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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.

rs10965

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:88076931 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.225815 (59771/264690, TOPMED)
A=0.288687 (49776/172422, ALFA)
A=0.14504 (11415/78700, PAGE_STUDY) (+ 19 more)
A=0.00004 (1/28258, 14KJPN)
A=0.00006 (1/16760, 8.3KJPN)
A=0.1527 (978/6404, 1000G_30x)
A=0.1468 (735/5008, 1000G)
A=0.3583 (1605/4480, Estonian)
A=0.3404 (1312/3854, ALSPAC)
A=0.3306 (1226/3708, TWINSUK)
A=0.1315 (274/2084, HGDP_Stanford)
A=0.1824 (282/1546, HapMap)
A=0.2152 (244/1134, Daghestan)
A=0.338 (337/998, GoNL)
A=0.004 (3/792, PRJEB37584)
A=0.307 (184/600, NorthernSweden)
A=0.199 (43/216, Qatari)
G=0.402 (41/102, SGDP_PRJ)
A=0.42 (17/40, GENOME_DK)
A=0.00 (0/22, Ancient Sardinia)
G=0.50 (10/20, Siberian)
A=0.50 (10/20, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PKD2 : Non Coding Transcript 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 177548 G=0.711960 A=0.288040, T=0.000000
European Sub 152694 G=0.684271 A=0.315729, T=0.000000
African Sub 9060 G=0.8960 A=0.1040, T=0.0000
African Others Sub 352 G=0.923 A=0.077, T=0.000
African American Sub 8708 G=0.8949 A=0.1051, T=0.0000
Asian Sub 3400 G=0.9985 A=0.0015, T=0.0000
East Asian Sub 2758 G=0.9993 A=0.0007, T=0.0000
Other Asian Sub 642 G=0.995 A=0.005, T=0.000
Latin American 1 Sub 476 G=0.807 A=0.193, T=0.000
Latin American 2 Sub 1448 G=0.8812 A=0.1188, T=0.0000
South Asian Sub 5136 G=0.8645 A=0.1355, T=0.0000
Other Sub 5334 G=0.8080 A=0.1920, T=0.0000


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=0.774185 A=0.225815
Allele Frequency Aggregator Total Global 172422 G=0.711313 A=0.288687, T=0.000000
Allele Frequency Aggregator European Sub 149528 G=0.684561 A=0.315439, T=0.000000
Allele Frequency Aggregator African Sub 7918 G=0.9010 A=0.0990, T=0.0000
Allele Frequency Aggregator South Asian Sub 5136 G=0.8645 A=0.1355, T=0.0000
Allele Frequency Aggregator Other Sub 4516 G=0.8096 A=0.1904, T=0.0000
Allele Frequency Aggregator Asian Sub 3400 G=0.9985 A=0.0015, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 1448 G=0.8812 A=0.1188, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 476 G=0.807 A=0.193, T=0.000
The PAGE Study Global Study-wide 78700 G=0.85496 A=0.14504
The PAGE Study AfricanAmerican Sub 32514 G=0.85360 A=0.14640
The PAGE Study Mexican Sub 10810 G=0.84820 A=0.15180
The PAGE Study Asian Sub 8318 G=0.9978 A=0.0022
The PAGE Study PuertoRican Sub 7918 G=0.7919 A=0.2081
The PAGE Study NativeHawaiian Sub 4534 G=0.9131 A=0.0869
The PAGE Study Cuban Sub 4230 G=0.7395 A=0.2605
The PAGE Study Dominican Sub 3828 G=0.8007 A=0.1993
The PAGE Study CentralAmerican Sub 2450 G=0.8473 A=0.1527
The PAGE Study SouthAmerican Sub 1982 G=0.8320 A=0.1680
The PAGE Study NativeAmerican Sub 1260 G=0.7770 A=0.2230
The PAGE Study SouthAsian Sub 856 G=0.882 A=0.118
14KJPN JAPANESE Study-wide 28258 G=0.99996 A=0.00004
8.3KJPN JAPANESE Study-wide 16760 G=0.99994 A=0.00006
1000Genomes_30x Global Study-wide 6404 G=0.8473 A=0.1527
1000Genomes_30x African Sub 1786 G=0.8841 A=0.1159
1000Genomes_30x Europe Sub 1266 G=0.6438 A=0.3562
1000Genomes_30x South Asian Sub 1202 G=0.8927 A=0.1073
1000Genomes_30x East Asian Sub 1170 G=0.9991 A=0.0009
1000Genomes_30x American Sub 980 G=0.806 A=0.194
1000Genomes Global Study-wide 5008 G=0.8532 A=0.1468
1000Genomes African Sub 1322 G=0.8865 A=0.1135
1000Genomes East Asian Sub 1008 G=0.9990 A=0.0010
1000Genomes Europe Sub 1006 G=0.6561 A=0.3439
1000Genomes South Asian Sub 978 G=0.890 A=0.110
1000Genomes American Sub 694 G=0.813 A=0.187
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6417 A=0.3583
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6596 A=0.3404
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6694 A=0.3306
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.8685 A=0.1315
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.991 A=0.009
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.826 A=0.174
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.794 A=0.206
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.666 A=0.334
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.926 A=0.074
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.995 A=0.005
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=1.00 A=0.00
HapMap Global Study-wide 1546 G=0.8176 A=0.1824
HapMap African Sub 692 G=0.884 A=0.116
HapMap American Sub 598 G=0.749 A=0.251
HapMap Europe Sub 170 G=0.694 A=0.306
HapMap Asian Sub 86 G=1.00 A=0.00
Genome-wide autozygosity in Daghestan Global Study-wide 1134 G=0.7848 A=0.2152
Genome-wide autozygosity in Daghestan Daghestan Sub 626 G=0.762 A=0.238
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.819 A=0.181
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.861 A=0.139
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.657 A=0.343
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.91 A=0.09
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.83 A=0.17
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.662 A=0.338
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.996 A=0.004
CNV burdens in cranial meningiomas CRM Sub 792 G=0.996 A=0.004
Northern Sweden ACPOP Study-wide 600 G=0.693 A=0.307
Qatari Global Study-wide 216 G=0.801 A=0.199
SGDP_PRJ Global Study-wide 102 G=0.402 A=0.598
The Danish reference pan genome Danish Study-wide 40 G=0.57 A=0.42
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 22 G=1.00 A=0.00
Siberian Global Study-wide 20 G=0.50 A=0.50
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.88076931G>A
GRCh38.p14 chr 4 NC_000004.12:g.88076931G>T
GRCh37.p13 chr 4 NC_000004.11:g.88998083G>A
GRCh37.p13 chr 4 NC_000004.11:g.88998083G>T
PKD2 RefSeqGene NG_008604.1:g.74264G>A
PKD2 RefSeqGene NG_008604.1:g.74264G>T
Gene: PKD2, polycystin 2, transient receptor potential cation channel (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PKD2 transcript variant 1 NM_000297.4:c.*1237= N/A 3 Prime UTR Variant
PKD2 transcript variant 2 NR_156488.2:n.4122G>A N/A Non Coding Transcript Variant
PKD2 transcript variant 2 NR_156488.2:n.4122G>T N/A Non Coding Transcript Variant
PKD2 transcript variant X1 XM_011532028.3:c.*1237= N/A 3 Prime UTR Variant
PKD2 transcript variant X2 XM_011532029.2:c.*1237= N/A 3 Prime UTR Variant
PKD2 transcript variant X3 XM_011532030.3:c.*1237= N/A 3 Prime UTR Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 299907 )
ClinVar Accession Disease Names Clinical Significance
RCV000346249.3 Polycystic kidney disease 2 Benign
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A T
GRCh38.p14 chr 4 NC_000004.12:g.88076931= NC_000004.12:g.88076931G>A NC_000004.12:g.88076931G>T
GRCh37.p13 chr 4 NC_000004.11:g.88998083= NC_000004.11:g.88998083G>A NC_000004.11:g.88998083G>T
PKD2 RefSeqGene NG_008604.1:g.74264= NG_008604.1:g.74264G>A NG_008604.1:g.74264G>T
PKD2 transcript variant 1 NM_000297.4:c.*1237= NM_000297.4:c.*1237G>A NM_000297.4:c.*1237G>T
PKD2 transcript variant 1 NM_000297.3:c.*1237= NM_000297.3:c.*1237G>A NM_000297.3:c.*1237G>T
PKD2 transcript variant 2 NR_156488.2:n.4122= NR_156488.2:n.4122G>A NR_156488.2:n.4122G>T
PKD2 transcript variant 2 NR_156488.1:n.4110= NR_156488.1:n.4110G>A NR_156488.1:n.4110G>T
PKD2 transcript variant X1 XM_011532028.3:c.*1237= XM_011532028.3:c.*1237G>A XM_011532028.3:c.*1237G>T
PKD2 transcript variant X1 XM_011532028.2:c.*1237= XM_011532028.2:c.*1237G>A XM_011532028.2:c.*1237G>T
PKD2 transcript variant X1 XM_011532028.1:c.*1237= XM_011532028.1:c.*1237G>A XM_011532028.1:c.*1237G>T
PKD2 transcript variant X3 XM_011532030.3:c.*1237= XM_011532030.3:c.*1237G>A XM_011532030.3:c.*1237G>T
PKD2 transcript variant X3 XM_011532030.2:c.*1237= XM_011532030.2:c.*1237G>A XM_011532030.2:c.*1237G>T
PKD2 transcript variant X3 XM_011532030.1:c.*1237= XM_011532030.1:c.*1237G>A XM_011532030.1:c.*1237G>T
PKD2 transcript variant X2 XM_011532029.2:c.*1237= XM_011532029.2:c.*1237G>A XM_011532029.2:c.*1237G>T
PKD2 transcript variant X2 XM_011532029.1:c.*1237= XM_011532029.1:c.*1237G>A XM_011532029.1:c.*1237G>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#.

103 SubSNP, 23 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss13143 Sep 19, 2000 (52)
2 LEE ss1526054 Oct 13, 2000 (92)
3 LEE ss4416514 May 29, 2002 (106)
4 CGAP-GAI ss16230804 Feb 27, 2004 (120)
5 SSAHASNP ss22167447 Apr 05, 2004 (121)
6 ABI ss44534948 Mar 13, 2006 (126)
7 ILLUMINA ss66667440 Dec 01, 2006 (127)
8 ILLUMINA ss66913202 Dec 01, 2006 (127)
9 ILLUMINA ss67047890 Dec 01, 2006 (127)
10 PERLEGEN ss68904392 May 18, 2007 (127)
11 ILLUMINA ss70386246 May 18, 2007 (127)
12 ILLUMINA ss70510840 May 23, 2008 (130)
13 ILLUMINA ss71038177 May 18, 2007 (127)
14 ILLUMINA ss75569340 Dec 06, 2007 (129)
15 KRIBB_YJKIM ss83349722 Dec 14, 2007 (130)
16 HUMANGENOME_JCVI ss98979560 Feb 03, 2009 (130)
17 1000GENOMES ss108119881 Jan 23, 2009 (130)
18 ILLUMINA-UK ss117084134 Feb 14, 2009 (130)
19 ILLUMINA ss121426350 Dec 01, 2009 (131)
20 ENSEMBL ss133409252 Dec 01, 2009 (131)
21 ILLUMINA ss152891446 Dec 01, 2009 (131)
22 ILLUMINA ss159156142 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss162326857 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss166867956 Jul 04, 2010 (132)
25 ILLUMINA ss169736554 Jul 04, 2010 (132)
26 ILLUMINA ss170880737 Jul 04, 2010 (132)
27 BCM-HGSC-SUB ss206432259 Jul 04, 2010 (132)
28 1000GENOMES ss221056620 Jul 14, 2010 (132)
29 1000GENOMES ss232485291 Jul 14, 2010 (132)
30 BL ss253321665 May 09, 2011 (134)
31 GMI ss284954151 Apr 25, 2013 (138)
32 PJP ss293121876 May 09, 2011 (134)
33 ILLUMINA ss482380970 May 04, 2012 (137)
34 ILLUMINA ss484879789 May 04, 2012 (137)
35 ILLUMINA ss534624135 Sep 08, 2015 (146)
36 ILLUMINA ss779491488 Sep 08, 2015 (146)
37 ILLUMINA ss781742443 Sep 08, 2015 (146)
38 ILLUMINA ss825355679 Jul 19, 2016 (147)
39 ILLUMINA ss832668750 Jul 13, 2019 (153)
40 ILLUMINA ss834961617 Sep 08, 2015 (146)
41 EVA-GONL ss980362501 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1071723776 Aug 21, 2014 (142)
43 1000GENOMES ss1310666284 Aug 21, 2014 (142)
44 HAMMER_LAB ss1397381442 Sep 08, 2015 (146)
45 DDI ss1429958873 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1580655729 Apr 01, 2015 (144)
47 EVA_DECODE ss1589864623 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1610569793 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1653563826 Apr 01, 2015 (144)
50 EVA_SVP ss1712688192 Apr 01, 2015 (144)
51 WEILL_CORNELL_DGM ss1923607061 Feb 12, 2016 (147)
52 ILLUMINA ss1946121571 Feb 12, 2016 (147)
53 ILLUMINA ss1958701875 Feb 12, 2016 (147)
54 JJLAB ss2022388527 Sep 14, 2016 (149)
55 USC_VALOUEV ss2150517883 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2264758673 Dec 20, 2016 (150)
57 ILLUMINA ss2634146065 Nov 08, 2017 (151)
58 ILLUMINA ss2634146066 Nov 08, 2017 (151)
59 GNOMAD ss2811948757 Nov 08, 2017 (151)
60 AFFY ss2985297491 Nov 08, 2017 (151)
61 AFFY ss2985921553 Nov 08, 2017 (151)
62 SWEGEN ss2995081181 Nov 08, 2017 (151)
63 ILLUMINA ss3022392896 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3024970372 Nov 08, 2017 (151)
65 CSHL ss3345827052 Nov 08, 2017 (151)
66 ILLUMINA ss3625848023 Oct 12, 2018 (152)
67 ILLUMINA ss3629010823 Oct 12, 2018 (152)
68 ILLUMINA ss3632080851 Oct 12, 2018 (152)
69 ILLUMINA ss3638497912 Oct 12, 2018 (152)
70 ILLUMINA ss3639251403 Oct 12, 2018 (152)
71 ILLUMINA ss3639647006 Oct 12, 2018 (152)
72 ILLUMINA ss3643448411 Oct 12, 2018 (152)
73 ILLUMINA ss3644854356 Oct 12, 2018 (152)
74 URBANLAB ss3647785921 Oct 12, 2018 (152)
75 ILLUMINA ss3652878893 Oct 12, 2018 (152)
76 ILLUMINA ss3654069147 Oct 12, 2018 (152)
77 EGCUT_WGS ss3662967654 Jul 13, 2019 (153)
78 EVA_DECODE ss3712503508 Jul 13, 2019 (153)
79 ILLUMINA ss3726150517 Jul 13, 2019 (153)
80 ACPOP ss3731353510 Jul 13, 2019 (153)
81 ILLUMINA ss3744237640 Jul 13, 2019 (153)
82 EVA ss3762076274 Jul 13, 2019 (153)
83 PAGE_CC ss3771138526 Jul 13, 2019 (153)
84 KHV_HUMAN_GENOMES ss3805222823 Jul 13, 2019 (153)
85 EVA ss3825660818 Apr 26, 2020 (154)
86 EVA ss3828664071 Apr 26, 2020 (154)
87 EVA ss3837773795 Apr 26, 2020 (154)
88 EVA ss3843211758 Apr 26, 2020 (154)
89 HGDP ss3847756732 Apr 26, 2020 (154)
90 SGDP_PRJ ss3859446853 Apr 26, 2020 (154)
91 EVA ss3984531230 Apr 26, 2021 (155)
92 EVA ss3985081569 Apr 26, 2021 (155)
93 TOPMED ss4621842251 Apr 26, 2021 (155)
94 TOMMO_GENOMICS ss5166736619 Apr 26, 2021 (155)
95 1000G_HIGH_COVERAGE ss5260013282 Oct 13, 2022 (156)
96 HUGCELL_USP ss5458685219 Oct 13, 2022 (156)
97 1000G_HIGH_COVERAGE ss5541524068 Oct 13, 2022 (156)
98 SANFORD_IMAGENETICS ss5635507161 Oct 13, 2022 (156)
99 TOMMO_GENOMICS ss5701370404 Oct 13, 2022 (156)
100 EVA ss5844314224 Oct 13, 2022 (156)
101 EVA ss5848017146 Oct 13, 2022 (156)
102 EVA ss5864365779 Oct 13, 2022 (156)
103 EVA ss5963890902 Oct 13, 2022 (156)
104 1000Genomes NC_000004.11 - 88998083 Oct 12, 2018 (152)
105 1000Genomes_30x NC_000004.12 - 88076931 Oct 13, 2022 (156)
106 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 88998083 Oct 12, 2018 (152)
107 Genome-wide autozygosity in Daghestan NC_000004.10 - 89217107 Apr 26, 2020 (154)
108 Genetic variation in the Estonian population NC_000004.11 - 88998083 Oct 12, 2018 (152)
109 The Danish reference pan genome NC_000004.11 - 88998083 Apr 26, 2020 (154)
110 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 156506270 (NC_000004.12:88076930:G:A 35112/140026)
Row 156506271 (NC_000004.12:88076930:G:T 1/140062)

- Apr 26, 2021 (155)
111 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 156506270 (NC_000004.12:88076930:G:A 35112/140026)
Row 156506271 (NC_000004.12:88076930:G:T 1/140062)

- Apr 26, 2021 (155)
112 Genome of the Netherlands Release 5 NC_000004.11 - 88998083 Apr 26, 2020 (154)
113 HGDP-CEPH-db Supplement 1 NC_000004.10 - 89217107 Apr 26, 2020 (154)
114 HapMap NC_000004.12 - 88076931 Apr 26, 2020 (154)
115 Northern Sweden NC_000004.11 - 88998083 Jul 13, 2019 (153)
116 The PAGE Study NC_000004.12 - 88076931 Jul 13, 2019 (153)
117 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000004.11 - 88998083 Apr 26, 2021 (155)
118 CNV burdens in cranial meningiomas NC_000004.11 - 88998083 Apr 26, 2021 (155)
119 Qatari NC_000004.11 - 88998083 Apr 26, 2020 (154)
120 SGDP_PRJ NC_000004.11 - 88998083 Apr 26, 2020 (154)
121 Siberian NC_000004.11 - 88998083 Apr 26, 2020 (154)
122 8.3KJPN NC_000004.11 - 88998083 Apr 26, 2021 (155)
123 14KJPN NC_000004.12 - 88076931 Oct 13, 2022 (156)
124 TopMed NC_000004.12 - 88076931 Apr 26, 2021 (155)
125 UK 10K study - Twins NC_000004.11 - 88998083 Oct 12, 2018 (152)
126 ALFA NC_000004.12 - 88076931 Apr 26, 2021 (155)
127 ClinVar RCV000346249.3 Oct 13, 2022 (156)
Help

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

Associated ID History Updated (Build)
rs1131409 Jan 18, 2001 (92)
rs3191319 Jul 03, 2002 (106)
rs56767930 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639251403, ss3639647006 NC_000004.9:89355261:G:A NC_000004.12:88076930:G:A (self)
356870, 434624, ss108119881, ss117084134, ss162326857, ss166867956, ss206432259, ss253321665, ss284954151, ss293121876, ss484879789, ss825355679, ss1397381442, ss1589864623, ss1712688192, ss3643448411, ss3847756732 NC_000004.10:89217106:G:A NC_000004.12:88076930:G:A (self)
22096246, 12290033, 8705902, 6820668, 5427907, 4638375, 307496, 80590, 5648991, 11463833, 3034237, 24705926, 12290033, ss221056620, ss232485291, ss482380970, ss534624135, ss779491488, ss781742443, ss832668750, ss834961617, ss980362501, ss1071723776, ss1310666284, ss1429958873, ss1580655729, ss1610569793, ss1653563826, ss1923607061, ss1946121571, ss1958701875, ss2022388527, ss2150517883, ss2634146065, ss2634146066, ss2811948757, ss2985297491, ss2985921553, ss2995081181, ss3022392896, ss3345827052, ss3625848023, ss3629010823, ss3632080851, ss3638497912, ss3644854356, ss3652878893, ss3654069147, ss3662967654, ss3731353510, ss3744237640, ss3762076274, ss3825660818, ss3828664071, ss3837773795, ss3859446853, ss3984531230, ss3985081569, ss5166736619, ss5635507161, ss5844314224, ss5848017146, ss5963890902 NC_000004.11:88998082:G:A NC_000004.12:88076930:G:A (self)
RCV000346249.3, 29050003, 2656594, 359995, 35207508, 459219807, 2045352730, ss2264758673, ss3024970372, ss3647785921, ss3712503508, ss3726150517, ss3771138526, ss3805222823, ss3843211758, ss4621842251, ss5260013282, ss5458685219, ss5541524068, ss5701370404, ss5864365779 NC_000004.12:88076930:G:A NC_000004.12:88076930:G:A (self)
ss22167447 NT_016354.16:13492787:G:A NC_000004.12:88076930:G:A (self)
ss13143, ss1526054, ss4416514, ss16230804, ss44534948, ss66667440, ss66913202, ss67047890, ss68904392, ss70386246, ss70510840, ss71038177, ss75569340, ss83349722, ss98979560, ss121426350, ss133409252, ss152891446, ss159156142, ss169736554, ss170880737 NT_016354.19:13545803:G:A NC_000004.12:88076930:G:A (self)
2045352730 NC_000004.12:88076930:G:T NC_000004.12:88076930:G: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 rs10965

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