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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.

rs12070777

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:236895444 (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
C>A / C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.344365 (91150/264690, TOPMED)
A=0.386910 (87803/226934, GnomAD_exome)
A=0.347616 (48692/140074, GnomAD) (+ 20 more)
A=0.43297 (35927/82978, ExAC)
A=0.38315 (18874/49260, ALFA)
A=0.48269 (13639/28256, 14KJPN)
A=0.48144 (8069/16760, 8.3KJPN)
A=0.34166 (4443/13004, GO-ESP)
A=0.3181 (2037/6404, 1000G_30x)
A=0.3215 (1610/5008, 1000G)
A=0.4449 (1993/4480, Estonian)
A=0.4107 (1583/3854, ALSPAC)
A=0.3956 (1467/3708, TWINSUK)
A=0.4734 (1387/2930, KOREAN)
A=0.4913 (900/1832, Korea1K)
A=0.401 (400/998, GoNL)
A=0.349 (212/608, Vietnamese)
A=0.395 (237/600, NorthernSweden)
A=0.318 (170/534, MGP)
C=0.356 (116/326, SGDP_PRJ)
A=0.241 (52/216, Qatari)
C=0.27 (13/48, Siberian)
C=0.47 (19/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MTR : Synonymous Variant
Publications
0 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 65608 C=0.62500 A=0.37500
European Sub 47322 C=0.59607 A=0.40393
African Sub 8398 C=0.7985 A=0.2015
African Others Sub 306 C=0.843 A=0.157
African American Sub 8092 C=0.7968 A=0.2032
Asian Sub 168 C=0.625 A=0.375
East Asian Sub 112 C=0.607 A=0.393
Other Asian Sub 56 C=0.66 A=0.34
Latin American 1 Sub 500 C=0.696 A=0.304
Latin American 2 Sub 628 C=0.562 A=0.438
South Asian Sub 98 C=0.69 A=0.31
Other Sub 8494 C=0.6143 A=0.3857


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 C=0.655635 A=0.344365
gnomAD - Exomes Global Study-wide 226934 C=0.613090 A=0.386910
gnomAD - Exomes European Sub 120374 C=0.591847 A=0.408153
gnomAD - Exomes Asian Sub 45140 C=0.64214 A=0.35786
gnomAD - Exomes American Sub 32514 C=0.55475 A=0.44525
gnomAD - Exomes African Sub 13858 C=0.80192 A=0.19808
gnomAD - Exomes Ashkenazi Jewish Sub 9424 C=0.6708 A=0.3292
gnomAD - Exomes Other Sub 5624 C=0.6099 A=0.3901
gnomAD - Genomes Global Study-wide 140074 C=0.652384 A=0.347616
gnomAD - Genomes European Sub 75832 C=0.58543 A=0.41457
gnomAD - Genomes African Sub 41994 C=0.79566 A=0.20434
gnomAD - Genomes American Sub 13654 C=0.59711 A=0.40289
gnomAD - Genomes Ashkenazi Jewish Sub 3316 C=0.6755 A=0.3245
gnomAD - Genomes East Asian Sub 3126 C=0.5688 A=0.4312
gnomAD - Genomes Other Sub 2152 C=0.6524 A=0.3476
ExAC Global Study-wide 82978 C=0.56703 A=0.43297
ExAC Europe Sub 48868 C=0.53677 A=0.46323
ExAC Asian Sub 18944 C=0.60800 A=0.39200
ExAC American Sub 7978 C=0.4972 A=0.5028
ExAC African Sub 6592 C=0.7591 A=0.2409
ExAC Other Sub 596 C=0.555 A=0.445
Allele Frequency Aggregator Total Global 49260 C=0.61685 A=0.38315
Allele Frequency Aggregator European Sub 37246 C=0.60039 A=0.39961
Allele Frequency Aggregator Other Sub 7060 C=0.6143 A=0.3857
Allele Frequency Aggregator African Sub 3560 C=0.7902 A=0.2098
Allele Frequency Aggregator Latin American 2 Sub 628 C=0.562 A=0.438
Allele Frequency Aggregator Latin American 1 Sub 500 C=0.696 A=0.304
Allele Frequency Aggregator Asian Sub 168 C=0.625 A=0.375
Allele Frequency Aggregator South Asian Sub 98 C=0.69 A=0.31
14KJPN JAPANESE Study-wide 28256 C=0.51731 A=0.48269
8.3KJPN JAPANESE Study-wide 16760 C=0.51856 A=0.48144
GO Exome Sequencing Project Global Study-wide 13004 C=0.65834 A=0.34166
GO Exome Sequencing Project European American Sub 8598 C=0.5894 A=0.4106
GO Exome Sequencing Project African American Sub 4406 C=0.7928 A=0.2072
1000Genomes_30x Global Study-wide 6404 C=0.6819 A=0.3181
1000Genomes_30x African Sub 1786 C=0.8455 A=0.1545
1000Genomes_30x Europe Sub 1266 C=0.6169 A=0.3831
1000Genomes_30x South Asian Sub 1202 C=0.7030 A=0.2970
1000Genomes_30x East Asian Sub 1170 C=0.5778 A=0.4222
1000Genomes_30x American Sub 980 C=0.566 A=0.434
1000Genomes Global Study-wide 5008 C=0.6785 A=0.3215
1000Genomes African Sub 1322 C=0.8457 A=0.1543
1000Genomes East Asian Sub 1008 C=0.5804 A=0.4196
1000Genomes Europe Sub 1006 C=0.6143 A=0.3857
1000Genomes South Asian Sub 978 C=0.702 A=0.298
1000Genomes American Sub 694 C=0.562 A=0.438
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5551 A=0.4449
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5893 A=0.4107
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.6044 A=0.3956
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.5266 A=0.4734, G=0.0000
Korean Genome Project KOREAN Study-wide 1832 C=0.5087 A=0.4913
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.599 A=0.401
A Vietnamese Genetic Variation Database Global Study-wide 608 C=0.651 A=0.349
Northern Sweden ACPOP Study-wide 600 C=0.605 A=0.395
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.682 A=0.318
SGDP_PRJ Global Study-wide 326 C=0.356 A=0.644
Qatari Global Study-wide 216 C=0.759 A=0.241
Siberian Global Study-wide 48 C=0.27 A=0.73
The Danish reference pan genome Danish Study-wide 40 C=0.47 A=0.53
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.236895444C>A
GRCh38.p14 chr 1 NC_000001.11:g.236895444C>G
GRCh37.p13 chr 1 NC_000001.10:g.237058744C>A
GRCh37.p13 chr 1 NC_000001.10:g.237058744C>G
MTR RefSeqGene NG_008959.1:g.105164C>A
MTR RefSeqGene NG_008959.1:g.105164C>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.3339C>A R [CGC] > R [CGA] Coding Sequence Variant
methionine synthase isoform 2 NP_001278868.1:p.Arg1113= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant 2 NM_001291939.1:c.3339C>G R [CGC] > R [CGG] Coding Sequence Variant
methionine synthase isoform 2 NP_001278868.1:p.Arg1113= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant 3 NM_001291940.2:c.2271C>A R [CGC] > R [CGA] Coding Sequence Variant
methionine synthase isoform 3 NP_001278869.1:p.Arg757= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant 3 NM_001291940.2:c.2271C>G R [CGC] > R [CGG] Coding Sequence Variant
methionine synthase isoform 3 NP_001278869.1:p.Arg757= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant 1 NM_000254.3:c.3492C>A R [CGC] > R [CGA] Coding Sequence Variant
methionine synthase isoform 1 NP_000245.2:p.Arg1164= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant 1 NM_000254.3:c.3492C>G R [CGC] > R [CGG] Coding Sequence Variant
methionine synthase isoform 1 NP_000245.2:p.Arg1164= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X1 XM_011544194.4:c.3660C>A R [CGC] > R [CGA] Coding Sequence Variant
methionine synthase isoform X1 XP_011542496.1:p.Arg1220= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X1 XM_011544194.4:c.3660C>G R [CGC] > R [CGG] Coding Sequence Variant
methionine synthase isoform X1 XP_011542496.1:p.Arg1220= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X2 XM_017001329.3:c.3507C>A R [CGC] > R [CGA] Coding Sequence Variant
methionine synthase isoform X2 XP_016856818.1:p.Arg1169= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X2 XM_017001329.3:c.3507C>G R [CGC] > R [CGG] Coding Sequence Variant
methionine synthase isoform X2 XP_016856818.1:p.Arg1169= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X3 XM_005273141.6:c.3489C>A R [CGC] > R [CGA] Coding Sequence Variant
methionine synthase isoform X3 XP_005273198.1:p.Arg1163= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X3 XM_005273141.6:c.3489C>G R [CGC] > R [CGG] Coding Sequence Variant
methionine synthase isoform X3 XP_005273198.1:p.Arg1163= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X4 XM_017001330.3:c.3471C>A R [CGC] > R [CGA] Coding Sequence Variant
methionine synthase isoform X4 XP_016856819.1:p.Arg1157= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X4 XM_017001330.3:c.3471C>G R [CGC] > R [CGG] Coding Sequence Variant
methionine synthase isoform X4 XP_016856819.1:p.Arg1157= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X5 XM_047421182.1:c.3336C>A R [CGC] > R [CGA] Coding Sequence Variant
methionine synthase isoform X5 XP_047277138.1:p.Arg1112= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X5 XM_047421182.1:c.3336C>G R [CGC] > R [CGG] Coding Sequence Variant
methionine synthase isoform X5 XP_047277138.1:p.Arg1112= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X6 XM_047421183.1:c.3318C>A R [CGC] > R [CGA] Coding Sequence Variant
methionine synthase isoform X6 XP_047277139.1:p.Arg1106= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X6 XM_047421183.1:c.3318C>G R [CGC] > R [CGG] Coding Sequence Variant
methionine synthase isoform X6 XP_047277139.1:p.Arg1106= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X7 XM_047421184.1:c.3303C>A R [CGC] > R [CGA] Coding Sequence Variant
methionine synthase isoform X7 XP_047277140.1:p.Arg1101= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X7 XM_047421184.1:c.3303C>G R [CGC] > R [CGG] Coding Sequence Variant
methionine synthase isoform X7 XP_047277140.1:p.Arg1101= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X7 XM_047421185.1:c.3300C>A R [CGC] > R [CGA] Coding Sequence Variant
methionine synthase isoform X7 XP_047277141.1:p.Arg1100= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X7 XM_047421185.1:c.3300C>G R [CGC] > R [CGG] Coding Sequence Variant
methionine synthase isoform X7 XP_047277141.1:p.Arg1100= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X8 XM_047421186.1:c.3150C>A R [CGC] > R [CGA] Coding Sequence Variant
methionine synthase isoform X8 XP_047277142.1:p.Arg1050= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X8 XM_047421186.1:c.3150C>G R [CGC] > R [CGG] Coding Sequence Variant
methionine synthase isoform X8 XP_047277142.1:p.Arg1050= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X9 XM_047421187.1:c.2556C>A R [CGC] > R [CGA] Coding Sequence Variant
methionine synthase isoform X9 XP_047277143.1:p.Arg852= R (Arg) > R (Arg) Synonymous Variant
MTR transcript variant X9 XM_047421187.1:c.2556C>G R [CGC] > R [CGG] Coding Sequence Variant
methionine synthase isoform X9 XP_047277143.1:p.Arg852= R (Arg) > R (Arg) Synonymous 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: A (allele ID: 141986 )
ClinVar Accession Disease Names Clinical Significance
RCV000126862.5 not specified Benign
RCV000316970.3 Disorders of Intracellular Cobalamin Metabolism Benign
RCV001517612.6 Methylcobalamin deficiency type cblG 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 C= A G
GRCh38.p14 chr 1 NC_000001.11:g.236895444= NC_000001.11:g.236895444C>A NC_000001.11:g.236895444C>G
GRCh37.p13 chr 1 NC_000001.10:g.237058744= NC_000001.10:g.237058744C>A NC_000001.10:g.237058744C>G
MTR RefSeqGene NG_008959.1:g.105164= NG_008959.1:g.105164C>A NG_008959.1:g.105164C>G
MTR transcript variant 1 NM_000254.3:c.3492= NM_000254.3:c.3492C>A NM_000254.3:c.3492C>G
MTR transcript variant 1 NM_000254.2:c.3492= NM_000254.2:c.3492C>A NM_000254.2:c.3492C>G
MTR transcript variant 3 NM_001291940.2:c.2271= NM_001291940.2:c.2271C>A NM_001291940.2:c.2271C>G
MTR transcript variant 3 NM_001291940.1:c.2271= NM_001291940.1:c.2271C>A NM_001291940.1:c.2271C>G
MTR transcript variant 2 NM_001291939.1:c.3339= NM_001291939.1:c.3339C>A NM_001291939.1:c.3339C>G
MTR transcript variant X3 XM_005273141.6:c.3489= XM_005273141.6:c.3489C>A XM_005273141.6:c.3489C>G
MTR transcript variant X3 XM_005273141.5:c.3489= XM_005273141.5:c.3489C>A XM_005273141.5:c.3489C>G
MTR transcript variant X3 XM_005273141.4:c.3489= XM_005273141.4:c.3489C>A XM_005273141.4:c.3489C>G
MTR transcript variant X1 XM_005273141.3:c.3489= XM_005273141.3:c.3489C>A XM_005273141.3:c.3489C>G
MTR transcript variant X2 XM_005273141.2:c.3489= XM_005273141.2:c.3489C>A XM_005273141.2:c.3489C>G
MTR transcript variant X2 XM_005273141.1:c.3489= XM_005273141.1:c.3489C>A XM_005273141.1:c.3489C>G
MTR transcript variant X1 XM_011544194.4:c.3660= XM_011544194.4:c.3660C>A XM_011544194.4:c.3660C>G
MTR transcript variant X1 XM_011544194.3:c.3660= XM_011544194.3:c.3660C>A XM_011544194.3:c.3660C>G
MTR transcript variant X1 XM_011544194.2:c.3660= XM_011544194.2:c.3660C>A XM_011544194.2:c.3660C>G
MTR transcript variant X5 XM_011544194.1:c.3660= XM_011544194.1:c.3660C>A XM_011544194.1:c.3660C>G
MTR transcript variant X2 XM_017001329.3:c.3507= XM_017001329.3:c.3507C>A XM_017001329.3:c.3507C>G
MTR transcript variant X2 XM_017001329.2:c.3507= XM_017001329.2:c.3507C>A XM_017001329.2:c.3507C>G
MTR transcript variant X2 XM_017001329.1:c.3507= XM_017001329.1:c.3507C>A XM_017001329.1:c.3507C>G
MTR transcript variant X4 XM_017001330.3:c.3471= XM_017001330.3:c.3471C>A XM_017001330.3:c.3471C>G
MTR transcript variant X4 XM_017001330.2:c.3471= XM_017001330.2:c.3471C>A XM_017001330.2:c.3471C>G
MTR transcript variant X4 XM_017001330.1:c.3471= XM_017001330.1:c.3471C>A XM_017001330.1:c.3471C>G
MTR transcript variant X5 XM_047421182.1:c.3336= XM_047421182.1:c.3336C>A XM_047421182.1:c.3336C>G
MTR transcript variant X7 XM_047421184.1:c.3303= XM_047421184.1:c.3303C>A XM_047421184.1:c.3303C>G
MTR transcript variant X7 XM_047421185.1:c.3300= XM_047421185.1:c.3300C>A XM_047421185.1:c.3300C>G
MTR transcript variant 4 NM_001410942.1:c.3303= NM_001410942.1:c.3303C>A NM_001410942.1:c.3303C>G
MTR transcript variant X8 XM_047421186.1:c.3150= XM_047421186.1:c.3150C>A XM_047421186.1:c.3150C>G
MTR transcript variant X6 XM_047421183.1:c.3318= XM_047421183.1:c.3318C>A XM_047421183.1:c.3318C>G
MTR transcript variant X9 XM_047421187.1:c.2556= XM_047421187.1:c.2556C>A XM_047421187.1:c.2556C>G
methionine synthase isoform 1 NP_000245.2:p.Arg1164= NP_000245.2:p.Arg1164= NP_000245.2:p.Arg1164=
methionine synthase isoform 3 NP_001278869.1:p.Arg757= NP_001278869.1:p.Arg757= NP_001278869.1:p.Arg757=
methionine synthase isoform 2 NP_001278868.1:p.Arg1113= NP_001278868.1:p.Arg1113= NP_001278868.1:p.Arg1113=
methionine synthase isoform X3 XP_005273198.1:p.Arg1163= XP_005273198.1:p.Arg1163= XP_005273198.1:p.Arg1163=
methionine synthase isoform X1 XP_011542496.1:p.Arg1220= XP_011542496.1:p.Arg1220= XP_011542496.1:p.Arg1220=
methionine synthase isoform X2 XP_016856818.1:p.Arg1169= XP_016856818.1:p.Arg1169= XP_016856818.1:p.Arg1169=
methionine synthase isoform X4 XP_016856819.1:p.Arg1157= XP_016856819.1:p.Arg1157= XP_016856819.1:p.Arg1157=
methionine synthase isoform X5 XP_047277138.1:p.Arg1112= XP_047277138.1:p.Arg1112= XP_047277138.1:p.Arg1112=
methionine synthase isoform X7 XP_047277140.1:p.Arg1101= XP_047277140.1:p.Arg1101= XP_047277140.1:p.Arg1101=
methionine synthase isoform X7 XP_047277141.1:p.Arg1100= XP_047277141.1:p.Arg1100= XP_047277141.1:p.Arg1100=
methionine synthase isoform X8 XP_047277142.1:p.Arg1050= XP_047277142.1:p.Arg1050= XP_047277142.1:p.Arg1050=
methionine synthase isoform X6 XP_047277139.1:p.Arg1106= XP_047277139.1:p.Arg1106= XP_047277139.1:p.Arg1106=
methionine synthase isoform X9 XP_047277143.1:p.Arg852= XP_047277143.1:p.Arg852= XP_047277143.1:p.Arg852=
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#.

98 SubSNP, 23 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18161398 Feb 28, 2004 (120)
2 SI_EXO ss52069873 Oct 16, 2006 (127)
3 CORNELL ss86251944 Mar 23, 2008 (129)
4 BCMHGSC_JDW ss88019433 Mar 23, 2008 (129)
5 ILLUMINA-UK ss119258145 Feb 15, 2009 (130)
6 ENSEMBL ss138178555 Dec 01, 2009 (131)
7 SEATTLESEQ ss159700998 Dec 01, 2009 (131)
8 ILLUMINA ss169016335 Jul 04, 2010 (132)
9 BUSHMAN ss199794088 Jul 04, 2010 (132)
10 1000GENOMES ss210772505 Jul 14, 2010 (132)
11 1000GENOMES ss218959667 Jul 14, 2010 (132)
12 1000GENOMES ss230960765 Jul 14, 2010 (132)
13 1000GENOMES ss238563584 Jul 15, 2010 (132)
14 BL ss253906155 May 09, 2011 (134)
15 GMI ss276275567 May 04, 2012 (137)
16 GMI ss284253851 Apr 25, 2013 (138)
17 NHLBI-ESP ss342038713 May 09, 2011 (134)
18 1000GENOMES ss489798973 May 04, 2012 (137)
19 EXOME_CHIP ss491313139 May 04, 2012 (137)
20 CLINSEQ_SNP ss491618327 May 04, 2012 (137)
21 ILLUMINA ss532740422 Sep 08, 2015 (146)
22 TISHKOFF ss555231453 Apr 25, 2013 (138)
23 SSMP ss648805257 Apr 25, 2013 (138)
24 JMKIDD_LAB ss974440552 Aug 21, 2014 (142)
25 EVA-GONL ss976296015 Aug 21, 2014 (142)
26 JMKIDD_LAB ss1067433793 Aug 21, 2014 (142)
27 JMKIDD_LAB ss1068716061 Aug 21, 2014 (142)
28 1000GENOMES ss1295214488 Aug 21, 2014 (142)
29 DDI ss1426155777 Apr 01, 2015 (144)
30 CLINVAR ss1457618434 Nov 23, 2014 (142)
31 EVA_GENOME_DK ss1574776755 Apr 01, 2015 (144)
32 EVA_DECODE ss1585697923 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1602442594 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1645436627 Apr 01, 2015 (144)
35 EVA_EXAC ss1686130723 Apr 01, 2015 (144)
36 EVA_MGP ss1710949226 Apr 01, 2015 (144)
37 WEILL_CORNELL_DGM ss1919517474 Feb 12, 2016 (147)
38 GENOMED ss1967009037 Jul 19, 2016 (147)
39 JJLAB ss2020285352 Sep 14, 2016 (149)
40 USC_VALOUEV ss2148322519 Nov 08, 2017 (151)
41 HUMAN_LONGEVITY ss2171248076 Dec 20, 2016 (150)
42 SYSTEMSBIOZJU ss2624655749 Nov 08, 2017 (151)
43 GRF ss2698325048 Nov 08, 2017 (151)
44 GNOMAD ss2732391942 Nov 08, 2017 (151)
45 GNOMAD ss2746597749 Nov 08, 2017 (151)
46 GNOMAD ss2767808667 Nov 08, 2017 (151)
47 SWEGEN ss2988685328 Nov 08, 2017 (151)
48 EVA_SAMSUNG_MC ss3023057739 Nov 08, 2017 (151)
49 BIOINF_KMB_FNS_UNIBA ss3023904272 Nov 08, 2017 (151)
50 CSHL ss3343979984 Nov 08, 2017 (151)
51 ILLUMINA ss3626342543 Oct 11, 2018 (152)
52 ILLUMINA ss3637822790 Oct 11, 2018 (152)
53 OMUKHERJEE_ADBS ss3646255922 Oct 11, 2018 (152)
54 EGCUT_WGS ss3656644206 Jul 12, 2019 (153)
55 EVA_DECODE ss3688911367 Jul 12, 2019 (153)
56 ACPOP ss3727988201 Jul 12, 2019 (153)
57 EVA ss3747514534 Jul 12, 2019 (153)
58 PACBIO ss3783727248 Jul 12, 2019 (153)
59 PACBIO ss3789333166 Jul 12, 2019 (153)
60 PACBIO ss3794205591 Jul 12, 2019 (153)
61 KHV_HUMAN_GENOMES ss3800516878 Jul 12, 2019 (153)
62 EVA ss3823732028 Apr 25, 2020 (154)
63 EVA ss3825519076 Apr 25, 2020 (154)
64 EVA ss3825536020 Apr 25, 2020 (154)
65 EVA ss3825591933 Apr 25, 2020 (154)
66 EVA ss3826719910 Apr 25, 2020 (154)
67 EVA ss3836762481 Apr 25, 2020 (154)
68 EVA ss3842175241 Apr 25, 2020 (154)
69 SGDP_PRJ ss3851194475 Apr 25, 2020 (154)
70 KRGDB ss3896551251 Apr 25, 2020 (154)
71 KOGIC ss3946786833 Apr 25, 2020 (154)
72 FSA-LAB ss3983968567 Apr 25, 2021 (155)
73 FSA-LAB ss3983968568 Apr 25, 2021 (155)
74 EVA ss3986016198 Apr 25, 2021 (155)
75 EVA ss3986165589 Apr 25, 2021 (155)
76 TOPMED ss4488471959 Apr 25, 2021 (155)
77 TOMMO_GENOMICS ss5149081113 Apr 25, 2021 (155)
78 EVA ss5236880526 Apr 25, 2021 (155)
79 EVA ss5237167242 Apr 25, 2021 (155)
80 EVA ss5237634806 Oct 17, 2022 (156)
81 1000G_HIGH_COVERAGE ss5246291025 Oct 17, 2022 (156)
82 TRAN_CS_UWATERLOO ss5314399903 Oct 17, 2022 (156)
83 EVA ss5325690498 Oct 17, 2022 (156)
84 HUGCELL_USP ss5446678976 Oct 17, 2022 (156)
85 EVA ss5506239078 Oct 17, 2022 (156)
86 1000G_HIGH_COVERAGE ss5520631085 Oct 17, 2022 (156)
87 EVA ss5623919143 Oct 17, 2022 (156)
88 EVA ss5624004925 Oct 17, 2022 (156)
89 SANFORD_IMAGENETICS ss5627728343 Oct 17, 2022 (156)
90 TOMMO_GENOMICS ss5677031059 Oct 17, 2022 (156)
91 EVA ss5800047959 Oct 17, 2022 (156)
92 YY_MCH ss5801766753 Oct 17, 2022 (156)
93 EVA ss5833463634 Oct 17, 2022 (156)
94 EVA ss5848289836 Oct 17, 2022 (156)
95 EVA ss5849350582 Oct 17, 2022 (156)
96 EVA ss5912543739 Oct 17, 2022 (156)
97 EVA ss5939579547 Oct 17, 2022 (156)
98 EVA ss5981202023 Oct 17, 2022 (156)
99 1000Genomes NC_000001.10 - 237058744 Oct 11, 2018 (152)
100 1000Genomes_30x NC_000001.11 - 236895444 Oct 17, 2022 (156)
101 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 237058744 Oct 11, 2018 (152)
102 Genetic variation in the Estonian population NC_000001.10 - 237058744 Oct 11, 2018 (152)
103 ExAC NC_000001.10 - 237058744 Oct 11, 2018 (152)
104 The Danish reference pan genome NC_000001.10 - 237058744 Apr 25, 2020 (154)
105 gnomAD - Genomes NC_000001.11 - 236895444 Apr 25, 2021 (155)
106 gnomAD - Exomes NC_000001.10 - 237058744 Jul 12, 2019 (153)
107 GO Exome Sequencing Project NC_000001.10 - 237058744 Oct 11, 2018 (152)
108 Genome of the Netherlands Release 5 NC_000001.10 - 237058744 Apr 25, 2020 (154)
109 KOREAN population from KRGDB NC_000001.10 - 237058744 Apr 25, 2020 (154)
110 Korean Genome Project NC_000001.11 - 236895444 Apr 25, 2020 (154)
111 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 237058744 Apr 25, 2020 (154)
112 Northern Sweden NC_000001.10 - 237058744 Jul 12, 2019 (153)
113 Qatari NC_000001.10 - 237058744 Apr 25, 2020 (154)
114 SGDP_PRJ NC_000001.10 - 237058744 Apr 25, 2020 (154)
115 Siberian NC_000001.10 - 237058744 Apr 25, 2020 (154)
116 8.3KJPN NC_000001.10 - 237058744 Apr 25, 2021 (155)
117 14KJPN NC_000001.11 - 236895444 Oct 17, 2022 (156)
118 TopMed NC_000001.11 - 236895444 Apr 25, 2021 (155)
119 UK 10K study - Twins NC_000001.10 - 237058744 Oct 11, 2018 (152)
120 A Vietnamese Genetic Variation Database NC_000001.10 - 237058744 Jul 12, 2019 (153)
121 ALFA NC_000001.11 - 236895444 Apr 25, 2021 (155)
122 ClinVar RCV000126862.5 Oct 17, 2022 (156)
123 ClinVar RCV000316970.3 Oct 17, 2022 (156)
124 ClinVar RCV001517612.6 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss88019433, ss119258145, ss199794088, ss210772505, ss253906155, ss276275567, ss284253851, ss491618327, ss1585697923 NC_000001.9:235125366:C:A NC_000001.11:236895443:C:A (self)
6089874, 3372078, 2382454, 5373036, 1945835, 1430822, 190530, 1475038, 3728645, 65978, 1273066, 1559404, 3211455, 838873, 7050420, 3372078, 733903, ss218959667, ss230960765, ss238563584, ss342038713, ss489798973, ss491313139, ss532740422, ss555231453, ss648805257, ss974440552, ss976296015, ss1067433793, ss1068716061, ss1295214488, ss1426155777, ss1574776755, ss1602442594, ss1645436627, ss1686130723, ss1710949226, ss1919517474, ss1967009037, ss2020285352, ss2148322519, ss2624655749, ss2698325048, ss2732391942, ss2746597749, ss2767808667, ss2988685328, ss3023057739, ss3343979984, ss3626342543, ss3637822790, ss3646255922, ss3656644206, ss3727988201, ss3747514534, ss3783727248, ss3789333166, ss3794205591, ss3823732028, ss3825519076, ss3825536020, ss3825591933, ss3826719910, ss3836762481, ss3851194475, ss3896551251, ss3983968567, ss3983968568, ss3986016198, ss3986165589, ss5149081113, ss5325690498, ss5506239078, ss5623919143, ss5624004925, ss5627728343, ss5800047959, ss5833463634, ss5848289836, ss5939579547, ss5981202023 NC_000001.10:237058743:C:A NC_000001.11:236895443:C:A (self)
RCV000126862.5, RCV000316970.3, RCV001517612.6, 8157020, 43628199, 3164834, 10868163, 52078294, 6107088692, ss1457618434, ss2171248076, ss3023904272, ss3688911367, ss3800516878, ss3842175241, ss3946786833, ss4488471959, ss5236880526, ss5237167242, ss5237634806, ss5246291025, ss5314399903, ss5446678976, ss5520631085, ss5677031059, ss5801766753, ss5849350582, ss5912543739 NC_000001.11:236895443:C:A NC_000001.11:236895443:C:A (self)
ss18161398 NT_004836.15:1816532:C:A NC_000001.11:236895443:C:A (self)
ss52069873 NT_004836.16:1816532:C:A NC_000001.11:236895443:C:A (self)
ss86251944, ss138178555, ss159700998, ss169016335 NT_167186.1:30576522:C:A NC_000001.11:236895443:C:A (self)
3728645, ss3896551251 NC_000001.10:237058743:C:G NC_000001.11:236895443:C:G (self)
Help

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

No publications for rs12070777

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