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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.

rs3737967

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:11787392 (GRCh38.p13) 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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.042582 (11271/264690, TOPMED)
A=0.042703 (8318/194786, ALFA)
A=0.056996 (8158/143132, GnomAD_exome) (+ 20 more)
A=0.039755 (5574/140208, GnomAD)
A=0.04721 (3715/78692, PAGE_STUDY)
A=0.09111 (1527/16760, 8.3KJPN)
A=0.09481 (1103/11634, ExAC)
A=0.0743 (372/5008, 1000G)
A=0.0379 (170/4480, Estonian)
A=0.0522 (201/3854, ALSPAC)
A=0.0494 (183/3708, TWINSUK)
A=0.0910 (266/2922, KOREAN)
A=0.0895 (164/1832, Korea1K)
A=0.039 (39/998, GoNL)
A=0.038 (23/600, NorthernSweden)
A=0.037 (20/534, MGP)
A=0.060 (19/318, HapMap)
A=0.009 (2/216, Qatari)
A=0.219 (46/210, Vietnamese)
G=0.46 (36/78, SGDP_PRJ)
A=0.12 (5/40, GENOME_DK)
G=0.5 (5/10, Siberian)
A=0.5 (5/10, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
C1orf167 : Missense Variant
MTHFR : 3 Prime UTR Variant
Publications
9 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 194786 G=0.957297 A=0.042703
European Sub 164314 G=0.957472 A=0.042528
African Sub 9190 G=0.9714 A=0.0286
African Others Sub 300 G=0.973 A=0.027
African American Sub 8890 G=0.9713 A=0.0287
Asian Sub 756 G=0.848 A=0.152
East Asian Sub 594 G=0.875 A=0.125
Other Asian Sub 162 G=0.747 A=0.253
Latin American 1 Sub 1080 G=0.9676 A=0.0324
Latin American 2 Sub 6208 G=0.9514 A=0.0486
South Asian Sub 190 G=0.879 A=0.121
Other Sub 13048 G=0.95463 A=0.04537


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
TopMed Global Study-wide 264690 G=0.957418 A=0.042582
Allele Frequency Aggregator Total Global 194786 G=0.957297 A=0.042703
Allele Frequency Aggregator European Sub 164314 G=0.957472 A=0.042528
Allele Frequency Aggregator Other Sub 13048 G=0.95463 A=0.04537
Allele Frequency Aggregator African Sub 9190 G=0.9714 A=0.0286
Allele Frequency Aggregator Latin American 2 Sub 6208 G=0.9514 A=0.0486
Allele Frequency Aggregator Latin American 1 Sub 1080 G=0.9676 A=0.0324
Allele Frequency Aggregator Asian Sub 756 G=0.848 A=0.152
Allele Frequency Aggregator South Asian Sub 190 G=0.879 A=0.121
gnomAD - Exomes Global Study-wide 143132 G=0.943004 A=0.056996
gnomAD - Exomes European Sub 69638 G=0.96075 A=0.03925
gnomAD - Exomes Asian Sub 31786 G=0.87636 A=0.12364
gnomAD - Exomes American Sub 23094 G=0.95791 A=0.04209
gnomAD - Exomes Ashkenazi Jewish Sub 7890 G=0.9830 A=0.0170
gnomAD - Exomes African Sub 6644 G=0.9725 A=0.0275
gnomAD - Exomes Other Sub 4080 G=0.9495 A=0.0505
gnomAD - Genomes Global Study-wide 140208 G=0.960245 A=0.039755
gnomAD - Genomes European Sub 75932 G=0.95845 A=0.04155
gnomAD - Genomes African Sub 42012 G=0.96925 A=0.03075
gnomAD - Genomes American Sub 13660 G=0.95776 A=0.04224
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.9822 A=0.0178
gnomAD - Genomes East Asian Sub 3130 G=0.8748 A=0.1252
gnomAD - Genomes Other Sub 2154 G=0.9540 A=0.0460
The PAGE Study Global Study-wide 78692 G=0.95279 A=0.04721
The PAGE Study AfricanAmerican Sub 32510 G=0.97007 A=0.02993
The PAGE Study Mexican Sub 10810 G=0.95745 A=0.04255
The PAGE Study Asian Sub 8318 G=0.8913 A=0.1087
The PAGE Study PuertoRican Sub 7918 G=0.9614 A=0.0386
The PAGE Study NativeHawaiian Sub 4534 G=0.9027 A=0.0973
The PAGE Study Cuban Sub 4228 G=0.9697 A=0.0303
The PAGE Study Dominican Sub 3828 G=0.9723 A=0.0277
The PAGE Study CentralAmerican Sub 2450 G=0.9563 A=0.0437
The PAGE Study SouthAmerican Sub 1982 G=0.9546 A=0.0454
The PAGE Study NativeAmerican Sub 1258 G=0.9388 A=0.0612
The PAGE Study SouthAsian Sub 856 G=0.856 A=0.144
8.3KJPN JAPANESE Study-wide 16760 G=0.90889 A=0.09111
ExAC Global Study-wide 11634 G=0.90519 A=0.09481
ExAC Asian Sub 5914 G=0.8478 A=0.1522
ExAC Europe Sub 4486 G=0.9637 A=0.0363
ExAC African Sub 858 G=0.969 A=0.031
ExAC American Sub 250 G=0.960 A=0.040
ExAC Other Sub 126 G=0.976 A=0.024
1000Genomes Global Study-wide 5008 G=0.9257 A=0.0743
1000Genomes African Sub 1322 G=0.9773 A=0.0227
1000Genomes East Asian Sub 1008 G=0.8829 A=0.1171
1000Genomes Europe Sub 1006 G=0.9662 A=0.0338
1000Genomes South Asian Sub 978 G=0.835 A=0.165
1000Genomes American Sub 694 G=0.958 A=0.042
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9621 A=0.0379
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9478 A=0.0522
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9506 A=0.0494
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9090 A=0.0910
Korean Genome Project KOREAN Study-wide 1832 G=0.9105 A=0.0895
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.961 A=0.039
Northern Sweden ACPOP Study-wide 600 G=0.962 A=0.038
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.963 A=0.037
HapMap Global Study-wide 318 G=0.940 A=0.060
HapMap African Sub 116 G=0.966 A=0.034
HapMap American Sub 116 G=0.931 A=0.069
HapMap Asian Sub 86 G=0.92 A=0.08
Qatari Global Study-wide 216 G=0.991 A=0.009
A Vietnamese Genetic Variation Database Global Study-wide 210 G=0.781 A=0.219
SGDP_PRJ Global Study-wide 78 G=0.46 A=0.54
The Danish reference pan genome Danish Study-wide 40 G=0.88 A=0.12
Siberian Global Study-wide 10 G=0.5 A=0.5
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.p13 chr 1 NC_000001.11:g.11787392G>A
GRCh37.p13 chr 1 NC_000001.10:g.11847449G>A
MTHFR RefSeqGene (LRG_726) NG_013351.1:g.23712C>T
Gene: MTHFR, methylenetetrahydrofolate reductase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MTHFR transcript variant 2 NM_005957.5:c.*3288= N/A 3 Prime UTR Variant
MTHFR transcript variant 1 NM_001330358.2:c.*3288= N/A 3 Prime UTR Variant
MTHFR transcript variant X3 XM_005263460.5:c. N/A Genic Downstream Transcript Variant
MTHFR transcript variant X4 XM_005263462.4:c. N/A Genic Downstream Transcript Variant
MTHFR transcript variant X6 XM_005263463.4:c. N/A Genic Downstream Transcript Variant
MTHFR transcript variant X1 XM_011541495.3:c. N/A Genic Downstream Transcript Variant
MTHFR transcript variant X2 XM_011541496.3:c. N/A Genic Downstream Transcript Variant
MTHFR transcript variant X5 XM_017001328.2:c. N/A Genic Downstream Transcript Variant
MTHFR transcript variant X7 XM_024447198.1:c. N/A Genic Downstream Transcript Variant
MTHFR transcript variant X8 XR_002956640.1:n. N/A Genic Downstream Transcript Variant
Gene: C1orf167, chromosome 1 open reading frame 167 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
C1orf167 transcript NM_001010881.2:c.3572G>A R [CGC] > H [CAC] Coding Sequence Variant
uncharacterized protein C1orf167 NP_001010881.1:p.Arg1191H…

NP_001010881.1:p.Arg1191His

R (Arg) > H (His) Missense Variant
C1orf167 transcript variant X12 XM_011541278.2:c.3707G>A R [CGC] > H [CAC] Coding Sequence Variant
uncharacterized protein C1orf167 isoform X7 XP_011539580.1:p.Arg1236H…

XP_011539580.1:p.Arg1236His

R (Arg) > H (His) Missense Variant
C1orf167 transcript variant X1 XM_024446506.1:c.3707G>A R [CGC] > H [CAC] Coding Sequence Variant
uncharacterized protein C1orf167 isoform X1 XP_024302274.1:p.Arg1236H…

XP_024302274.1:p.Arg1236His

R (Arg) > H (His) Missense Variant
C1orf167 transcript variant X2 XM_024446507.1:c.3707G>A R [CGC] > H [CAC] Coding Sequence Variant
uncharacterized protein C1orf167 isoform X1 XP_024302275.1:p.Arg1236H…

XP_024302275.1:p.Arg1236His

R (Arg) > H (His) Missense Variant
C1orf167 transcript variant X3 XM_024446508.1:c.3707G>A R [CGC] > H [CAC] Coding Sequence Variant
uncharacterized protein C1orf167 isoform X1 XP_024302276.1:p.Arg1236H…

XP_024302276.1:p.Arg1236His

R (Arg) > H (His) Missense Variant
C1orf167 transcript variant X4 XM_024446509.1:c.3707G>A R [CGC] > H [CAC] Coding Sequence Variant
uncharacterized protein C1orf167 isoform X1 XP_024302277.1:p.Arg1236H…

XP_024302277.1:p.Arg1236His

R (Arg) > H (His) Missense Variant
C1orf167 transcript variant X5 XM_024446512.1:c.3653G>A R [CGC] > H [CAC] Coding Sequence Variant
uncharacterized protein C1orf167 isoform X2 XP_024302280.1:p.Arg1218H…

XP_024302280.1:p.Arg1218His

R (Arg) > H (His) Missense Variant
C1orf167 transcript variant X6 XM_011541272.3:c.3707G>A R [CGC] > H [CAC] Coding Sequence Variant
uncharacterized protein C1orf167 isoform X3 XP_011539574.1:p.Arg1236H…

XP_011539574.1:p.Arg1236His

R (Arg) > H (His) Missense Variant
C1orf167 transcript variant X7 XM_024446514.1:c.3572G>A R [CGC] > H [CAC] Coding Sequence Variant
uncharacterized protein C1orf167 isoform X4 XP_024302282.1:p.Arg1191H…

XP_024302282.1:p.Arg1191His

R (Arg) > H (His) Missense Variant
C1orf167 transcript variant X8 XM_024446515.1:c.3572G>A R [CGC] > H [CAC] Coding Sequence Variant
uncharacterized protein C1orf167 isoform X4 XP_024302283.1:p.Arg1191H…

XP_024302283.1:p.Arg1191His

R (Arg) > H (His) Missense Variant
C1orf167 transcript variant X9 XM_024446517.1:c.3572G>A R [CGC] > H [CAC] Coding Sequence Variant
uncharacterized protein C1orf167 isoform X4 XP_024302285.1:p.Arg1191H…

XP_024302285.1:p.Arg1191His

R (Arg) > H (His) Missense Variant
C1orf167 transcript variant X10 XM_011541276.3:c.3707G>A R [CGC] > H [CAC] Coding Sequence Variant
uncharacterized protein C1orf167 isoform X5 XP_011539578.1:p.Arg1236H…

XP_011539578.1:p.Arg1236His

R (Arg) > H (His) Missense Variant
C1orf167 transcript variant X11 XM_011541277.3:c.3707G>A R [CGC] > H [CAC] Coding Sequence Variant
uncharacterized protein C1orf167 isoform X6 XP_011539579.1:p.Arg1236H…

XP_011539579.1:p.Arg1236His

R (Arg) > H (His) Missense Variant
C1orf167 transcript variant X13 XM_024446518.1:c.1988G>A R [CGC] > H [CAC] Coding Sequence Variant
uncharacterized protein C1orf167 isoform X8 XP_024302286.1:p.Arg663His R (Arg) > H (His) 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.

Not Reported in ClinVar
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 G= A
GRCh38.p13 chr 1 NC_000001.11:g.11787392= NC_000001.11:g.11787392G>A
GRCh37.p13 chr 1 NC_000001.10:g.11847449= NC_000001.10:g.11847449G>A
MTHFR RefSeqGene (LRG_726) NG_013351.1:g.23712= NG_013351.1:g.23712C>T
MTHFR transcript variant 2 NM_005957.5:c.*3288= NM_005957.5:c.*3288C>T
MTHFR transcript variant 2 NM_005957.4:c.*3288= NM_005957.4:c.*3288C>T
MTHFR transcript variant 1 NM_001330358.2:c.*3288= NM_001330358.2:c.*3288C>T
MTHFR transcript variant 1 NM_001330358.1:c.*3288= NM_001330358.1:c.*3288C>T
C1orf167 transcript variant X6 XM_011541272.3:c.3707= XM_011541272.3:c.3707G>A
C1orf167 transcript variant X10 XM_011541276.3:c.3707= XM_011541276.3:c.3707G>A
C1orf167 transcript variant X11 XM_011541277.3:c.3707= XM_011541277.3:c.3707G>A
C1orf167 transcript NM_001010881.2:c.3572= NM_001010881.2:c.3572G>A
C1orf167 transcript NM_001010881.1:c.3572= NM_001010881.1:c.3572G>A
C1orf167 transcript variant X12 XM_011541278.2:c.3707= XM_011541278.2:c.3707G>A
C1orf167 transcript variant X3 XM_024446508.1:c.3707= XM_024446508.1:c.3707G>A
C1orf167 transcript variant X2 XM_024446507.1:c.3707= XM_024446507.1:c.3707G>A
C1orf167 transcript variant X8 XM_024446515.1:c.3572= XM_024446515.1:c.3572G>A
C1orf167 transcript variant X1 XM_024446506.1:c.3707= XM_024446506.1:c.3707G>A
C1orf167 transcript variant X4 XM_024446509.1:c.3707= XM_024446509.1:c.3707G>A
C1orf167 transcript variant X5 XM_024446512.1:c.3653= XM_024446512.1:c.3653G>A
C1orf167 transcript variant X7 XM_024446514.1:c.3572= XM_024446514.1:c.3572G>A
C1orf167 transcript variant X9 XM_024446517.1:c.3572= XM_024446517.1:c.3572G>A
C1orf167 transcript variant X13 XM_024446518.1:c.1988= XM_024446518.1:c.1988G>A
uncharacterized protein C1orf167 isoform X3 XP_011539574.1:p.Arg1236= XP_011539574.1:p.Arg1236His
uncharacterized protein C1orf167 isoform X5 XP_011539578.1:p.Arg1236= XP_011539578.1:p.Arg1236His
uncharacterized protein C1orf167 isoform X6 XP_011539579.1:p.Arg1236= XP_011539579.1:p.Arg1236His
uncharacterized protein C1orf167 NP_001010881.1:p.Arg1191= NP_001010881.1:p.Arg1191His
uncharacterized protein C1orf167 isoform X7 XP_011539580.1:p.Arg1236= XP_011539580.1:p.Arg1236His
uncharacterized protein C1orf167 isoform X1 XP_024302276.1:p.Arg1236= XP_024302276.1:p.Arg1236His
uncharacterized protein C1orf167 isoform X1 XP_024302275.1:p.Arg1236= XP_024302275.1:p.Arg1236His
uncharacterized protein C1orf167 isoform X4 XP_024302283.1:p.Arg1191= XP_024302283.1:p.Arg1191His
uncharacterized protein C1orf167 isoform X1 XP_024302274.1:p.Arg1236= XP_024302274.1:p.Arg1236His
uncharacterized protein C1orf167 isoform X1 XP_024302277.1:p.Arg1236= XP_024302277.1:p.Arg1236His
uncharacterized protein C1orf167 isoform X2 XP_024302280.1:p.Arg1218= XP_024302280.1:p.Arg1218His
uncharacterized protein C1orf167 isoform X4 XP_024302282.1:p.Arg1191= XP_024302282.1:p.Arg1191His
uncharacterized protein C1orf167 isoform X4 XP_024302285.1:p.Arg1191= XP_024302285.1:p.Arg1191His
uncharacterized protein C1orf167 isoform X8 XP_024302286.1:p.Arg663= XP_024302286.1:p.Arg663His
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#.

80 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4923966 Aug 28, 2002 (107)
2 ILLUMINA ss160633392 Dec 01, 2009 (131)
3 1000GENOMES ss218238390 Jul 14, 2010 (132)
4 1000GENOMES ss230427598 Jul 14, 2010 (132)
5 1000GENOMES ss238142796 Jul 15, 2010 (132)
6 GMI ss275715250 May 04, 2012 (137)
7 ILLUMINA ss480805859 May 04, 2012 (137)
8 ILLUMINA ss480821566 May 04, 2012 (137)
9 ILLUMINA ss481748442 Sep 08, 2015 (146)
10 ILLUMINA ss485197721 May 04, 2012 (137)
11 CLINSEQ_SNP ss491584566 May 04, 2012 (137)
12 ILLUMINA ss537185708 Sep 08, 2015 (146)
13 SSMP ss647577709 Apr 25, 2013 (138)
14 ILLUMINA ss778893654 Aug 21, 2014 (142)
15 ILLUMINA ss783044885 Aug 21, 2014 (142)
16 ILLUMINA ss784003907 Aug 21, 2014 (142)
17 ILLUMINA ss832302659 Apr 01, 2015 (144)
18 ILLUMINA ss834354806 Aug 21, 2014 (142)
19 EVA-GONL ss974860077 Aug 21, 2014 (142)
20 JMKIDD_LAB ss1067672475 Aug 21, 2014 (142)
21 1000GENOMES ss1289700823 Aug 21, 2014 (142)
22 DDI ss1425713643 Apr 01, 2015 (144)
23 EVA_GENOME_DK ss1573889252 Apr 01, 2015 (144)
24 EVA_DECODE ss1584218211 Apr 01, 2015 (144)
25 EVA_UK10K_ALSPAC ss1599557383 Apr 01, 2015 (144)
26 EVA_UK10K_TWINSUK ss1642551416 Apr 01, 2015 (144)
27 EVA_EXAC ss1685303792 Apr 01, 2015 (144)
28 EVA_MGP ss1710888313 Apr 01, 2015 (144)
29 ILLUMINA ss1751866441 Sep 08, 2015 (146)
30 WEILL_CORNELL_DGM ss1918059975 Feb 12, 2016 (147)
31 ILLUMINA ss1958241654 Feb 12, 2016 (147)
32 JJLAB ss2019543849 Sep 14, 2016 (149)
33 USC_VALOUEV ss2147541895 Dec 20, 2016 (150)
34 HUMAN_LONGEVITY ss2160085854 Dec 20, 2016 (150)
35 TOPMED ss2322243744 Dec 20, 2016 (150)
36 SYSTEMSBIOZJU ss2624288311 Nov 08, 2017 (151)
37 ILLUMINA ss2632477983 Nov 08, 2017 (151)
38 GRF ss2697438467 Nov 08, 2017 (151)
39 ILLUMINA ss2710665736 Nov 08, 2017 (151)
40 GNOMAD ss2731120942 Nov 08, 2017 (151)
41 GNOMAD ss2746215578 Nov 08, 2017 (151)
42 GNOMAD ss2751673235 Nov 08, 2017 (151)
43 AFFY ss2984845348 Nov 08, 2017 (151)
44 SWEGEN ss2986303352 Nov 08, 2017 (151)
45 ILLUMINA ss3021054710 Nov 08, 2017 (151)
46 BIOINF_KMB_FNS_UNIBA ss3023536190 Nov 08, 2017 (151)
47 TOPMED ss3068709698 Nov 08, 2017 (151)
48 CSHL ss3343319538 Nov 08, 2017 (151)
49 ILLUMINA ss3626027038 Oct 11, 2018 (152)
50 ILLUMINA ss3630516353 Oct 11, 2018 (152)
51 ILLUMINA ss3632880903 Oct 11, 2018 (152)
52 ILLUMINA ss3633574737 Oct 11, 2018 (152)
53 ILLUMINA ss3634307025 Oct 11, 2018 (152)
54 ILLUMINA ss3635268861 Oct 11, 2018 (152)
55 ILLUMINA ss3635983155 Oct 11, 2018 (152)
56 ILLUMINA ss3637019227 Oct 11, 2018 (152)
57 ILLUMINA ss3640014389 Oct 11, 2018 (152)
58 OMUKHERJEE_ADBS ss3646221364 Oct 11, 2018 (152)
59 ILLUMINA ss3651378663 Oct 11, 2018 (152)
60 ILLUMINA ss3653618984 Oct 11, 2018 (152)
61 EGCUT_WGS ss3654404165 Jul 12, 2019 (153)
62 EVA_DECODE ss3686172606 Jul 12, 2019 (153)
63 ILLUMINA ss3724996762 Jul 12, 2019 (153)
64 ACPOP ss3726794135 Jul 12, 2019 (153)
65 ILLUMINA ss3744608007 Jul 12, 2019 (153)
66 EVA ss3745834980 Jul 12, 2019 (153)
67 PAGE_CC ss3770785781 Jul 12, 2019 (153)
68 ILLUMINA ss3772109615 Jul 12, 2019 (153)
69 KHV_HUMAN_GENOMES ss3798855325 Jul 12, 2019 (153)
70 EVA ss3825553497 Apr 25, 2020 (154)
71 EVA ss3826025640 Apr 25, 2020 (154)
72 SGDP_PRJ ss3848203092 Apr 25, 2020 (154)
73 KRGDB ss3893088448 Apr 25, 2020 (154)
74 KOGIC ss3943834812 Apr 25, 2020 (154)
75 FSA-LAB ss3983916056 Apr 25, 2021 (155)
76 EVA ss3986099082 Apr 25, 2021 (155)
77 EVA ss4016893519 Apr 25, 2021 (155)
78 TOPMED ss4439373785 Apr 25, 2021 (155)
79 TOMMO_GENOMICS ss5142497490 Apr 25, 2021 (155)
80 EVA ss5236864248 Apr 25, 2021 (155)
81 1000Genomes NC_000001.10 - 11847449 Oct 11, 2018 (152)
82 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 11847449 Oct 11, 2018 (152)
83 Genetic variation in the Estonian population NC_000001.10 - 11847449 Oct 11, 2018 (152)
84 ExAC NC_000001.10 - 11847449 Oct 11, 2018 (152)
85 The Danish reference pan genome NC_000001.10 - 11847449 Apr 25, 2020 (154)
86 gnomAD - Genomes NC_000001.11 - 11787392 Apr 25, 2021 (155)
87 gnomAD - Exomes NC_000001.10 - 11847449 Jul 12, 2019 (153)
88 Genome of the Netherlands Release 5 NC_000001.10 - 11847449 Apr 25, 2020 (154)
89 HapMap NC_000001.11 - 11787392 Apr 25, 2020 (154)
90 KOREAN population from KRGDB NC_000001.10 - 11847449 Apr 25, 2020 (154)
91 Korean Genome Project NC_000001.11 - 11787392 Apr 25, 2020 (154)
92 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 11847449 Apr 25, 2020 (154)
93 Northern Sweden NC_000001.10 - 11847449 Jul 12, 2019 (153)
94 The PAGE Study NC_000001.11 - 11787392 Jul 12, 2019 (153)
95 Qatari NC_000001.10 - 11847449 Apr 25, 2020 (154)
96 SGDP_PRJ NC_000001.10 - 11847449 Apr 25, 2020 (154)
97 Siberian NC_000001.10 - 11847449 Apr 25, 2020 (154)
98 8.3KJPN NC_000001.10 - 11847449 Apr 25, 2021 (155)
99 TopMed NC_000001.11 - 11787392 Apr 25, 2021 (155)
100 UK 10K study - Twins NC_000001.10 - 11847449 Oct 11, 2018 (152)
101 A Vietnamese Genetic Variation Database NC_000001.10 - 11847449 Jul 12, 2019 (153)
102 ALFA NC_000001.11 - 11787392 Apr 25, 2021 (155)
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)
rs386585099 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss275715250, ss480805859, ss491584566, ss1584218211 NC_000001.9:11770035:G:A NC_000001.11:11787391:G:A (self)
377533, 196804, 142413, 4483189, 1390855, 137183, 83820, 265842, 5065, 79000, 101905, 220072, 58249, 466797, 196804, 41135, ss218238390, ss230427598, ss238142796, ss480821566, ss481748442, ss485197721, ss537185708, ss647577709, ss778893654, ss783044885, ss784003907, ss832302659, ss834354806, ss974860077, ss1067672475, ss1289700823, ss1425713643, ss1573889252, ss1599557383, ss1642551416, ss1685303792, ss1710888313, ss1751866441, ss1918059975, ss1958241654, ss2019543849, ss2147541895, ss2322243744, ss2624288311, ss2632477983, ss2697438467, ss2710665736, ss2731120942, ss2746215578, ss2751673235, ss2984845348, ss2986303352, ss3021054710, ss3343319538, ss3626027038, ss3630516353, ss3632880903, ss3633574737, ss3634307025, ss3635268861, ss3635983155, ss3637019227, ss3640014389, ss3646221364, ss3651378663, ss3653618984, ss3654404165, ss3726794135, ss3744608007, ss3745834980, ss3772109615, ss3825553497, ss3826025640, ss3848203092, ss3893088448, ss3983916056, ss3986099082, ss4016893519, ss5142497490 NC_000001.10:11847448:G:A NC_000001.11:11787391:G:A (self)
2627213, 14041, 212813, 7250, 1875286, 2980120, 6549306429, ss2160085854, ss3023536190, ss3068709698, ss3686172606, ss3724996762, ss3770785781, ss3798855325, ss3943834812, ss4439373785, ss5236864248 NC_000001.11:11787391:G:A NC_000001.11:11787391:G:A (self)
ss4923966, ss160633392 NT_021937.19:7852180:G:A NC_000001.11:11787391:G:A (self)
Help

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

9 citations for rs3737967
PMID Title Author Year Journal
20031578 Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. Paré G et al. 2009 Circulation. Cardiovascular genetics
22792358 Association between genetic variants in DNA and histone methylation and telomere length. Kim S et al. 2012 PloS one
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
26046315 Genetic variants in 3'-UTRs of methylenetetrahydrofolate reductase (MTHFR) predict colorectal cancer susceptibility in Koreans. Jeon YJ et al. 2015 Scientific reports
26689687 Associations of Polymorphisms in MTHFR Gene with the Risk of Age-Related Cataract in Chinese Han Population: A Genotype-Phenotype Analysis. Wang XB et al. 2015 PloS one
28253266 Association of OGG1 and MTHFR polymorphisms with age-related cataract: A systematic review and meta-analysis. Wu X et al. 2017 PloS one
28963520 Interplay between 3'-UTR polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and the risk of ischemic stroke. Kim JO et al. 2017 Scientific reports
31637880 MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis. Gholami M et al. 2019 Cancer medicine
33223666 Interaction Between Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms and Environment with Susceptibility to Ischemic Stroke in Chinese Population. Zheng XZ et al. 2020 Annals of Indian Academy of Neurology
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.post676+237644a