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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.

rs300913

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:143355490 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.328584 (86973/264690, TOPMED)
C=0.376634 (91385/242636, ALFA)
C=0.330015 (46181/139936, GnomAD) (+ 21 more)
C=0.29273 (23035/78690, PAGE_STUDY)
C=0.25196 (7120/28258, 14KJPN)
C=0.25209 (4225/16760, 8.3KJPN)
C=0.3245 (2078/6404, 1000G_30x)
C=0.3289 (1647/5008, 1000G)
C=0.3993 (1789/4480, Estonian)
C=0.3682 (1419/3854, ALSPAC)
C=0.3768 (1397/3708, TWINSUK)
C=0.2246 (658/2930, KOREAN)
C=0.3594 (749/2084, HGDP_Stanford)
C=0.2817 (533/1892, HapMap)
C=0.2342 (429/1832, Korea1K)
C=0.389 (388/998, GoNL)
C=0.237 (186/786, PRJEB37584)
C=0.370 (222/600, NorthernSweden)
C=0.265 (129/486, SGDP_PRJ)
C=0.245 (53/216, Qatari)
C=0.306 (66/216, Vietnamese)
C=0.31 (18/58, Ancient Sardinia)
C=0.23 (11/48, Siberian)
C=0.30 (12/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GAB1 : 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 247672 C=0.375795 A=0.000000, T=0.624205
European Sub 213366 C=0.380487 A=0.000000, T=0.619513
African Sub 8898 C=0.2523 A=0.0000, T=0.7477
African Others Sub 306 C=0.199 A=0.000, T=0.801
African American Sub 8592 C=0.2542 A=0.0000, T=0.7458
Asian Sub 828 C=0.268 A=0.000, T=0.732
East Asian Sub 650 C=0.260 A=0.000, T=0.740
Other Asian Sub 178 C=0.298 A=0.000, T=0.702
Latin American 1 Sub 988 C=0.365 A=0.000, T=0.635
Latin American 2 Sub 9054 C=0.3722 A=0.0000, T=0.6278
South Asian Sub 5060 C=0.4785 A=0.0000, T=0.5215
Other Sub 9478 C=0.3452 A=0.0000, T=0.6548


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=0.328584 T=0.671416
Allele Frequency Aggregator Total Global 242636 C=0.376634 A=0.000000, T=0.623366
Allele Frequency Aggregator European Sub 210272 C=0.380707 A=0.000000, T=0.619293
Allele Frequency Aggregator Latin American 2 Sub 9054 C=0.3722 A=0.0000, T=0.6278
Allele Frequency Aggregator Other Sub 8678 C=0.3448 A=0.0000, T=0.6552
Allele Frequency Aggregator African Sub 7756 C=0.2536 A=0.0000, T=0.7464
Allele Frequency Aggregator South Asian Sub 5060 C=0.4785 A=0.0000, T=0.5215
Allele Frequency Aggregator Latin American 1 Sub 988 C=0.365 A=0.000, T=0.635
Allele Frequency Aggregator Asian Sub 828 C=0.268 A=0.000, T=0.732
gnomAD - Genomes Global Study-wide 139936 C=0.330015 T=0.669985
gnomAD - Genomes European Sub 75800 C=0.37427 T=0.62573
gnomAD - Genomes African Sub 41924 C=0.24936 T=0.75064
gnomAD - Genomes American Sub 13630 C=0.33404 T=0.66596
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.3859 T=0.6141
gnomAD - Genomes East Asian Sub 3116 C=0.2503 T=0.7497
gnomAD - Genomes Other Sub 2144 C=0.3461 T=0.6539
The PAGE Study Global Study-wide 78690 C=0.29273 T=0.70727
The PAGE Study AfricanAmerican Sub 32514 C=0.25017 T=0.74983
The PAGE Study Mexican Sub 10804 C=0.35783 T=0.64217
The PAGE Study Asian Sub 8316 C=0.2486 T=0.7514
The PAGE Study PuertoRican Sub 7918 C=0.3301 T=0.6699
The PAGE Study NativeHawaiian Sub 4534 C=0.2746 T=0.7254
The PAGE Study Cuban Sub 4230 C=0.3478 T=0.6522
The PAGE Study Dominican Sub 3828 C=0.3187 T=0.6813
The PAGE Study CentralAmerican Sub 2450 C=0.3396 T=0.6604
The PAGE Study SouthAmerican Sub 1980 C=0.3571 T=0.6429
The PAGE Study NativeAmerican Sub 1260 C=0.3802 T=0.6198
The PAGE Study SouthAsian Sub 856 C=0.467 T=0.533
14KJPN JAPANESE Study-wide 28258 C=0.25196 T=0.74804
8.3KJPN JAPANESE Study-wide 16760 C=0.25209 T=0.74791
1000Genomes_30x Global Study-wide 6404 C=0.3245 T=0.6755
1000Genomes_30x African Sub 1786 C=0.2195 T=0.7805
1000Genomes_30x Europe Sub 1266 C=0.3618 T=0.6382
1000Genomes_30x South Asian Sub 1202 C=0.4742 T=0.5258
1000Genomes_30x East Asian Sub 1170 C=0.2641 T=0.7359
1000Genomes_30x American Sub 980 C=0.356 T=0.644
1000Genomes Global Study-wide 5008 C=0.3289 T=0.6711
1000Genomes African Sub 1322 C=0.2224 T=0.7776
1000Genomes East Asian Sub 1008 C=0.2708 T=0.7292
1000Genomes Europe Sub 1006 C=0.3658 T=0.6342
1000Genomes South Asian Sub 978 C=0.479 T=0.521
1000Genomes American Sub 694 C=0.352 T=0.648
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.3993 T=0.6007
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.3682 T=0.6318
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.3768 T=0.6232
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.2246 T=0.7754
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.3594 T=0.6406
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.296 T=0.704
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.406 T=0.594
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.329 T=0.671
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.431 T=0.569
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.215 T=0.785
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.495 T=0.505
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.42 T=0.58
HapMap Global Study-wide 1892 C=0.2817 T=0.7183
HapMap American Sub 770 C=0.352 T=0.648
HapMap African Sub 692 C=0.181 T=0.819
HapMap Asian Sub 254 C=0.248 T=0.752
HapMap Europe Sub 176 C=0.420 T=0.580
Korean Genome Project KOREAN Study-wide 1832 C=0.2342 T=0.7658
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.389 T=0.611
CNV burdens in cranial meningiomas Global Study-wide 786 C=0.237 T=0.763
CNV burdens in cranial meningiomas CRM Sub 786 C=0.237 T=0.763
Northern Sweden ACPOP Study-wide 600 C=0.370 T=0.630
SGDP_PRJ Global Study-wide 486 C=0.265 T=0.735
Qatari Global Study-wide 216 C=0.245 T=0.755
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.306 T=0.694
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 58 C=0.31 T=0.69
Siberian Global Study-wide 48 C=0.23 T=0.77
The Danish reference pan genome Danish Study-wide 40 C=0.30 T=0.70
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 4 NC_000004.12:g.143355490C>A
GRCh38.p14 chr 4 NC_000004.12:g.143355490C>T
GRCh37.p13 chr 4 NC_000004.11:g.144276643C>A
GRCh37.p13 chr 4 NC_000004.11:g.144276643C>T
Gene: GAB1, GRB2 associated binding protein 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GAB1 transcript variant 2 NM_002039.4:c.72+18230C>A N/A Intron Variant
GAB1 transcript variant 1 NM_207123.3:c.72+18230C>A N/A Intron Variant
GAB1 transcript variant X9 XM_017007969.2:c.-238+103…

XM_017007969.2:c.-238+10355C>A

 		N/A Intron Variant
GAB1 transcript variant X10 XM_017007970.2:c.-238+130…

XM_017007970.2:c.-238+1302C>A

 		N/A Intron Variant
GAB1 transcript variant X3 XM_047449969.1:c.-4249+10…

XM_047449969.1:c.-4249+10355C>A

 		N/A Intron Variant
GAB1 transcript variant X11 XM_006714167.5:c. N/A Genic Upstream Transcript Variant
GAB1 transcript variant X7 XM_006714168.5:c. N/A Genic Upstream Transcript Variant
GAB1 transcript variant X1 XM_017007966.2:c. N/A Genic Upstream Transcript Variant
GAB1 transcript variant X4 XM_017007967.2:c. N/A Genic Upstream Transcript Variant
GAB1 transcript variant X5 XM_017007968.2:c. N/A Genic Upstream Transcript Variant
GAB1 transcript variant X2 XM_047449968.1:c. N/A Genic Upstream Transcript Variant
GAB1 transcript variant X6 XM_047449970.1:c. N/A Genic Upstream Transcript Variant
GAB1 transcript variant X8 XM_047449971.1:c. N/A Genic Upstream Transcript Variant
GAB1 transcript variant X12 XM_047449972.1:c. N/A Genic Upstream Transcript Variant
GAB1 transcript variant X13 XM_047449973.1:c. N/A Genic Upstream Transcript Variant
GAB1 transcript variant X14 XM_047449974.1:c. N/A Genic Upstream 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 C= A T
GRCh38.p14 chr 4 NC_000004.12:g.143355490= NC_000004.12:g.143355490C>A NC_000004.12:g.143355490C>T
GRCh37.p13 chr 4 NC_000004.11:g.144276643= NC_000004.11:g.144276643C>A NC_000004.11:g.144276643C>T
GAB1 transcript variant 2 NM_002039.3:c.72+18230= NM_002039.3:c.72+18230C>A NM_002039.3:c.72+18230C>T
GAB1 transcript variant 2 NM_002039.4:c.72+18230= NM_002039.4:c.72+18230C>A NM_002039.4:c.72+18230C>T
GAB1 transcript variant 1 NM_207123.2:c.72+18230= NM_207123.2:c.72+18230C>A NM_207123.2:c.72+18230C>T
GAB1 transcript variant 1 NM_207123.3:c.72+18230= NM_207123.3:c.72+18230C>A NM_207123.3:c.72+18230C>T
GAB1 transcript variant X1 XM_005262881.1:c.72+18230= XM_005262881.1:c.72+18230C>A XM_005262881.1:c.72+18230C>T
GAB1 transcript variant X2 XM_005262882.1:c.72+18230= XM_005262882.1:c.72+18230C>A XM_005262882.1:c.72+18230C>T
GAB1 transcript variant X9 XM_017007969.2:c.-238+10355= XM_017007969.2:c.-238+10355C>A XM_017007969.2:c.-238+10355C>T
GAB1 transcript variant X10 XM_017007970.2:c.-238+1302= XM_017007970.2:c.-238+1302C>A XM_017007970.2:c.-238+1302C>T
GAB1 transcript variant X3 XM_047449969.1:c.-4249+10355= XM_047449969.1:c.-4249+10355C>A XM_047449969.1:c.-4249+10355C>T
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#.

144 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss388402 Jul 12, 2000 (79)
2 SC_JCM ss670870 Aug 11, 2000 (83)
3 KWOK ss1167820 Oct 04, 2000 (86)
4 KWOK ss1168695 Oct 04, 2000 (86)
5 KWOK ss1862337 Oct 18, 2000 (102)
6 KWOK ss1862601 Oct 18, 2000 (87)
7 WI_SSAHASNP ss14626783 Dec 05, 2003 (119)
8 SSAHASNP ss22177915 Apr 05, 2004 (121)
9 ABI ss42395410 Mar 15, 2006 (126)
10 AFFY ss66218239 Nov 30, 2006 (127)
11 ILLUMINA ss67287935 Nov 30, 2006 (127)
12 ILLUMINA ss67691050 Nov 30, 2006 (127)
13 ILLUMINA ss68216900 Dec 12, 2006 (127)
14 ILLUMINA ss70766499 May 25, 2008 (130)
15 ILLUMINA ss71341159 May 17, 2007 (127)
16 ILLUMINA ss75520578 Dec 07, 2007 (129)
17 AFFY ss76364586 Dec 07, 2007 (129)
18 KRIBB_YJKIM ss83419041 Dec 15, 2007 (130)
19 HGSV ss84191601 Dec 15, 2007 (130)
20 HGSV ss84212589 Dec 15, 2007 (130)
21 BCMHGSC_JDW ss92811832 Mar 24, 2008 (129)
22 HUMANGENOME_JCVI ss98871064 Feb 05, 2009 (130)
23 BGI ss105871272 Feb 05, 2009 (130)
24 1000GENOMES ss110733207 Jan 25, 2009 (130)
25 ILLUMINA-UK ss117221397 Feb 14, 2009 (130)
26 ENSEMBL ss135108548 Dec 01, 2009 (131)
27 ENSEMBL ss139934491 Dec 01, 2009 (131)
28 ILLUMINA ss154251384 Dec 01, 2009 (131)
29 GMI ss158010755 Dec 01, 2009 (131)
30 ILLUMINA ss159428332 Dec 01, 2009 (131)
31 ILLUMINA ss160606368 Dec 01, 2009 (131)
32 COMPLETE_GENOMICS ss162626570 Jul 04, 2010 (132)
33 COMPLETE_GENOMICS ss164597975 Jul 04, 2010 (132)
34 COMPLETE_GENOMICS ss167254427 Jul 04, 2010 (132)
35 AFFY ss173389993 Jun 24, 2010 (142)
36 ILLUMINA ss173551337 Jul 04, 2010 (132)
37 BUSHMAN ss199291332 Jul 04, 2010 (132)
38 BCM-HGSC-SUB ss206496026 Jul 04, 2010 (132)
39 1000GENOMES ss210589284 Jul 14, 2010 (132)
40 1000GENOMES ss221265135 Jul 14, 2010 (132)
41 1000GENOMES ss232637682 Jul 14, 2010 (132)
42 1000GENOMES ss239876441 Jul 15, 2010 (132)
43 GMI ss277971214 May 04, 2012 (137)
44 GMI ss285023497 Apr 25, 2013 (138)
45 PJP ss293207373 May 09, 2011 (134)
46 ILLUMINA ss480740091 May 04, 2012 (137)
47 ILLUMINA ss480755933 May 04, 2012 (137)
48 ILLUMINA ss481639877 Sep 08, 2015 (146)
49 ILLUMINA ss485164791 May 04, 2012 (137)
50 ILLUMINA ss537157032 Sep 08, 2015 (146)
51 TISHKOFF ss557915619 Apr 25, 2013 (138)
52 SSMP ss651733869 Apr 25, 2013 (138)
53 ILLUMINA ss778514528 Sep 08, 2015 (146)
54 ILLUMINA ss783028629 Sep 08, 2015 (146)
55 ILLUMINA ss783988398 Sep 08, 2015 (146)
56 ILLUMINA ss832286231 Sep 08, 2015 (146)
57 ILLUMINA ss832939951 Jul 13, 2019 (153)
58 ILLUMINA ss833970833 Sep 08, 2015 (146)
59 EVA-GONL ss980780513 Aug 21, 2014 (142)
60 JMKIDD_LAB ss1072034946 Aug 21, 2014 (142)
61 1000GENOMES ss1312195975 Aug 21, 2014 (142)
62 DDI ss1430081569 Apr 01, 2015 (144)
63 EVA_GENOME_DK ss1580818277 Apr 01, 2015 (144)
64 EVA_DECODE ss1590293366 Apr 01, 2015 (144)
65 EVA_UK10K_ALSPAC ss1611373097 Apr 01, 2015 (144)
66 EVA_UK10K_TWINSUK ss1654367130 Apr 01, 2015 (144)
67 EVA_SVP ss1712712806 Apr 01, 2015 (144)
68 ILLUMINA ss1752501105 Sep 08, 2015 (146)
69 HAMMER_LAB ss1802334014 Sep 08, 2015 (146)
70 WEILL_CORNELL_DGM ss1924021906 Feb 12, 2016 (147)
71 ILLUMINA ss1946128950 Feb 12, 2016 (147)
72 ILLUMINA ss1958726566 Feb 12, 2016 (147)
73 GENOMED ss1969895210 Jul 19, 2016 (147)
74 JJLAB ss2022598371 Sep 14, 2016 (149)
75 USC_VALOUEV ss2150729918 Dec 20, 2016 (150)
76 HUMAN_LONGEVITY ss2267935570 Dec 20, 2016 (150)
77 SYSTEMSBIOZJU ss2625795534 Nov 08, 2017 (151)
78 ILLUMINA ss2634188551 Nov 08, 2017 (151)
79 GRF ss2706222438 Nov 08, 2017 (151)
80 ILLUMINA ss2711017809 Nov 08, 2017 (151)
81 GNOMAD ss2816351595 Nov 08, 2017 (151)
82 SWEGEN ss2995711779 Nov 08, 2017 (151)
83 ILLUMINA ss3022422494 Nov 08, 2017 (151)
84 BIOINF_KMB_FNS_UNIBA ss3025076708 Nov 08, 2017 (151)
85 CSHL ss3346007497 Nov 08, 2017 (151)
86 ILLUMINA ss3625857430 Oct 12, 2018 (152)
87 ILLUMINA ss3629083896 Oct 12, 2018 (152)
88 ILLUMINA ss3632120708 Oct 12, 2018 (152)
89 ILLUMINA ss3633351627 Oct 12, 2018 (152)
90 ILLUMINA ss3634071243 Oct 12, 2018 (152)
91 ILLUMINA ss3634973848 Oct 12, 2018 (152)
92 ILLUMINA ss3635753782 Oct 12, 2018 (152)
93 ILLUMINA ss3636680875 Oct 12, 2018 (152)
94 ILLUMINA ss3637506345 Oct 12, 2018 (152)
95 ILLUMINA ss3638516229 Oct 12, 2018 (152)
96 ILLUMINA ss3639260376 Oct 12, 2018 (152)
97 ILLUMINA ss3639928451 Oct 12, 2018 (152)
98 ILLUMINA ss3640681142 Oct 12, 2018 (152)
99 ILLUMINA ss3641168848 Oct 12, 2018 (152)
100 ILLUMINA ss3641465775 Oct 12, 2018 (152)
101 ILLUMINA ss3643465325 Oct 12, 2018 (152)
102 ILLUMINA ss3643974409 Oct 12, 2018 (152)
103 ILLUMINA ss3644861783 Oct 12, 2018 (152)
104 URBANLAB ss3647871980 Oct 12, 2018 (152)
105 ILLUMINA ss3652912568 Oct 12, 2018 (152)
106 EGCUT_WGS ss3663621454 Jul 13, 2019 (153)
107 EVA_DECODE ss3713247136 Jul 13, 2019 (153)
108 ILLUMINA ss3726177421 Jul 13, 2019 (153)
109 ACPOP ss3731693473 Jul 13, 2019 (153)
110 ILLUMINA ss3744242604 Jul 13, 2019 (153)
111 ILLUMINA ss3745274070 Jul 13, 2019 (153)
112 EVA ss3762528266 Jul 13, 2019 (153)
113 PAGE_CC ss3771158715 Jul 13, 2019 (153)
114 ILLUMINA ss3772768532 Jul 13, 2019 (153)
115 PACBIO ss3784889604 Jul 13, 2019 (153)
116 PACBIO ss3790321993 Jul 13, 2019 (153)
117 PACBIO ss3795197538 Jul 13, 2019 (153)
118 KHV_HUMAN_GENOMES ss3805689800 Jul 13, 2019 (153)
119 EVA ss3828859062 Apr 26, 2020 (154)
120 EVA ss3837879030 Apr 26, 2020 (154)
121 EVA ss3843318959 Apr 26, 2020 (154)
122 HGDP ss3847767586 Apr 26, 2020 (154)
123 SGDP_PRJ ss3860258125 Apr 26, 2020 (154)
124 KRGDB ss3906589899 Apr 26, 2020 (154)
125 KOGIC ss3955300344 Apr 26, 2020 (154)
126 EVA ss3984536291 Apr 26, 2021 (155)
127 EVA ss3985100398 Apr 26, 2021 (155)
128 EVA ss4017172760 Apr 26, 2021 (155)
129 TOPMED ss4635333475 Apr 26, 2021 (155)
130 TOMMO_GENOMICS ss5168435727 Apr 26, 2021 (155)
131 1000G_HIGH_COVERAGE ss5261356042 Oct 17, 2022 (156)
132 EVA ss5314997040 Oct 17, 2022 (156)
133 EVA ss5352906175 Oct 17, 2022 (156)
134 HUGCELL_USP ss5459879914 Oct 17, 2022 (156)
135 EVA ss5507768310 Oct 17, 2022 (156)
136 1000G_HIGH_COVERAGE ss5543628200 Oct 17, 2022 (156)
137 SANFORD_IMAGENETICS ss5636291049 Oct 17, 2022 (156)
138 TOMMO_GENOMICS ss5703546008 Oct 17, 2022 (156)
139 EVA ss5799629304 Oct 17, 2022 (156)
140 YY_MCH ss5805621738 Oct 17, 2022 (156)
141 EVA ss5844845164 Oct 17, 2022 (156)
142 EVA ss5854486927 Oct 17, 2022 (156)
143 EVA ss5865885599 Oct 17, 2022 (156)
144 EVA ss5964695250 Oct 17, 2022 (156)
145 1000Genomes NC_000004.11 - 144276643 Oct 12, 2018 (152)
146 1000Genomes_30x NC_000004.12 - 143355490 Oct 17, 2022 (156)
147 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 144276643 Oct 12, 2018 (152)
148 Genetic variation in the Estonian population NC_000004.11 - 144276643 Oct 12, 2018 (152)
149 The Danish reference pan genome NC_000004.11 - 144276643 Apr 26, 2020 (154)
150 gnomAD - Genomes NC_000004.12 - 143355490 Apr 26, 2021 (155)
151 Genome of the Netherlands Release 5 NC_000004.11 - 144276643 Apr 26, 2020 (154)
152 HGDP-CEPH-db Supplement 1 NC_000004.10 - 144496093 Apr 26, 2020 (154)
153 HapMap NC_000004.12 - 143355490 Apr 26, 2020 (154)
154 KOREAN population from KRGDB NC_000004.11 - 144276643 Apr 26, 2020 (154)
155 Korean Genome Project NC_000004.12 - 143355490 Apr 26, 2020 (154)
156 Northern Sweden NC_000004.11 - 144276643 Jul 13, 2019 (153)
157 The PAGE Study NC_000004.12 - 143355490 Jul 13, 2019 (153)
158 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000004.11 - 144276643 Apr 26, 2021 (155)
159 CNV burdens in cranial meningiomas NC_000004.11 - 144276643 Apr 26, 2021 (155)
160 Qatari NC_000004.11 - 144276643 Apr 26, 2020 (154)
161 SGDP_PRJ NC_000004.11 - 144276643 Apr 26, 2020 (154)
162 Siberian NC_000004.11 - 144276643 Apr 26, 2020 (154)
163 8.3KJPN NC_000004.11 - 144276643 Apr 26, 2021 (155)
164 14KJPN NC_000004.12 - 143355490 Oct 17, 2022 (156)
165 TopMed NC_000004.12 - 143355490 Apr 26, 2021 (155)
166 UK 10K study - Twins NC_000004.11 - 144276643 Oct 12, 2018 (152)
167 A Vietnamese Genetic Variation Database NC_000004.11 - 144276643 Jul 13, 2019 (153)
168 ALFA NC_000004.12 - 143355490 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)
rs1239411 Jan 04, 2002 (102)
rs58932442 May 25, 2008 (130)
rs111195990 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
6532019508 NC_000004.12:143355489:C:A NC_000004.12:143355489:C:A (self)
ss84191601, ss84212589, ss3639260376, ss3639928451, ss3643974409 NC_000004.9:144634247:C:T NC_000004.12:143355489:C:T (self)
445478, ss66218239, ss76364586, ss92811832, ss110733207, ss117221397, ss162626570, ss164597975, ss167254427, ss173389993, ss199291332, ss206496026, ss210589284, ss277971214, ss285023497, ss293207373, ss480740091, ss1590293366, ss1712712806, ss3643465325, ss3847767586 NC_000004.10:144496092:C:T NC_000004.12:143355489:C:T (self)
23686010, 13172787, 9359702, 6983216, 5835815, 13767293, 4978338, 326325, 85653, 6063836, 12275105, 3246272, 26405034, 13172787, 2907104, ss221265135, ss232637682, ss239876441, ss480755933, ss481639877, ss485164791, ss537157032, ss557915619, ss651733869, ss778514528, ss783028629, ss783988398, ss832286231, ss832939951, ss833970833, ss980780513, ss1072034946, ss1312195975, ss1430081569, ss1580818277, ss1611373097, ss1654367130, ss1752501105, ss1802334014, ss1924021906, ss1946128950, ss1958726566, ss1969895210, ss2022598371, ss2150729918, ss2625795534, ss2634188551, ss2706222438, ss2711017809, ss2816351595, ss2995711779, ss3022422494, ss3346007497, ss3625857430, ss3629083896, ss3632120708, ss3633351627, ss3634071243, ss3634973848, ss3635753782, ss3636680875, ss3637506345, ss3638516229, ss3640681142, ss3641168848, ss3641465775, ss3644861783, ss3652912568, ss3663621454, ss3731693473, ss3744242604, ss3745274070, ss3762528266, ss3772768532, ss3784889604, ss3790321993, ss3795197538, ss3828859062, ss3837879030, ss3860258125, ss3906589899, ss3984536291, ss3985100398, ss4017172760, ss5168435727, ss5314997040, ss5352906175, ss5507768310, ss5636291049, ss5799629304, ss5844845164, ss5964695250 NC_000004.11:144276642:C:T NC_000004.12:143355489:C:T (self)
31154135, 167773183, 2726756, 11678345, 380184, 37383112, 472711031, 6532019508, ss2267935570, ss3025076708, ss3647871980, ss3713247136, ss3726177421, ss3771158715, ss3805689800, ss3843318959, ss3955300344, ss4635333475, ss5261356042, ss5459879914, ss5543628200, ss5703546008, ss5805621738, ss5854486927, ss5865885599 NC_000004.12:143355489:C:T NC_000004.12:143355489:C:T (self)
ss388402, ss670870, ss1167820, ss1168695, ss1862337, ss1862601, ss42395410, ss67287935, ss67691050, ss68216900, ss70766499, ss71341159, ss75520578, ss83419041, ss98871064, ss105871272, ss135108548, ss139934491, ss154251384, ss158010755, ss159428332, ss160606368, ss173551337 NT_016354.19:68824363:C:T NC_000004.12:143355489:C:T (self)
ss14626783, ss22177915 NT_016606.16:5824698:C:T NC_000004.12:143355489:C:T (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 rs300913

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