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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.

rs2477703

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:2494553 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.198296 (52487/264690, TOPMED)
C=0.254627 (50881/199826, ALFA)
C=0.214001 (29994/140158, GnomAD) (+ 18 more)
C=0.01239 (350/28258, 14KJPN)
C=0.01277 (214/16760, 8.3KJPN)
C=0.1640 (1050/6404, 1000G_30x)
C=0.1651 (827/5008, 1000G)
C=0.3105 (1391/4480, Estonian)
C=0.2654 (1023/3854, ALSPAC)
C=0.2772 (1028/3708, TWINSUK)
C=0.0154 (45/2928, KOREAN)
C=0.1907 (397/2082, HGDP_Stanford)
C=0.1797 (340/1892, HapMap)
C=0.269 (268/998, GoNL)
C=0.300 (180/600, NorthernSweden)
C=0.174 (90/518, SGDP_PRJ)
C=0.273 (59/216, Qatari)
C=0.079 (17/214, Vietnamese)
C=0.23 (13/56, Siberian)
C=0.17 (8/48, Ancient Sardinia)
C=0.30 (12/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PLCH2 : 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 199826 C=0.254627 T=0.745373
European Sub 172600 C=0.264710 T=0.735290
African Sub 7092 C=0.1311 T=0.8689
African Others Sub 264 C=0.114 T=0.886
African American Sub 6828 C=0.1318 T=0.8682
Asian Sub 702 C=0.053 T=0.947
East Asian Sub 556 C=0.041 T=0.959
Other Asian Sub 146 C=0.096 T=0.904
Latin American 1 Sub 844 C=0.204 T=0.796
Latin American 2 Sub 6908 C=0.1773 T=0.8227
South Asian Sub 5042 C=0.2557 T=0.7443
Other Sub 6638 C=0.2318 T=0.7682


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=0.198296 T=0.801704
Allele Frequency Aggregator Total Global 199826 C=0.254627 T=0.745373
Allele Frequency Aggregator European Sub 172600 C=0.264710 T=0.735290
Allele Frequency Aggregator African Sub 7092 C=0.1311 T=0.8689
Allele Frequency Aggregator Latin American 2 Sub 6908 C=0.1773 T=0.8227
Allele Frequency Aggregator Other Sub 6638 C=0.2318 T=0.7682
Allele Frequency Aggregator South Asian Sub 5042 C=0.2557 T=0.7443
Allele Frequency Aggregator Latin American 1 Sub 844 C=0.204 T=0.796
Allele Frequency Aggregator Asian Sub 702 C=0.053 T=0.947
gnomAD - Genomes Global Study-wide 140158 C=0.214001 T=0.785999
gnomAD - Genomes European Sub 75884 C=0.27301 T=0.72699
gnomAD - Genomes African Sub 42008 C=0.12462 T=0.87538
gnomAD - Genomes American Sub 13660 C=0.18551 T=0.81449
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.2787 T=0.7213
gnomAD - Genomes East Asian Sub 3134 C=0.0380 T=0.9620
gnomAD - Genomes Other Sub 2150 C=0.2153 T=0.7847
14KJPN JAPANESE Study-wide 28258 C=0.01239 T=0.98761
8.3KJPN JAPANESE Study-wide 16760 C=0.01277 T=0.98723
1000Genomes_30x Global Study-wide 6404 C=0.1640 T=0.8360
1000Genomes_30x African Sub 1786 C=0.1131 T=0.8869
1000Genomes_30x Europe Sub 1266 C=0.2796 T=0.7204
1000Genomes_30x South Asian Sub 1202 C=0.2030 T=0.7970
1000Genomes_30x East Asian Sub 1170 C=0.0436 T=0.9564
1000Genomes_30x American Sub 980 C=0.203 T=0.797
1000Genomes Global Study-wide 5008 C=0.1651 T=0.8349
1000Genomes African Sub 1322 C=0.1195 T=0.8805
1000Genomes East Asian Sub 1008 C=0.0456 T=0.9544
1000Genomes Europe Sub 1006 C=0.2753 T=0.7247
1000Genomes South Asian Sub 978 C=0.211 T=0.789
1000Genomes American Sub 694 C=0.202 T=0.798
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.3105 T=0.6895
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.2654 T=0.7346
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.2772 T=0.7228
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.0154 T=0.9846
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 C=0.1907 T=0.8093
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.081 T=0.919
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.258 T=0.742
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.280 T=0.720
HGDP-CEPH-db Supplement 1 Europe Sub 318 C=0.220 T=0.780
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.174 T=0.826
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.069 T=0.931
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.38 T=0.62
HapMap Global Study-wide 1892 C=0.1797 T=0.8203
HapMap American Sub 770 C=0.216 T=0.784
HapMap African Sub 692 C=0.172 T=0.828
HapMap Asian Sub 254 C=0.016 T=0.984
HapMap Europe Sub 176 C=0.290 T=0.710
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.269 T=0.731
Northern Sweden ACPOP Study-wide 600 C=0.300 T=0.700
SGDP_PRJ Global Study-wide 518 C=0.174 T=0.826
Qatari Global Study-wide 216 C=0.273 T=0.727
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.079 T=0.921
Siberian Global Study-wide 56 C=0.23 T=0.77
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 48 C=0.17 T=0.83
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 1 NC_000001.11:g.2494553C>T
GRCh37.p13 chr 1 NC_000001.10:g.2425992C>T
GRCh38.p14 chr 1 alt locus HSCHR1_1_CTG3 NT_187515.1:g.45743C>T
Gene: PLCH2, phospholipase C eta 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PLCH2 transcript variant 2 NM_001303012.2:c.1579-303…

NM_001303012.2:c.1579-303C>T

N/A Intron Variant
PLCH2 transcript variant 3 NM_001303013.1:c.1720-303…

NM_001303013.1:c.1720-303C>T

N/A Intron Variant
PLCH2 transcript variant 1 NM_014638.4:c.1660-303C>T N/A Intron Variant
PLCH2 transcript variant X1 XM_047435023.1:c.1921-303…

XM_047435023.1:c.1921-303C>T

N/A Intron Variant
PLCH2 transcript variant X2 XM_047435024.1:c.1921-303…

XM_047435024.1:c.1921-303C>T

N/A Intron Variant
PLCH2 transcript variant X3 XM_047435025.1:c.1921-303…

XM_047435025.1:c.1921-303C>T

N/A Intron Variant
PLCH2 transcript variant X4 XM_047435028.1:c.1651-303…

XM_047435028.1:c.1651-303C>T

N/A Intron Variant
PLCH2 transcript variant X5 XM_047435029.1:c.1651-303…

XM_047435029.1:c.1651-303C>T

N/A Intron Variant
PLCH2 transcript variant X6 XM_047435033.1:c.1921-303…

XM_047435033.1:c.1921-303C>T

N/A Intron Variant
PLCH2 transcript variant X7 XM_047435034.1:c.1921-303…

XM_047435034.1:c.1921-303C>T

N/A Intron Variant
PLCH2 transcript variant X8 XM_047435038.1:c.1921-303…

XM_047435038.1:c.1921-303C>T

N/A Intron Variant
PLCH2 transcript variant X9 XM_047435039.1:c.1921-303…

XM_047435039.1:c.1921-303C>T

N/A Intron 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= T
GRCh38.p14 chr 1 NC_000001.11:g.2494553= NC_000001.11:g.2494553C>T
GRCh37.p13 chr 1 NC_000001.10:g.2425992= NC_000001.10:g.2425992C>T
GRCh38.p14 chr 1 alt locus HSCHR1_1_CTG3 NT_187515.1:g.45743= NT_187515.1:g.45743C>T
PLCH2 transcript variant 2 NM_001303012.2:c.1579-303= NM_001303012.2:c.1579-303C>T
PLCH2 transcript variant 3 NM_001303013.1:c.1720-303= NM_001303013.1:c.1720-303C>T
PLCH2 transcript NM_014638.2:c.1660-303= NM_014638.2:c.1660-303C>T
PLCH2 transcript variant 1 NM_014638.4:c.1660-303= NM_014638.4:c.1660-303C>T
PLCH2 transcript variant X1 XM_047435023.1:c.1921-303= XM_047435023.1:c.1921-303C>T
PLCH2 transcript variant X2 XM_047435024.1:c.1921-303= XM_047435024.1:c.1921-303C>T
PLCH2 transcript variant X3 XM_047435025.1:c.1921-303= XM_047435025.1:c.1921-303C>T
PLCH2 transcript variant X4 XM_047435028.1:c.1651-303= XM_047435028.1:c.1651-303C>T
PLCH2 transcript variant X5 XM_047435029.1:c.1651-303= XM_047435029.1:c.1651-303C>T
PLCH2 transcript variant X6 XM_047435033.1:c.1921-303= XM_047435033.1:c.1921-303C>T
PLCH2 transcript variant X7 XM_047435034.1:c.1921-303= XM_047435034.1:c.1921-303C>T
PLCH2 transcript variant X8 XM_047435038.1:c.1921-303= XM_047435038.1:c.1921-303C>T
PLCH2 transcript variant X9 XM_047435039.1:c.1921-303= XM_047435039.1:c.1921-303C>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#.

136 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3472667 Sep 28, 2001 (100)
2 WI_SSAHASNP ss6396696 Feb 20, 2003 (111)
3 SC_SNP ss12992927 Dec 05, 2003 (119)
4 CSHL-HAPMAP ss19873732 Feb 27, 2004 (120)
5 SSAHASNP ss20612780 Apr 05, 2004 (121)
6 PERLEGEN ss24238088 Sep 20, 2004 (123)
7 ABI ss44035150 Mar 13, 2006 (126)
8 ILLUMINA ss66613648 Nov 29, 2006 (127)
9 ILLUMINA ss67256709 Nov 29, 2006 (127)
10 ILLUMINA ss67655173 Nov 29, 2006 (127)
11 PERLEGEN ss68756445 May 16, 2007 (127)
12 ILLUMINA ss70735061 May 24, 2008 (130)
13 ILLUMINA ss71305094 May 16, 2007 (127)
14 ILLUMINA ss75446937 Dec 06, 2007 (129)
15 ILLUMINA ss79136582 Dec 14, 2007 (130)
16 KRIBB_YJKIM ss84052644 Dec 14, 2007 (130)
17 BCMHGSC_JDW ss87166346 Mar 23, 2008 (129)
18 HUMANGENOME_JCVI ss97914349 Feb 04, 2009 (130)
19 BGI ss105113638 Dec 01, 2009 (131)
20 1000GENOMES ss107942294 Jan 22, 2009 (130)
21 1000GENOMES ss109952000 Jan 24, 2009 (130)
22 ILLUMINA-UK ss118445283 Feb 14, 2009 (130)
23 ILLUMINA ss120244557 Dec 01, 2009 (131)
24 ILLUMINA ss122044368 Dec 01, 2009 (131)
25 ENSEMBL ss131770069 Dec 01, 2009 (131)
26 ENSEMBL ss137759092 Dec 01, 2009 (131)
27 ILLUMINA ss153914988 Dec 01, 2009 (131)
28 GMI ss154543693 Dec 01, 2009 (131)
29 ILLUMINA ss159392775 Dec 01, 2009 (131)
30 ILLUMINA ss160551331 Dec 01, 2009 (131)
31 COMPLETE_GENOMICS ss162993263 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss163722517 Jul 04, 2010 (132)
33 ILLUMINA ss171273234 Jul 04, 2010 (132)
34 ILLUMINA ss173363810 Jul 04, 2010 (132)
35 BUSHMAN ss197906404 Jul 04, 2010 (132)
36 BCM-HGSC-SUB ss205052450 Jul 04, 2010 (132)
37 1000GENOMES ss218196674 Jul 14, 2010 (132)
38 1000GENOMES ss230399900 Jul 14, 2010 (132)
39 1000GENOMES ss238119125 Jul 15, 2010 (132)
40 ILLUMINA ss244255175 Jul 04, 2010 (132)
41 ILLUMINA ss244290723 Jul 04, 2010 (132)
42 BL ss252872545 May 09, 2011 (134)
43 GMI ss275686672 May 04, 2012 (137)
44 GMI ss283989558 Apr 25, 2013 (138)
45 PJP ss290496284 May 09, 2011 (134)
46 ILLUMINA ss480581091 May 04, 2012 (137)
47 ILLUMINA ss480595604 May 04, 2012 (137)
48 ILLUMINA ss481419564 Sep 08, 2015 (146)
49 ILLUMINA ss485086060 May 04, 2012 (137)
50 ILLUMINA ss537095434 Sep 08, 2015 (146)
51 TISHKOFF ss553724594 Apr 25, 2013 (138)
52 SSMP ss647527556 Apr 25, 2013 (138)
53 ILLUMINA ss778870410 Sep 08, 2015 (146)
54 ILLUMINA ss782989299 Sep 08, 2015 (146)
55 ILLUMINA ss783950128 Sep 08, 2015 (146)
56 ILLUMINA ss825467100 Jul 19, 2016 (147)
57 ILLUMINA ss832246072 Sep 08, 2015 (146)
58 ILLUMINA ss832904516 Jul 12, 2019 (153)
59 ILLUMINA ss834331300 Sep 08, 2015 (146)
60 EVA-GONL ss974784388 Aug 21, 2014 (142)
61 JMKIDD_LAB ss1067620199 Aug 21, 2014 (142)
62 1000GENOMES ss1289403329 Aug 21, 2014 (142)
63 DDI ss1425689313 Apr 01, 2015 (144)
64 EVA_GENOME_DK ss1573855981 Apr 01, 2015 (144)
65 EVA_DECODE ss1584143964 Apr 01, 2015 (144)
66 EVA_UK10K_ALSPAC ss1599404707 Apr 01, 2015 (144)
67 EVA_UK10K_TWINSUK ss1642398740 Apr 01, 2015 (144)
68 EVA_SVP ss1712306112 Apr 01, 2015 (144)
69 ILLUMINA ss1751909783 Sep 08, 2015 (146)
70 HAMMER_LAB ss1793749953 Sep 08, 2015 (146)
71 WEILL_CORNELL_DGM ss1917978329 Feb 12, 2016 (147)
72 GENOMED ss1966669437 Jul 19, 2016 (147)
73 JJLAB ss2019505724 Sep 14, 2016 (149)
74 ILLUMINA ss2094839644 Dec 20, 2016 (150)
75 ILLUMINA ss2094949014 Dec 20, 2016 (150)
76 USC_VALOUEV ss2147494501 Dec 20, 2016 (150)
77 HUMAN_LONGEVITY ss2159481231 Dec 20, 2016 (150)
78 SYSTEMSBIOZJU ss2624268783 Nov 08, 2017 (151)
79 ILLUMINA ss2632467090 Nov 08, 2017 (151)
80 GRF ss2697386433 Nov 08, 2017 (151)
81 GNOMAD ss2750829004 Nov 08, 2017 (151)
82 SWEGEN ss2986177262 Nov 08, 2017 (151)
83 BIOINF_KMB_FNS_UNIBA ss3023516828 Nov 08, 2017 (151)
84 CSHL ss3343281271 Nov 08, 2017 (151)
85 ILLUMINA ss3626009434 Oct 11, 2018 (152)
86 ILLUMINA ss3630506734 Oct 11, 2018 (152)
87 ILLUMINA ss3632878275 Oct 11, 2018 (152)
88 ILLUMINA ss3633571802 Oct 11, 2018 (152)
89 ILLUMINA ss3634302856 Oct 11, 2018 (152)
90 ILLUMINA ss3635265992 Oct 11, 2018 (152)
91 ILLUMINA ss3635979226 Oct 11, 2018 (152)
92 ILLUMINA ss3637016339 Oct 11, 2018 (152)
93 ILLUMINA ss3637733182 Oct 11, 2018 (152)
94 ILLUMINA ss3638888011 Oct 11, 2018 (152)
95 ILLUMINA ss3639440724 Oct 11, 2018 (152)
96 ILLUMINA ss3640010221 Oct 11, 2018 (152)
97 ILLUMINA ss3640973407 Oct 11, 2018 (152)
98 ILLUMINA ss3641267219 Oct 11, 2018 (152)
99 ILLUMINA ss3642747419 Oct 11, 2018 (152)
100 URBANLAB ss3646584365 Oct 11, 2018 (152)
101 ILLUMINA ss3651368097 Oct 11, 2018 (152)
102 EGCUT_WGS ss3654284419 Jul 12, 2019 (153)
103 EVA_DECODE ss3686024872 Jul 12, 2019 (153)
104 ACPOP ss3726729413 Jul 12, 2019 (153)
105 ILLUMINA ss3744603782 Jul 12, 2019 (153)
106 EVA ss3745740094 Jul 12, 2019 (153)
107 ILLUMINA ss3772105516 Jul 12, 2019 (153)
108 PACBIO ss3783305777 Jul 12, 2019 (153)
109 PACBIO ss3788983235 Jul 12, 2019 (153)
110 PACBIO ss3793855843 Jul 12, 2019 (153)
111 KHV_HUMAN_GENOMES ss3798762571 Jul 12, 2019 (153)
112 EVA ss3825988414 Apr 25, 2020 (154)
113 EVA ss3836381440 Apr 25, 2020 (154)
114 EVA ss3841785562 Apr 25, 2020 (154)
115 HGDP ss3847322267 Apr 25, 2020 (154)
116 SGDP_PRJ ss3848038344 Apr 25, 2020 (154)
117 KRGDB ss3892886888 Apr 25, 2020 (154)
118 EVA ss3984774422 Apr 25, 2021 (155)
119 EVA ss4016889622 Apr 25, 2021 (155)
120 VINODS ss4019473653 Apr 25, 2021 (155)
121 TOPMED ss4436948481 Apr 25, 2021 (155)
122 TOMMO_GENOMICS ss5142136211 Apr 25, 2021 (155)
123 1000G_HIGH_COVERAGE ss5240923232 Oct 12, 2022 (156)
124 EVA ss5314586808 Oct 12, 2022 (156)
125 EVA ss5316286814 Oct 12, 2022 (156)
126 HUGCELL_USP ss5442158876 Oct 12, 2022 (156)
127 1000G_HIGH_COVERAGE ss5512573170 Oct 12, 2022 (156)
128 SANFORD_IMAGENETICS ss5624782038 Oct 12, 2022 (156)
129 TOMMO_GENOMICS ss5666305547 Oct 12, 2022 (156)
130 EVA ss5799472803 Oct 12, 2022 (156)
131 YY_MCH ss5800258785 Oct 12, 2022 (156)
132 EVA ss5831442094 Oct 12, 2022 (156)
133 EVA ss5848754560 Oct 12, 2022 (156)
134 EVA ss5906765114 Oct 12, 2022 (156)
135 EVA ss5936610938 Oct 12, 2022 (156)
136 EVA ss5979927956 Oct 12, 2022 (156)
137 1000Genomes NC_000001.10 - 2425992 Oct 11, 2018 (152)
138 1000Genomes_30x NC_000001.11 - 2494553 Oct 12, 2022 (156)
139 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 2425992 Oct 11, 2018 (152)
140 Genetic variation in the Estonian population NC_000001.10 - 2425992 Oct 11, 2018 (152)
141 The Danish reference pan genome NC_000001.10 - 2425992 Apr 25, 2020 (154)
142 gnomAD - Genomes NC_000001.11 - 2494553 Apr 25, 2021 (155)
143 Genome of the Netherlands Release 5 NC_000001.10 - 2425992 Apr 25, 2020 (154)
144 HGDP-CEPH-db Supplement 1 NC_000001.9 - 2415852 Apr 25, 2020 (154)
145 HapMap NC_000001.11 - 2494553 Apr 25, 2020 (154)
146 KOREAN population from KRGDB NC_000001.10 - 2425992 Apr 25, 2020 (154)
147 Northern Sweden NC_000001.10 - 2425992 Jul 12, 2019 (153)
148 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 2425992 Apr 25, 2021 (155)
149 Qatari NC_000001.10 - 2425992 Apr 25, 2020 (154)
150 SGDP_PRJ NC_000001.10 - 2425992 Apr 25, 2020 (154)
151 Siberian NC_000001.10 - 2425992 Apr 25, 2020 (154)
152 8.3KJPN NC_000001.10 - 2425992 Apr 25, 2021 (155)
153 14KJPN NC_000001.11 - 2494553 Oct 12, 2022 (156)
154 TopMed NC_000001.11 - 2494553 Apr 25, 2021 (155)
155 UK 10K study - Twins NC_000001.10 - 2425992 Oct 11, 2018 (152)
156 A Vietnamese Genetic Variation Database NC_000001.10 - 2425992 Jul 12, 2019 (153)
157 ALFA NC_000001.11 - 2494553 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs17373688 Oct 07, 2004 (123)
rs57922543 May 24, 2008 (130)
rs386567937 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638888011, ss3639440724 NC_000001.8:2458153:C:T NC_000001.11:2494552:C:T (self)
159, ss87166346, ss107942294, ss109952000, ss118445283, ss162993263, ss163722517, ss197906404, ss205052450, ss252872545, ss275686672, ss283989558, ss290496284, ss480581091, ss825467100, ss1584143964, ss1712306112, ss2094839644, ss3642747419, ss3847322267 NC_000001.9:2415851:C:T NC_000001.11:2494552:C:T (self)
70129, 29238, 22667, 1363215, 12382, 64282, 14278, 349, 20259, 55324, 10855, 105518, 29238, 6026, ss218196674, ss230399900, ss238119125, ss480595604, ss481419564, ss485086060, ss537095434, ss553724594, ss647527556, ss778870410, ss782989299, ss783950128, ss832246072, ss832904516, ss834331300, ss974784388, ss1067620199, ss1289403329, ss1425689313, ss1573855981, ss1599404707, ss1642398740, ss1751909783, ss1793749953, ss1917978329, ss1966669437, ss2019505724, ss2094949014, ss2147494501, ss2624268783, ss2632467090, ss2697386433, ss2750829004, ss2986177262, ss3343281271, ss3626009434, ss3630506734, ss3632878275, ss3633571802, ss3634302856, ss3635265992, ss3635979226, ss3637016339, ss3637733182, ss3640010221, ss3640973407, ss3641267219, ss3651368097, ss3654284419, ss3726729413, ss3744603782, ss3745740094, ss3772105516, ss3783305777, ss3788983235, ss3793855843, ss3825988414, ss3836381440, ss3848038344, ss3892886888, ss3984774422, ss4016889622, ss5142136211, ss5314586808, ss5316286814, ss5624782038, ss5799472803, ss5831442094, ss5936610938, ss5979927956 NC_000001.10:2425991:C:T NC_000001.11:2494552:C:T (self)
99105, 520075, 1260, 142651, 554816, 14978928727, ss2159481231, ss3023516828, ss3646584365, ss3686024872, ss3798762571, ss3841785562, ss4436948481, ss5240923232, ss5442158876, ss5512573170, ss5666305547, ss5800258785, ss5848754560, ss5906765114 NC_000001.11:2494552:C:T NC_000001.11:2494552:C:T (self)
ss12992927 NT_004350.15:173582:C:T NC_000001.11:2494552:C:T (self)
ss19873732, ss20612780 NT_004350.16:403653:C:T NC_000001.11:2494552:C:T (self)
ss3472667, ss6396696, ss24238088, ss44035150, ss66613648, ss67256709, ss67655173, ss68756445, ss70735061, ss71305094, ss75446937, ss79136582, ss84052644, ss97914349, ss105113638, ss120244557, ss122044368, ss131770069, ss137759092, ss153914988, ss154543693, ss159392775, ss160551331, ss171273234, ss173363810, ss244255175, ss244290723 NT_004350.19:1904623:C:T NC_000001.11:2494552:C:T (self)
ss4019473653 NT_187515.1:45742:C:T NC_000001.11:2494552: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 rs2477703

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