medical science
30911047 Genetic polymorphisms in MTR are associated with non-syndromic congenital heart disease from a family-based case-control study in the Chinese population. Deng C et al. 2019 Scientific reports
31005971 The MTHFR 677C>T polymorphism is associated with unmetabolized folic acid in breast milk in a cohort of Canadian women. Page R et al. 2019 The American journal of clinical nutrition
31099277 Association of methionine synthase (rs1805087), methionine synthase reductase (rs1801394), and methylenetetrahydrofolate dehydrogenase 1 (rs2236225) genetic polymorphisms with recurrent implantation failure. Cho SH et al. 2021 Human fertility (Cambridge, England)
31181069 Influence of genetic factors on long-term treatment related neurocognitive complications, and on anxiety and depression in survivors of childhood acute lymphoblastic leukemia: The Petale study. Petrykey K et al. 2019 PloS one
31370354 Association of Polymorphisms in Genes Involved in One-Carbon Metabolism with MTHFR Methylation Levels. Coppedè F et al. 2019 International journal of molecular sciences
31549463 Associations between folate metabolism enzyme polymorphisms and breast cancer: A meta-analysis. Mo W et al. 2020 The breast journal
31817852 Plasma Homocysteine and Polymorphisms of Genes Involved in Folate Metabolism Correlate with DNMT1 Gene Methylation Levels. Coppedè F et al. 2019 Metabolites
32722923 The relationship between methionine synthase rs1805087 polymorphism and hematological cancers risk. Bai Y et al. 2020 Future oncology (London, England)
32770085 Update analysis on the association between Methionine synthase rs1805087 A/G variant and risk of prostate cancer. Zhang W et al. 2020 Scientific reports
33013017 Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis. Paradkar MU et al. 2020 Indian journal of clinical biochemistry
33195260 Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors. Martinelli M et al. 2020 Frontiers in cell and developmental biology
33274184 Folate System Gene Variant rs1801394 66A>G may have a Causal Role in Down Syndrome in the Eastern Indian Population. Chatterjee M et al. 2020 International journal of molecular and cellular medicine
33391382 Variants of Genes Involved in Metabolism of Folate Among Patients with Breast Cancer: Association of TYMS 3R Allele with Susceptibility to Breast Cancer and Metastasis. Rahimi Z et al. 2021 Iranian journal of pathology
34027569 Folate metabolizing gene polymorphisms and genetic vulnerability to preterm birth in Korean women. Kwon BN et al. 2021 Genes & genomics
34749329 ANALYSIS OF RELATIONSHIP BETWEEN POLYMORPHISM OF MTHFR (C677T), MTHFR (A1298C), MTR (A2756G) GENES IN THE DEVELOPMENT OF ISCHEMIC STROKE IN YOUNG PATIENTS. Mialovytska O et al. 2021 Georgian medical news
34975123 The risk stratification of coronary vascular disease as linked to homocysteine, its modulating genes, genetic polymorphisms, conventional predictors, and with antihypertensive medicaments. Masud R et al. 2021 The Chinese journal of physiology
34994003 One-carbon metabolism pathway genes and their non-association with the development of amyotrophic lateral sclerosis. de Lima NS et al. 2022 Journal of cellular biochemistry
35098008 Maternal polymorphic loci of rs1979277 serine hydroxymethyl transferase and rs1805087 5-methylenetetrahydrofolate are correlated with the development of fetal growth restriction: A case-control study. Efremova O et al. 2021 International journal of reproductive biomedicine
35207533 Association of the DNA Methyltransferase and Folate Cycle Enzymes' Gene Polymorphisms with Coronary Restenosis. Timizheva KB et al. 2022 Life (Basel, Switzerland)
35332781 Folate metabolism abnormalities in infertile patients with endometriosis. Guedes T et al. 2022 Biomarkers in medicine
35802641 Association between MTR A2756G polymorphism and susceptibility to congenital heart disease: A meta-analysis. Liu W et al. 2022 PloS one
35830630 Evidence of Association between MTRR and TNF-α Gene Polymorphisms and Oral Health-Related Quality of Life in Children with Anterior Open Bite. Teixeira EC et al. 2022 The Journal of clinical pediatric dentistry
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07