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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.

rs4325116

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:231789295 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.403857 (106897/264690, TOPMED)
G=0.404556 (56629/139978, GnomAD)
G=0.37150 (10497/28256, 14KJPN) (+ 17 more)
G=0.37939 (9091/23962, ALFA)
G=0.37232 (6240/16760, 8.3KJPN)
G=0.3835 (2456/6404, 1000G_30x)
G=0.3866 (1936/5008, 1000G)
G=0.3607 (1616/4480, Estonian)
G=0.3726 (1436/3854, ALSPAC)
G=0.3824 (1418/3708, TWINSUK)
G=0.3771 (1105/2930, KOREAN)
G=0.4190 (792/1890, HapMap)
G=0.3739 (685/1832, Korea1K)
G=0.379 (378/998, GoNL)
G=0.343 (206/600, NorthernSweden)
G=0.266 (118/444, SGDP_PRJ)
A=0.495 (107/216, Qatari)
G=0.448 (95/212, Vietnamese)
G=0.27 (13/48, Siberian)
G=0.33 (13/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DISC1 : Intron Variant
TSNAX-DISC1 : Intron 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 23962 G=0.37939 A=0.62061
European Sub 15664 G=0.37832 A=0.62168
African Sub 3624 G=0.4672 A=0.5328
African Others Sub 126 G=0.484 A=0.516
African American Sub 3498 G=0.4666 A=0.5334
Asian Sub 160 G=0.419 A=0.581
East Asian Sub 102 G=0.451 A=0.549
Other Asian Sub 58 G=0.36 A=0.64
Latin American 1 Sub 292 G=0.466 A=0.534
Latin American 2 Sub 2766 G=0.2733 A=0.7267
South Asian Sub 110 G=0.309 A=0.691
Other Sub 1346 G=0.3559 A=0.6441


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=0.403857 A=0.596143
gnomAD - Genomes Global Study-wide 139978 G=0.404556 A=0.595444
gnomAD - Genomes European Sub 75834 G=0.38286 A=0.61714
gnomAD - Genomes African Sub 41902 G=0.46664 A=0.53336
gnomAD - Genomes American Sub 13642 G=0.32554 A=0.67446
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.4190 A=0.5810
gnomAD - Genomes East Asian Sub 3126 G=0.4322 A=0.5678
gnomAD - Genomes Other Sub 2154 G=0.3988 A=0.6012
14KJPN JAPANESE Study-wide 28256 G=0.37150 A=0.62850
Allele Frequency Aggregator Total Global 23962 G=0.37939 A=0.62061
Allele Frequency Aggregator European Sub 15664 G=0.37832 A=0.62168
Allele Frequency Aggregator African Sub 3624 G=0.4672 A=0.5328
Allele Frequency Aggregator Latin American 2 Sub 2766 G=0.2733 A=0.7267
Allele Frequency Aggregator Other Sub 1346 G=0.3559 A=0.6441
Allele Frequency Aggregator Latin American 1 Sub 292 G=0.466 A=0.534
Allele Frequency Aggregator Asian Sub 160 G=0.419 A=0.581
Allele Frequency Aggregator South Asian Sub 110 G=0.309 A=0.691
8.3KJPN JAPANESE Study-wide 16760 G=0.37232 A=0.62768
1000Genomes_30x Global Study-wide 6404 G=0.3835 A=0.6165
1000Genomes_30x African Sub 1786 G=0.4614 A=0.5386
1000Genomes_30x Europe Sub 1266 G=0.3894 A=0.6106
1000Genomes_30x South Asian Sub 1202 G=0.3062 A=0.6938
1000Genomes_30x East Asian Sub 1170 G=0.4265 A=0.5735
1000Genomes_30x American Sub 980 G=0.278 A=0.722
1000Genomes Global Study-wide 5008 G=0.3866 A=0.6134
1000Genomes African Sub 1322 G=0.4599 A=0.5401
1000Genomes East Asian Sub 1008 G=0.4256 A=0.5744
1000Genomes Europe Sub 1006 G=0.3996 A=0.6004
1000Genomes South Asian Sub 978 G=0.305 A=0.695
1000Genomes American Sub 694 G=0.287 A=0.713
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3607 A=0.6393
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3726 A=0.6274
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3824 A=0.6176
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.3771 A=0.6229
HapMap Global Study-wide 1890 G=0.4190 A=0.5810
HapMap American Sub 768 G=0.349 A=0.651
HapMap African Sub 692 G=0.513 A=0.487
HapMap Asian Sub 254 G=0.378 A=0.622
HapMap Europe Sub 176 G=0.415 A=0.585
Korean Genome Project KOREAN Study-wide 1832 G=0.3739 A=0.6261
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.379 A=0.621
Northern Sweden ACPOP Study-wide 600 G=0.343 A=0.657
SGDP_PRJ Global Study-wide 444 G=0.266 A=0.734
Qatari Global Study-wide 216 G=0.505 A=0.495
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.448 A=0.552
Siberian Global Study-wide 48 G=0.27 A=0.73
The Danish reference pan genome Danish Study-wide 40 G=0.33 A=0.68
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.231789295G>A
GRCh37.p13 chr 1 NC_000001.10:g.231925041G>A
DISC1 RefSeqGene NG_011681.2:g.167481G>A
Gene: DISC1, DISC1 scaffold protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DISC1 transcript variant Lv NM_001012957.2:c.1635-594…

NM_001012957.2:c.1635-5947G>A

 		N/A Intron Variant
DISC1 transcript variant S NM_001012959.2:c.1635-594…

NM_001012959.2:c.1635-5947G>A

 		N/A Intron Variant
DISC1 transcript variant a NM_001164537.2:c.1731-594…

NM_001164537.2:c.1731-5947G>A

 		N/A Intron Variant
DISC1 transcript variant b NM_001164538.2:c.1635-594…

NM_001164538.2:c.1635-5947G>A

 		N/A Intron Variant
DISC1 transcript variant c NM_001164539.2:c.1635-594…

NM_001164539.2:c.1635-5947G>A

 		N/A Intron Variant
DISC1 transcript variant d NM_001164540.2:c.1269-594…

NM_001164540.2:c.1269-5947G>A

 		N/A Intron Variant
DISC1 transcript variant e NM_001164541.2:c.1635-594…

NM_001164541.2:c.1635-5947G>A

 		N/A Intron Variant
DISC1 transcript variant f NM_001164542.2:c.1635-594…

NM_001164542.2:c.1635-5947G>A

 		N/A Intron Variant
DISC1 transcript variant g NM_001164544.2:c.1635-594…

NM_001164544.2:c.1635-5947G>A

 		N/A Intron Variant
DISC1 transcript variant h NM_001164545.2:c.1635-594…

NM_001164545.2:c.1635-5947G>A

 		N/A Intron Variant
DISC1 transcript variant i NM_001164546.2:c.1634+182…

NM_001164546.2:c.1634+18225G>A

 		N/A Intron Variant
DISC1 transcript variant j NM_001164547.2:c.1634+182…

NM_001164547.2:c.1634+18225G>A

 		N/A Intron Variant
DISC1 transcript variant k NM_001164548.2:c.1634+182…

NM_001164548.2:c.1634+18225G>A

 		N/A Intron Variant
DISC1 transcript variant t NM_001164556.2:c.584+1822…

NM_001164556.2:c.584+18225G>A

 		N/A Intron Variant
DISC1 transcript variant L NM_018662.3:c.1635-5947G>A N/A Intron Variant
DISC1 transcript variant Es NM_001012958.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant l NM_001164549.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant m NM_001164550.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant n NM_001164551.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant o NM_001164552.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant p NM_001164553.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant q NM_001164554.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant r NM_001164555.2:c. N/A Genic Downstream Transcript Variant
Gene: TSNAX-DISC1, TSNAX-DISC1 readthrough (NMD candidate) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TSNAX-DISC1 transcript variant 1 NR_028393.1:n. N/A Intron Variant
TSNAX-DISC1 transcript variant 2 NR_028394.1:n. N/A Intron Variant
TSNAX-DISC1 transcript variant 3 NR_028395.1:n. N/A Intron Variant
TSNAX-DISC1 transcript variant 4 NR_028396.1:n. N/A Intron Variant
TSNAX-DISC1 transcript variant 5 NR_028397.1:n. N/A Intron Variant
TSNAX-DISC1 transcript variant 6 NR_028398.1:n. N/A Intron Variant
TSNAX-DISC1 transcript variant 7 NR_028399.1:n. N/A Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 8 NR_028400.1:n. N/A Genic Downstream Transcript 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.p14 chr 1 NC_000001.11:g.231789295= NC_000001.11:g.231789295G>A
GRCh37.p13 chr 1 NC_000001.10:g.231925041= NC_000001.10:g.231925041G>A
DISC1 RefSeqGene NG_011681.2:g.167481= NG_011681.2:g.167481G>A
DISC1 transcript variant Lv NM_001012957.1:c.1635-5947= NM_001012957.1:c.1635-5947G>A
DISC1 transcript variant Lv NM_001012957.2:c.1635-5947= NM_001012957.2:c.1635-5947G>A
DISC1 transcript variant S NM_001012959.1:c.1635-5947= NM_001012959.1:c.1635-5947G>A
DISC1 transcript variant S NM_001012959.2:c.1635-5947= NM_001012959.2:c.1635-5947G>A
DISC1 transcript variant a NM_001164537.1:c.1731-5947= NM_001164537.1:c.1731-5947G>A
DISC1 transcript variant a NM_001164537.2:c.1731-5947= NM_001164537.2:c.1731-5947G>A
DISC1 transcript variant b NM_001164538.1:c.1635-5947= NM_001164538.1:c.1635-5947G>A
DISC1 transcript variant b NM_001164538.2:c.1635-5947= NM_001164538.2:c.1635-5947G>A
DISC1 transcript variant c NM_001164539.1:c.1635-5947= NM_001164539.1:c.1635-5947G>A
DISC1 transcript variant c NM_001164539.2:c.1635-5947= NM_001164539.2:c.1635-5947G>A
DISC1 transcript variant d NM_001164540.1:c.1269-5947= NM_001164540.1:c.1269-5947G>A
DISC1 transcript variant d NM_001164540.2:c.1269-5947= NM_001164540.2:c.1269-5947G>A
DISC1 transcript variant e NM_001164541.1:c.1635-5947= NM_001164541.1:c.1635-5947G>A
DISC1 transcript variant e NM_001164541.2:c.1635-5947= NM_001164541.2:c.1635-5947G>A
DISC1 transcript variant f NM_001164542.1:c.1635-5947= NM_001164542.1:c.1635-5947G>A
DISC1 transcript variant f NM_001164542.2:c.1635-5947= NM_001164542.2:c.1635-5947G>A
DISC1 transcript variant g NM_001164544.1:c.1635-5947= NM_001164544.1:c.1635-5947G>A
DISC1 transcript variant g NM_001164544.2:c.1635-5947= NM_001164544.2:c.1635-5947G>A
DISC1 transcript variant h NM_001164545.1:c.1635-5947= NM_001164545.1:c.1635-5947G>A
DISC1 transcript variant h NM_001164545.2:c.1635-5947= NM_001164545.2:c.1635-5947G>A
DISC1 transcript variant i NM_001164546.1:c.1634+18225= NM_001164546.1:c.1634+18225G>A
DISC1 transcript variant i NM_001164546.2:c.1634+18225= NM_001164546.2:c.1634+18225G>A
DISC1 transcript variant j NM_001164547.1:c.1634+18225= NM_001164547.1:c.1634+18225G>A
DISC1 transcript variant j NM_001164547.2:c.1634+18225= NM_001164547.2:c.1634+18225G>A
DISC1 transcript variant k NM_001164548.1:c.1634+18225= NM_001164548.1:c.1634+18225G>A
DISC1 transcript variant k NM_001164548.2:c.1634+18225= NM_001164548.2:c.1634+18225G>A
DISC1 transcript variant t NM_001164556.1:c.584+18225= NM_001164556.1:c.584+18225G>A
DISC1 transcript variant t NM_001164556.2:c.584+18225= NM_001164556.2:c.584+18225G>A
DISC1 transcript variant L NM_018662.2:c.1635-5947= NM_018662.2:c.1635-5947G>A
DISC1 transcript variant L NM_018662.3:c.1635-5947= NM_018662.3:c.1635-5947G>A
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#.

83 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss5742558 Feb 20, 2003 (111)
2 SSAHASNP ss20515563 Apr 05, 2004 (121)
3 PERLEGEN ss23242261 Sep 20, 2004 (123)
4 PERLEGEN ss68796208 May 17, 2007 (127)
5 AFFY ss76588045 Dec 08, 2007 (129)
6 HGSV ss78802823 Dec 06, 2007 (129)
7 HGSV ss85230192 Dec 14, 2007 (130)
8 BCMHGSC_JDW ss88006376 Mar 23, 2008 (129)
9 HUMANGENOME_JCVI ss98010698 Feb 04, 2009 (130)
10 BGI ss102831366 Dec 01, 2009 (131)
11 KRIBB_YJKIM ss104894347 Feb 04, 2009 (130)
12 1000GENOMES ss109027173 Jan 23, 2009 (130)
13 1000GENOMES ss111925917 Jan 25, 2009 (130)
14 ILLUMINA-UK ss119243905 Feb 15, 2009 (130)
15 ENSEMBL ss138171999 Dec 01, 2009 (131)
16 ENSEMBL ss139038722 Dec 01, 2009 (131)
17 GMI ss156410344 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss165386793 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss165891713 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss167561480 Jul 04, 2010 (132)
21 BUSHMAN ss199739866 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss205312772 Jul 04, 2010 (132)
23 1000GENOMES ss218937804 Jul 14, 2010 (132)
24 1000GENOMES ss230944007 Jul 14, 2010 (132)
25 1000GENOMES ss238550070 Jul 15, 2010 (132)
26 BL ss253888171 May 09, 2011 (134)
27 GMI ss276259011 May 04, 2012 (137)
28 GMI ss284246439 Apr 25, 2013 (138)
29 PJP ss290754786 May 09, 2011 (134)
30 ILLUMINA ss535621601 Sep 08, 2015 (146)
31 TISHKOFF ss555205263 Apr 25, 2013 (138)
32 SSMP ss648778160 Apr 25, 2013 (138)
33 EVA-GONL ss976254493 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1068684655 Aug 21, 2014 (142)
35 1000GENOMES ss1295065566 Aug 21, 2014 (142)
36 DDI ss1426143145 Apr 01, 2015 (144)
37 EVA_GENOME_DK ss1574747897 Apr 01, 2015 (144)
38 EVA_DECODE ss1585654245 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1602361103 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1645355136 Apr 01, 2015 (144)
41 EVA_SVP ss1712413510 Apr 01, 2015 (144)
42 HAMMER_LAB ss1795875782 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1919475724 Feb 12, 2016 (147)
44 GENOMED ss1966998634 Jul 19, 2016 (147)
45 JJLAB ss2020263131 Sep 14, 2016 (149)
46 USC_VALOUEV ss2148299226 Dec 20, 2016 (150)
47 HUMAN_LONGEVITY ss2170943405 Dec 20, 2016 (150)
48 SYSTEMSBIOZJU ss2624643632 Nov 08, 2017 (151)
49 GRF ss2698299505 Nov 08, 2017 (151)
50 GNOMAD ss2767396119 Nov 08, 2017 (151)
51 AFFY ss2985541050 Nov 08, 2017 (151)
52 SWEGEN ss2988621475 Nov 08, 2017 (151)
53 BIOINF_KMB_FNS_UNIBA ss3023892424 Nov 08, 2017 (151)
54 CSHL ss3343960384 Nov 08, 2017 (151)
55 ILLUMINA ss3626332596 Oct 11, 2018 (152)
56 URBANLAB ss3646909185 Oct 11, 2018 (152)
57 EGCUT_WGS ss3656580335 Jul 12, 2019 (153)
58 EVA_DECODE ss3688834235 Jul 12, 2019 (153)
59 ACPOP ss3727952760 Jul 12, 2019 (153)
60 EVA ss3747467236 Jul 12, 2019 (153)
61 PACBIO ss3783715474 Jul 12, 2019 (153)
62 PACBIO ss3789323096 Jul 12, 2019 (153)
63 PACBIO ss3794195507 Jul 12, 2019 (153)
64 KHV_HUMAN_GENOMES ss3800469064 Jul 12, 2019 (153)
65 EVA ss3826697877 Apr 25, 2020 (154)
66 EVA ss3836750628 Apr 25, 2020 (154)
67 EVA ss3842163083 Apr 25, 2020 (154)
68 SGDP_PRJ ss3851114217 Apr 25, 2020 (154)
69 KRGDB ss3896462417 Apr 25, 2020 (154)
70 KOGIC ss3946709370 Apr 25, 2020 (154)
71 TOPMED ss4487220527 Apr 27, 2021 (155)
72 TOMMO_GENOMICS ss5148909971 Apr 27, 2021 (155)
73 1000G_HIGH_COVERAGE ss5246158569 Oct 13, 2022 (156)
74 EVA ss5325453289 Oct 13, 2022 (156)
75 HUGCELL_USP ss5446558461 Oct 13, 2022 (156)
76 1000G_HIGH_COVERAGE ss5520438187 Oct 13, 2022 (156)
77 SANFORD_IMAGENETICS ss5627652671 Oct 13, 2022 (156)
78 TOMMO_GENOMICS ss5676809334 Oct 13, 2022 (156)
79 YY_MCH ss5801731723 Oct 13, 2022 (156)
80 EVA ss5833409043 Oct 13, 2022 (156)
81 EVA ss5849331697 Oct 13, 2022 (156)
82 EVA ss5912392055 Oct 13, 2022 (156)
83 EVA ss5939500987 Oct 13, 2022 (156)
84 1000Genomes NC_000001.10 - 231925041 Oct 11, 2018 (152)
85 1000Genomes_30x NC_000001.11 - 231789295 Oct 13, 2022 (156)
86 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 231925041 Oct 11, 2018 (152)
87 Genetic variation in the Estonian population NC_000001.10 - 231925041 Oct 11, 2018 (152)
88 The Danish reference pan genome NC_000001.10 - 231925041 Apr 25, 2020 (154)
89 gnomAD - Genomes NC_000001.11 - 231789295 Apr 27, 2021 (155)
90 Genome of the Netherlands Release 5 NC_000001.10 - 231925041 Apr 25, 2020 (154)
91 HapMap NC_000001.11 - 231789295 Apr 25, 2020 (154)
92 KOREAN population from KRGDB NC_000001.10 - 231925041 Apr 25, 2020 (154)
93 Korean Genome Project NC_000001.11 - 231789295 Apr 25, 2020 (154)
94 Northern Sweden NC_000001.10 - 231925041 Jul 12, 2019 (153)
95 Qatari NC_000001.10 - 231925041 Apr 25, 2020 (154)
96 SGDP_PRJ NC_000001.10 - 231925041 Apr 25, 2020 (154)
97 Siberian NC_000001.10 - 231925041 Apr 25, 2020 (154)
98 8.3KJPN NC_000001.10 - 231925041 Apr 27, 2021 (155)
99 14KJPN NC_000001.11 - 231789295 Oct 13, 2022 (156)
100 TopMed NC_000001.11 - 231789295 Apr 27, 2021 (155)
101 UK 10K study - Twins NC_000001.10 - 231925041 Oct 11, 2018 (152)
102 A Vietnamese Genetic Variation Database NC_000001.10 - 231925041 Jul 12, 2019 (153)
103 ALFA NC_000001.11 - 231789295 Apr 27, 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)
rs57376144 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78802823, ss85230192 NC_000001.8:228231775:G:A NC_000001.11:231789294:G:A (self)
ss76588045, ss88006376, ss109027173, ss111925917, ss119243905, ss165386793, ss165891713, ss167561480, ss199739866, ss205312772, ss253888171, ss276259011, ss284246439, ss290754786, ss1585654245, ss1712413510 NC_000001.9:229991663:G:A NC_000001.11:231789294:G:A (self)
5935180, 3282112, 2318583, 1928429, 1434619, 3639811, 1237625, 1517654, 3131197, 815580, 6879278, 3282112, 713837, ss218937804, ss230944007, ss238550070, ss535621601, ss555205263, ss648778160, ss976254493, ss1068684655, ss1295065566, ss1426143145, ss1574747897, ss1602361103, ss1645355136, ss1795875782, ss1919475724, ss1966998634, ss2020263131, ss2148299226, ss2624643632, ss2698299505, ss2767396119, ss2985541050, ss2988621475, ss3343960384, ss3626332596, ss3656580335, ss3727952760, ss3747467236, ss3783715474, ss3789323096, ss3794195507, ss3826697877, ss3836750628, ss3851114217, ss3896462417, ss5148909971, ss5325453289, ss5627652671, ss5833409043, ss5939500987 NC_000001.10:231925040:G:A NC_000001.11:231789294:G:A (self)
7964122, 42578379, 289513, 3087371, 10646438, 50826862, 1232298995, ss2170943405, ss3023892424, ss3646909185, ss3688834235, ss3800469064, ss3842163083, ss3946709370, ss4487220527, ss5246158569, ss5446558461, ss5520438187, ss5676809334, ss5801731723, ss5849331697, ss5912392055 NC_000001.11:231789294:G:A NC_000001.11:231789294:G:A (self)
ss20515563 NT_021973.16:1856029:G:A NC_000001.11:231789294:G:A (self)
ss5742558, ss23242261, ss68796208, ss98010698, ss102831366, ss104894347, ss138171999, ss139038722, ss156410344 NT_167186.1:25442819:G:A NC_000001.11:231789294: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.

No publications for rs4325116

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