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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1047251

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrX:151924181 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.449243 (118910/264690, TOPMED)
G=0.494268 (90492/183083, GnomAD_exome)
G=0.48104 (41971/87250, ExAC) (+ 14 more)
G=0.45111 (15234/33770, ALFA)
G=0.43234 (9608/22223, 14KJPN)
G=0.42918 (5512/12843, 8.3KJPN)
G=0.43160 (4559/10563, GO-ESP)
G=0.4639 (2229/4805, 1000G_30x)
G=0.4652 (1756/3775, 1000G)
G=0.4620 (1713/3708, TWINSUK)
G=0.4627 (1354/2926, KOREAN)
G=0.4451 (1286/2889, ALSPAC)
G=0.429 (229/534, MGP)
G=0.124 (44/354, SGDP_PRJ)
G=0.452 (66/146, Vietnamese)
G=0.407 (44/108, Qatari)
G=0.27 (7/26, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MAGEA4 : Missense 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 33770 G=0.45111 A=0.54889
European Sub 26214 G=0.45407 A=0.54593
African Sub 3506 G=0.3905 A=0.6095
African Others Sub 122 G=0.393 A=0.607
African American Sub 3384 G=0.3904 A=0.6096
Asian Sub 168 G=0.399 A=0.601
East Asian Sub 112 G=0.438 A=0.562
Other Asian Sub 56 G=0.32 A=0.68
Latin American 1 Sub 146 G=0.493 A=0.507
Latin American 2 Sub 610 G=0.634 A=0.366
South Asian Sub 98 G=0.45 A=0.55
Other Sub 3028 G=0.4597 A=0.5403


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=0.449243 A=0.550757
gnomAD - Exomes Global Study-wide 183083 G=0.494268 A=0.505732
gnomAD - Exomes European Sub 97709 G=0.46136 A=0.53864
gnomAD - Exomes Asian Sub 32839 G=0.48205 A=0.51795
gnomAD - Exomes American Sub 27413 G=0.69201 A=0.30799
gnomAD - Exomes African Sub 13156 G=0.38477 A=0.61523
gnomAD - Exomes Ashkenazi Jewish Sub 7447 G=0.4502 A=0.5498
gnomAD - Exomes Other Sub 4519 G=0.4864 A=0.5136
ExAC Global Study-wide 87250 G=0.48104 A=0.51896
ExAC Europe Sub 52396 G=0.45813 A=0.54187
ExAC Asian Sub 16412 G=0.47679 A=0.52321
ExAC American Sub 9309 G=0.7099 A=0.2901
ExAC African Sub 8507 G=0.3810 A=0.6190
ExAC Other Sub 626 G=0.468 A=0.532
Allele Frequency Aggregator Total Global 33770 G=0.45111 A=0.54889
Allele Frequency Aggregator European Sub 26214 G=0.45407 A=0.54593
Allele Frequency Aggregator African Sub 3506 G=0.3905 A=0.6095
Allele Frequency Aggregator Other Sub 3028 G=0.4597 A=0.5403
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.634 A=0.366
Allele Frequency Aggregator Asian Sub 168 G=0.399 A=0.601
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.493 A=0.507
Allele Frequency Aggregator South Asian Sub 98 G=0.45 A=0.55
14KJPN JAPANESE Study-wide 22223 G=0.43234 A=0.56766
8.3KJPN JAPANESE Study-wide 12843 G=0.42918 A=0.57082
GO Exome Sequencing Project Global Study-wide 10563 G=0.43160 A=0.56840
GO Exome Sequencing Project European American Sub 6728 G=0.4570 A=0.5430
GO Exome Sequencing Project African American Sub 3835 G=0.3870 A=0.6130
1000Genomes_30x Global Study-wide 4805 G=0.4639 A=0.5361
1000Genomes_30x African Sub 1328 G=0.3652 A=0.6348
1000Genomes_30x Europe Sub 961 G=0.471 A=0.529
1000Genomes_30x South Asian Sub 883 G=0.554 A=0.446
1000Genomes_30x East Asian Sub 878 G=0.397 A=0.603
1000Genomes_30x American Sub 755 G=0.600 A=0.400
1000Genomes Global Study-wide 3775 G=0.4652 A=0.5348
1000Genomes African Sub 1003 G=0.3709 A=0.6291
1000Genomes Europe Sub 766 G=0.478 A=0.522
1000Genomes East Asian Sub 764 G=0.406 A=0.594
1000Genomes South Asian Sub 718 G=0.539 A=0.461
1000Genomes American Sub 524 G=0.613 A=0.387
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4620 A=0.5380
KOREAN population from KRGDB KOREAN Study-wide 2926 G=0.4627 A=0.5373, C=0.0000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 2889 G=0.4451 A=0.5549
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.429 A=0.571
SGDP_PRJ Global Study-wide 354 G=0.124 A=0.876
A Vietnamese Genetic Variation Database Global Study-wide 146 G=0.452 A=0.548
Qatari Global Study-wide 108 G=0.407 A=0.593
Siberian Global Study-wide 26 G=0.27 A=0.73
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 X NC_000023.11:g.151924181G>A
GRCh38.p14 chr X NC_000023.11:g.151924181G>C
GRCh37.p13 chr X NC_000023.10:g.151092653G>A
GRCh37.p13 chr X NC_000023.10:g.151092653G>C
MAGEA4 RefSeqGene NG_013245.1:g.16293G>A
MAGEA4 RefSeqGene NG_013245.1:g.16293G>C
Gene: MAGEA4, MAGE family member A4 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MAGEA4 transcript variant 2 NM_002362.4:c.517G>A A [GCC] > T [ACC] Coding Sequence Variant
melanoma-associated antigen 4 NP_002353.3:p.Ala173Thr A (Ala) > T (Thr) Missense Variant
MAGEA4 transcript variant 2 NM_002362.4:c.517G>C A [GCC] > P [CCC] Coding Sequence Variant
melanoma-associated antigen 4 NP_002353.3:p.Ala173Pro A (Ala) > P (Pro) Missense Variant
MAGEA4 transcript variant 1 NM_001011548.1:c.517G>A A [GCC] > T [ACC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001011548.1:p.Ala173Thr A (Ala) > T (Thr) Missense Variant
MAGEA4 transcript variant 1 NM_001011548.1:c.517G>C A [GCC] > P [CCC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001011548.1:p.Ala173Pro A (Ala) > P (Pro) Missense Variant
MAGEA4 transcript variant 3 NM_001011549.1:c.517G>A A [GCC] > T [ACC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001011549.1:p.Ala173Thr A (Ala) > T (Thr) Missense Variant
MAGEA4 transcript variant 3 NM_001011549.1:c.517G>C A [GCC] > P [CCC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001011549.1:p.Ala173Pro A (Ala) > P (Pro) Missense Variant
MAGEA4 transcript variant 4 NM_001011550.1:c.517G>A A [GCC] > T [ACC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001011550.1:p.Ala173Thr A (Ala) > T (Thr) Missense Variant
MAGEA4 transcript variant 4 NM_001011550.1:c.517G>C A [GCC] > P [CCC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001011550.1:p.Ala173Pro A (Ala) > P (Pro) Missense Variant
MAGEA4 transcript variant 12 NM_001386203.1:c.517G>A A [GCC] > T [ACC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001373132.1:p.Ala173Thr A (Ala) > T (Thr) Missense Variant
MAGEA4 transcript variant 12 NM_001386203.1:c.517G>C A [GCC] > P [CCC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001373132.1:p.Ala173Pro A (Ala) > P (Pro) Missense Variant
MAGEA4 transcript variant 11 NM_001386202.1:c.517G>A A [GCC] > T [ACC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001373131.1:p.Ala173Thr A (Ala) > T (Thr) Missense Variant
MAGEA4 transcript variant 11 NM_001386202.1:c.517G>C A [GCC] > P [CCC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001373131.1:p.Ala173Pro A (Ala) > P (Pro) Missense Variant
MAGEA4 transcript variant 8 NM_001386199.1:c.517G>A A [GCC] > T [ACC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001373128.1:p.Ala173Thr A (Ala) > T (Thr) Missense Variant
MAGEA4 transcript variant 8 NM_001386199.1:c.517G>C A [GCC] > P [CCC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001373128.1:p.Ala173Pro A (Ala) > P (Pro) Missense Variant
MAGEA4 transcript variant 9 NM_001386200.1:c.517G>A A [GCC] > T [ACC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001373129.1:p.Ala173Thr A (Ala) > T (Thr) Missense Variant
MAGEA4 transcript variant 9 NM_001386200.1:c.517G>C A [GCC] > P [CCC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001373129.1:p.Ala173Pro A (Ala) > P (Pro) Missense Variant
MAGEA4 transcript variant 6 NM_001386197.1:c.517G>A A [GCC] > T [ACC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001373126.1:p.Ala173Thr A (Ala) > T (Thr) Missense Variant
MAGEA4 transcript variant 6 NM_001386197.1:c.517G>C A [GCC] > P [CCC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001373126.1:p.Ala173Pro A (Ala) > P (Pro) Missense Variant
MAGEA4 transcript variant 7 NM_001386198.1:c.517G>A A [GCC] > T [ACC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001373127.1:p.Ala173Thr A (Ala) > T (Thr) Missense Variant
MAGEA4 transcript variant 7 NM_001386198.1:c.517G>C A [GCC] > P [CCC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001373127.1:p.Ala173Pro A (Ala) > P (Pro) Missense Variant
MAGEA4 transcript variant 5 NM_001386196.1:c.517G>A A [GCC] > T [ACC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001373125.1:p.Ala173Thr A (Ala) > T (Thr) Missense Variant
MAGEA4 transcript variant 5 NM_001386196.1:c.517G>C A [GCC] > P [CCC] Coding Sequence Variant
melanoma-associated antigen 4 NP_001373125.1:p.Ala173Pro A (Ala) > P (Pro) 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 C
GRCh38.p14 chr X NC_000023.11:g.151924181= NC_000023.11:g.151924181G>A NC_000023.11:g.151924181G>C
GRCh37.p13 chr X NC_000023.10:g.151092653= NC_000023.10:g.151092653G>A NC_000023.10:g.151092653G>C
MAGEA4 RefSeqGene NG_013245.1:g.16293= NG_013245.1:g.16293G>A NG_013245.1:g.16293G>C
MAGEA4 transcript variant 2 NM_002362.4:c.517= NM_002362.4:c.517G>A NM_002362.4:c.517G>C
MAGEA4 transcript variant 7 NM_001386198.1:c.517= NM_001386198.1:c.517G>A NM_001386198.1:c.517G>C
MAGEA4 transcript variant 11 NM_001386202.1:c.517= NM_001386202.1:c.517G>A NM_001386202.1:c.517G>C
MAGEA4 transcript variant 8 NM_001386199.1:c.517= NM_001386199.1:c.517G>A NM_001386199.1:c.517G>C
MAGEA4 transcript variant 12 NM_001386203.1:c.517= NM_001386203.1:c.517G>A NM_001386203.1:c.517G>C
MAGEA4 transcript variant 9 NM_001386200.1:c.517= NM_001386200.1:c.517G>A NM_001386200.1:c.517G>C
MAGEA4 transcript variant 6 NM_001386197.1:c.517= NM_001386197.1:c.517G>A NM_001386197.1:c.517G>C
MAGEA4 transcript variant 1 NM_001011548.1:c.517= NM_001011548.1:c.517G>A NM_001011548.1:c.517G>C
MAGEA4 transcript variant 3 NM_001011549.1:c.517= NM_001011549.1:c.517G>A NM_001011549.1:c.517G>C
MAGEA4 transcript variant 5 NM_001386196.1:c.517= NM_001386196.1:c.517G>A NM_001386196.1:c.517G>C
MAGEA4 transcript variant 4 NM_001011550.1:c.517= NM_001011550.1:c.517G>A NM_001011550.1:c.517G>C
MAGEA4 transcript variant 10 NM_001386201.1:c.517= NM_001386201.1:c.517G>A NM_001386201.1:c.517G>C
melanoma-associated antigen 4 NP_002353.3:p.Ala173= NP_002353.3:p.Ala173Thr NP_002353.3:p.Ala173Pro
melanoma-associated antigen 4 NP_001373127.1:p.Ala173= NP_001373127.1:p.Ala173Thr NP_001373127.1:p.Ala173Pro
melanoma-associated antigen 4 NP_001373131.1:p.Ala173= NP_001373131.1:p.Ala173Thr NP_001373131.1:p.Ala173Pro
melanoma-associated antigen 4 NP_001373128.1:p.Ala173= NP_001373128.1:p.Ala173Thr NP_001373128.1:p.Ala173Pro
melanoma-associated antigen 4 NP_001373132.1:p.Ala173= NP_001373132.1:p.Ala173Thr NP_001373132.1:p.Ala173Pro
melanoma-associated antigen 4 NP_001373129.1:p.Ala173= NP_001373129.1:p.Ala173Thr NP_001373129.1:p.Ala173Pro
melanoma-associated antigen 4 NP_001373126.1:p.Ala173= NP_001373126.1:p.Ala173Thr NP_001373126.1:p.Ala173Pro
melanoma-associated antigen 4 NP_001011548.1:p.Ala173= NP_001011548.1:p.Ala173Thr NP_001011548.1:p.Ala173Pro
melanoma-associated antigen 4 NP_001011549.1:p.Ala173= NP_001011549.1:p.Ala173Thr NP_001011549.1:p.Ala173Pro
melanoma-associated antigen 4 NP_001373125.1:p.Ala173= NP_001373125.1:p.Ala173Thr NP_001373125.1:p.Ala173Pro
melanoma-associated antigen 4 NP_001011550.1:p.Ala173= NP_001011550.1:p.Ala173Thr NP_001011550.1:p.Ala173Pro
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#.

88 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1519167 Oct 05, 2000 (86)
2 LEE ss4411236 May 29, 2002 (106)
3 WI_SSAHASNP ss6668350 Feb 20, 2003 (111)
4 SC_SNP ss8201529 Apr 21, 2003 (114)
5 SC_SNP ss8518522 Jul 11, 2003 (116)
6 SSAHASNP ss20999812 Apr 05, 2004 (121)
7 PERLEGEN ss24723508 Sep 20, 2004 (124)
8 MGC_GENOME_DIFF ss28497940 Sep 24, 2004 (126)
9 MGC_GENOME_DIFF ss28512755 Sep 24, 2004 (126)
10 ABI ss43816021 Mar 10, 2006 (126)
11 PERLEGEN ss69268587 May 17, 2007 (127)
12 AFFY ss74807878 Aug 16, 2007 (128)
13 HGSV ss86003530 Dec 14, 2007 (130)
14 HGSV ss86006596 Dec 14, 2007 (130)
15 ILLUMINA-UK ss115667543 Feb 14, 2009 (130)
16 ENSEMBL ss133696547 Dec 01, 2009 (131)
17 SEATTLESEQ ss159745918 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss163345493 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss166637167 Jul 04, 2010 (132)
20 BUSHMAN ss204400237 Jul 04, 2010 (132)
21 1000GENOMES ss210994851 Jul 14, 2010 (132)
22 BL ss256153141 May 09, 2011 (134)
23 GMI ss283904866 May 04, 2012 (137)
24 GMI ss287658940 Apr 25, 2013 (138)
25 PJP ss294526764 May 09, 2011 (134)
26 1000GENOMES ss341899396 May 09, 2011 (134)
27 NHLBI-ESP ss342561027 May 09, 2011 (134)
28 1000GENOMES ss491205293 May 04, 2012 (137)
29 EXOME_CHIP ss491580359 May 04, 2012 (137)
30 CLINSEQ_SNP ss491954965 May 04, 2012 (137)
31 TISHKOFF ss567101703 Apr 25, 2013 (138)
32 JMKIDD_LAB ss1067611839 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1083203425 Aug 21, 2014 (142)
34 DDI ss1432145274 Apr 01, 2015 (144)
35 1000GENOMES ss1556643839 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1641761412 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1684755445 Apr 01, 2015 (144)
38 EVA_EXAC ss1694639112 Apr 01, 2015 (144)
39 EVA_MGP ss1711591646 Apr 01, 2015 (144)
40 WEILL_CORNELL_DGM ss1939839289 Feb 12, 2016 (147)
41 GENOMED ss1971455490 Jul 19, 2016 (147)
42 USC_VALOUEV ss2159300163 Dec 20, 2016 (150)
43 HUMAN_LONGEVITY ss2321226817 Dec 20, 2016 (150)
44 SYSTEMSBIOZJU ss2629798292 Nov 08, 2017 (151)
45 GRF ss2710413299 Nov 08, 2017 (151)
46 GNOMAD ss2745589865 Nov 08, 2017 (151)
47 GNOMAD ss2746155615 Nov 08, 2017 (151)
48 GNOMAD ss2984610025 Nov 08, 2017 (151)
49 AFFY ss2985492972 Nov 08, 2017 (151)
50 SWEGEN ss3020804544 Nov 08, 2017 (151)
51 EVA_SAMSUNG_MC ss3023065311 Nov 08, 2017 (151)
52 BIOINF_KMB_FNS_UNIBA ss3029143964 Nov 08, 2017 (151)
53 OMUKHERJEE_ADBS ss3646576126 Oct 12, 2018 (152)
54 URBANLAB ss3651353185 Oct 12, 2018 (152)
55 ILLUMINA ss3654260691 Oct 12, 2018 (152)
56 EVA ss3770754623 Jul 14, 2019 (153)
57 PACBIO ss3788970433 Jul 14, 2019 (153)
58 PACBIO ss3793839481 Jul 14, 2019 (153)
59 PACBIO ss3798724459 Jul 14, 2019 (153)
60 KHV_HUMAN_GENOMES ss3823512268 Jul 14, 2019 (153)
61 EVA ss3825510896 Apr 27, 2020 (154)
62 EVA ss3825534664 Apr 27, 2020 (154)
63 EVA ss3825548795 Apr 27, 2020 (154)
64 EVA ss3836362743 Apr 27, 2020 (154)
65 EVA ss3841779763 Apr 27, 2020 (154)
66 EVA ss3847319332 Apr 27, 2020 (154)
67 SGDP_PRJ ss3892505086 Apr 27, 2020 (154)
68 KRGDB ss3943238132 Apr 27, 2020 (154)
69 FSA-LAB ss3984445579 Apr 26, 2021 (155)
70 EVA ss3986090183 Apr 26, 2021 (155)
71 EVA ss3986886791 Apr 26, 2021 (155)
72 TOPMED ss5141175963 Apr 26, 2021 (155)
73 TOMMO_GENOMICS ss5236755896 Apr 26, 2021 (155)
74 EVA ss5237058017 Apr 26, 2021 (155)
75 1000G_HIGH_COVERAGE ss5314320497 Oct 13, 2022 (156)
76 HUGCELL_USP ss5505678821 Oct 13, 2022 (156)
77 1000G_HIGH_COVERAGE ss5623634311 Oct 13, 2022 (156)
78 EVA ss5623985331 Oct 13, 2022 (156)
79 EVA ss5624193218 Oct 13, 2022 (156)
80 SANFORD_IMAGENETICS ss5666076920 Oct 13, 2022 (156)
81 TOMMO_GENOMICS ss5799272628 Oct 13, 2022 (156)
82 EVA ss5800239953 Oct 13, 2022 (156)
83 YY_MCH ss5819444773 Oct 13, 2022 (156)
84 EVA ss5848747565 Oct 13, 2022 (156)
85 EVA ss5857238675 Oct 13, 2022 (156)
86 EVA ss5936581657 Oct 13, 2022 (156)
87 EVA ss5979224633 Oct 13, 2022 (156)
88 EVA ss5981176949 Oct 13, 2022 (156)
89 1000Genomes NC_000023.10 - 151092653 Oct 12, 2018 (152)
90 1000Genomes_30x NC_000023.11 - 151924181 Oct 13, 2022 (156)
91 The Avon Longitudinal Study of Parents and Children NC_000023.10 - 151092653 Oct 12, 2018 (152)
92 ExAC NC_000023.10 - 151092653 Oct 12, 2018 (152)
93 gnomAD - Exomes NC_000023.10 - 151092653 Jul 14, 2019 (153)
94 GO Exome Sequencing Project NC_000023.10 - 151092653 Oct 12, 2018 (152)
95 KOREAN population from KRGDB NC_000023.10 - 151092653 Apr 27, 2020 (154)
96 Medical Genome Project healthy controls from Spanish population NC_000023.10 - 151092653 Apr 27, 2020 (154)
97 Qatari NC_000023.10 - 151092653 Apr 27, 2020 (154)
98 SGDP_PRJ NC_000023.10 - 151092653 Apr 27, 2020 (154)
99 Siberian NC_000023.10 - 151092653 Apr 27, 2020 (154)
100 8.3KJPN NC_000023.10 - 151092653 Apr 26, 2021 (155)
101 14KJPN NC_000023.11 - 151924181 Oct 13, 2022 (156)
102 TopMed NC_000023.11 - 151924181 Apr 26, 2021 (155)
103 UK 10K study - Twins NC_000023.10 - 151092653 Oct 12, 2018 (152)
104 A Vietnamese Genetic Variation Database NC_000023.10 - 151092653 Jul 14, 2019 (153)
105 ALFA NC_000023.11 - 151924181 Apr 26, 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)
rs3187282 Jul 03, 2002 (106)
rs17220978 Dec 02, 2004 (124)
rs17845555 Mar 10, 2006 (126)
rs17858453 Mar 10, 2006 (126)
rs52807844 Sep 21, 2007 (128)
rs57643014 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss86003530, ss86006596 NC_000023.8:150763220:G:A NC_000023.11:151924180:G:A (self)
ss115667543, ss163345493, ss166637167, ss204400237, ss210994851, ss256153141, ss283904866, ss287658940, ss294526764, ss491954965 NC_000023.9:150843308:G:A NC_000023.11:151924180:G:A (self)
84597614, 46586073, 10149761, 14919872, 1967643, 50415526, 707406, 21881211, 44522066, 11816517, 94725203, 46586073, 10234846, ss341899396, ss342561027, ss491205293, ss491580359, ss567101703, ss1067611839, ss1083203425, ss1432145274, ss1556643839, ss1641761412, ss1684755445, ss1694639112, ss1711591646, ss1939839289, ss1971455490, ss2159300163, ss2629798292, ss2710413299, ss2745589865, ss2746155615, ss2984610025, ss2985492972, ss3020804544, ss3023065311, ss3646576126, ss3654260691, ss3770754623, ss3788970433, ss3793839481, ss3798724459, ss3825510896, ss3825534664, ss3825548795, ss3836362743, ss3841779763, ss3892505086, ss3943238132, ss3984445579, ss3986090183, ss3986886791, ss5236755896, ss5623985331, ss5624193218, ss5666076920, ss5800239953, ss5848747565, ss5936581657, ss5979224633, ss5981176949 NC_000023.10:151092652:G:A NC_000023.11:151924180:G:A (self)
111160246, 133109732, 704782320, 7150560552, ss2321226817, ss3029143964, ss3651353185, ss3823512268, ss3847319332, ss5141175963, ss5237058017, ss5314320497, ss5505678821, ss5623634311, ss5799272628, ss5819444773, ss5857238675 NC_000023.11:151924180:G:A NC_000023.11:151924180:G:A (self)
ss8518522 NT_011726.10:1616885:G:A NC_000023.11:151924180:G:A (self)
ss20999812 NT_011726.11:1952354:G:A NC_000023.11:151924180:G:A (self)
ss1519167, ss4411236, ss6668350, ss8201529, ss24723508, ss28497940, ss28512755, ss43816021, ss69268587, ss74807878, ss133696547, ss159745918 NT_167198.1:2010590:G:A NC_000023.11:151924180:G:A (self)
50415526, ss3943238132 NC_000023.10:151092652:G:C NC_000023.11:151924180:G:C (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 rs1047251

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