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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.

rs1234694

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:9943262 (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=0.362322 (95903/264690, TOPMED)
G=0.198142 (30666/154768, ALFA)
G=0.351128 (49186/140080, GnomAD) (+ 18 more)
G=0.33254 (9395/28252, 14KJPN)
G=0.32995 (5528/16754, 8.3KJPN)
G=0.4711 (3017/6404, 1000G_30x)
G=0.4659 (2333/5008, 1000G)
G=0.1868 (837/4480, Estonian)
G=0.1609 (620/3854, ALSPAC)
G=0.1481 (549/3708, TWINSUK)
G=0.3770 (1104/2928, KOREAN)
A=0.4803 (904/1882, HapMap)
G=0.3701 (678/1832, Korea1K)
G=0.155 (155/998, GoNL)
G=0.182 (109/600, NorthernSweden)
G=0.264 (115/436, SGDP_PRJ)
G=0.324 (70/216, Qatari)
G=0.349 (74/212, Vietnamese)
G=0.12 (10/84, Ancient Sardinia)
G=0.30 (13/44, Siberian)
G=0.23 (9/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LZIC : Intron Variant
NMNAT1 : 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 154862 G=0.198164 A=0.801836, C=0.000000
European Sub 129880 G=0.157553 A=0.842447, C=0.000000
African Sub 7522 G=0.7320 A=0.2680, C=0.0000
African Others Sub 254 G=0.894 A=0.106, C=0.000
African American Sub 7268 G=0.7263 A=0.2737, C=0.0000
Asian Sub 676 G=0.365 A=0.635, C=0.000
East Asian Sub 512 G=0.361 A=0.639, C=0.000
Other Asian Sub 164 G=0.378 A=0.622, C=0.000
Latin American 1 Sub 894 G=0.330 A=0.670, C=0.000
Latin American 2 Sub 8452 G=0.2674 A=0.7326, C=0.0000
South Asian Sub 196 G=0.485 A=0.515, C=0.000
Other Sub 7242 G=0.2516 A=0.7484, C=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=0.362322 A=0.637678
Allele Frequency Aggregator Total Global 154768 G=0.198142 A=0.801858, C=0.000000
Allele Frequency Aggregator European Sub 129804 G=0.157507 A=0.842493, C=0.000000
Allele Frequency Aggregator Latin American 2 Sub 8452 G=0.2674 A=0.7326, C=0.0000
Allele Frequency Aggregator African Sub 7522 G=0.7320 A=0.2680, C=0.0000
Allele Frequency Aggregator Other Sub 7224 G=0.2517 A=0.7483, C=0.0000
Allele Frequency Aggregator Latin American 1 Sub 894 G=0.330 A=0.670, C=0.000
Allele Frequency Aggregator Asian Sub 676 G=0.365 A=0.635, C=0.000
Allele Frequency Aggregator South Asian Sub 196 G=0.485 A=0.515, C=0.000
gnomAD - Genomes Global Study-wide 140080 G=0.351128 A=0.648872
gnomAD - Genomes European Sub 75870 G=0.17071 A=0.82929
gnomAD - Genomes African Sub 41996 G=0.72024 A=0.27976
gnomAD - Genomes American Sub 13632 G=0.24758 A=0.75242
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.2175 A=0.7825
gnomAD - Genomes East Asian Sub 3116 G=0.3829 A=0.6171
gnomAD - Genomes Other Sub 2142 G=0.3249 A=0.6751
14KJPN JAPANESE Study-wide 28252 G=0.33254 A=0.66746
8.3KJPN JAPANESE Study-wide 16754 G=0.32995 A=0.67005
1000Genomes_30x Global Study-wide 6404 G=0.4711 A=0.5289
1000Genomes_30x African Sub 1786 G=0.8320 A=0.1680
1000Genomes_30x Europe Sub 1266 G=0.1651 A=0.8349
1000Genomes_30x South Asian Sub 1202 G=0.4626 A=0.5374
1000Genomes_30x East Asian Sub 1170 G=0.3991 A=0.6009
1000Genomes_30x American Sub 980 G=0.305 A=0.695
1000Genomes Global Study-wide 5008 G=0.4659 A=0.5341
1000Genomes African Sub 1322 G=0.8313 A=0.1687
1000Genomes East Asian Sub 1008 G=0.3899 A=0.6101
1000Genomes Europe Sub 1006 G=0.1740 A=0.8260
1000Genomes South Asian Sub 978 G=0.459 A=0.541
1000Genomes American Sub 694 G=0.313 A=0.687
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.1868 A=0.8132
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.1609 A=0.8391
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.1481 A=0.8519
KOREAN population from KRGDB KOREAN Study-wide 2928 G=0.3770 A=0.6230, C=0.0000
HapMap Global Study-wide 1882 G=0.5197 A=0.4803
HapMap American Sub 768 G=0.349 A=0.651
HapMap African Sub 684 G=0.857 A=0.143
HapMap Asian Sub 254 G=0.335 A=0.665
HapMap Europe Sub 176 G=0.222 A=0.778
Korean Genome Project KOREAN Study-wide 1832 G=0.3701 A=0.6299
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.155 A=0.845
Northern Sweden ACPOP Study-wide 600 G=0.182 A=0.818
SGDP_PRJ Global Study-wide 436 G=0.264 A=0.736
Qatari Global Study-wide 216 G=0.324 A=0.676
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.349 A=0.651
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 84 G=0.12 A=0.88
Siberian Global Study-wide 44 G=0.30 A=0.70
The Danish reference pan genome Danish Study-wide 40 G=0.23 A=0.78
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.9943262G>A
GRCh38.p14 chr 1 NC_000001.11:g.9943262G>C
GRCh37.p13 chr 1 NC_000001.10:g.10003320G>A
GRCh37.p13 chr 1 NC_000001.10:g.10003320G>C
NMNAT1 RefSeqGene NG_032954.1:g.4835G>A
NMNAT1 RefSeqGene NG_032954.1:g.4835G>C
LOC126805613 genomic region NG_081937.1:g.839G>A
LOC126805613 genomic region NG_081937.1:g.839G>C
Gene: NMNAT1, nicotinamide nucleotide adenylyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NMNAT1 transcript variant 2 NM_001297778.1:c.-57+237G…

NM_001297778.1:c.-57+237G>A

N/A Intron Variant
NMNAT1 transcript variant 3 NM_001297779.2:c. N/A Genic Upstream Transcript Variant
NMNAT1 transcript variant 1 NM_022787.4:c. N/A Genic Upstream Transcript Variant
NMNAT1 transcript variant X3 XM_047428077.1:c.-57+237G…

XM_047428077.1:c.-57+237G>A

N/A Intron Variant
NMNAT1 transcript variant X7 XM_011541971.2:c. N/A Genic Upstream Transcript Variant
NMNAT1 transcript variant X2 XM_017002107.3:c. N/A Genic Upstream Transcript Variant
NMNAT1 transcript variant X6 XM_017002108.3:c. N/A Genic Upstream Transcript Variant
NMNAT1 transcript variant X1 XM_047428076.1:c. N/A Genic Upstream Transcript Variant
NMNAT1 transcript variant X4 XM_047428080.1:c. N/A Genic Upstream Transcript Variant
NMNAT1 transcript variant X5 XM_047428082.1:c. N/A Genic Upstream Transcript Variant
Gene: LZIC, leucine zipper and CTNNBIP1 domain containing (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LZIC transcript variant 2 NM_001316973.2:c.-168+87C…

NM_001316973.2:c.-168+87C>T

N/A Intron Variant
LZIC transcript variant 3 NM_001316974.2:c.-48+87C>T N/A Intron Variant
LZIC transcript variant 4 NM_001316975.2:c.-168+87C…

NM_001316975.2:c.-168+87C>T

N/A Intron Variant
LZIC transcript variant 5 NM_001316976.2:c.-168+87C…

NM_001316976.2:c.-168+87C>T

N/A Intron Variant
LZIC transcript variant 1 NM_032368.5:c.-181= N/A 5 Prime UTR Variant
LZIC transcript variant X3 XM_017002546.2:c.-168+87C…

XM_017002546.2:c.-168+87C>T

N/A Intron Variant
LZIC transcript variant X1 XM_005263506.3:c.-181= N/A 5 Prime UTR Variant
LZIC transcript variant X2 XM_017002547.2:c.-181= N/A 5 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.

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 1 NC_000001.11:g.9943262= NC_000001.11:g.9943262G>A NC_000001.11:g.9943262G>C
GRCh37.p13 chr 1 NC_000001.10:g.10003320= NC_000001.10:g.10003320G>A NC_000001.10:g.10003320G>C
NMNAT1 RefSeqGene NG_032954.1:g.4835= NG_032954.1:g.4835G>A NG_032954.1:g.4835G>C
LOC126805613 genomic region NG_081937.1:g.839= NG_081937.1:g.839G>A NG_081937.1:g.839G>C
LZIC transcript variant 1 NM_032368.5:c.-181= NM_032368.5:c.-181C>T NM_032368.5:c.-181C>G
LZIC transcript variant 1 NM_032368.4:c.-181= NM_032368.4:c.-181C>T NM_032368.4:c.-181C>G
LZIC transcript variant X1 XM_005263506.3:c.-181= XM_005263506.3:c.-181C>T XM_005263506.3:c.-181C>G
LZIC transcript variant X1 XM_005263506.2:c.-181= XM_005263506.2:c.-181C>T XM_005263506.2:c.-181C>G
LZIC transcript variant X1 XM_005263506.1:c.-181= XM_005263506.1:c.-181C>T XM_005263506.1:c.-181C>G
LZIC transcript variant X2 XM_017002547.2:c.-181= XM_017002547.2:c.-181C>T XM_017002547.2:c.-181C>G
LZIC transcript variant X3 XM_017002547.1:c.-181= XM_017002547.1:c.-181C>T XM_017002547.1:c.-181C>G
NMNAT1 transcript variant 2 NM_001297778.1:c.-57+237= NM_001297778.1:c.-57+237G>A NM_001297778.1:c.-57+237G>C
LZIC transcript variant 2 NM_001316973.2:c.-168+87= NM_001316973.2:c.-168+87C>T NM_001316973.2:c.-168+87C>G
LZIC transcript variant 3 NM_001316974.2:c.-48+87= NM_001316974.2:c.-48+87C>T NM_001316974.2:c.-48+87C>G
LZIC transcript variant 4 NM_001316975.2:c.-168+87= NM_001316975.2:c.-168+87C>T NM_001316975.2:c.-168+87C>G
LZIC transcript variant 5 NM_001316976.2:c.-168+87= NM_001316976.2:c.-168+87C>T NM_001316976.2:c.-168+87C>G
LZIC transcript variant X1 XM_005263504.1:c.-48+87= XM_005263504.1:c.-48+87C>T XM_005263504.1:c.-48+87C>G
LZIC transcript variant X2 XM_005263505.1:c.-168+87= XM_005263505.1:c.-168+87C>T XM_005263505.1:c.-168+87C>G
LZIC transcript variant X4 XM_005263507.1:c.-168+87= XM_005263507.1:c.-168+87C>T XM_005263507.1:c.-168+87C>G
LZIC transcript variant X7 XM_005263510.1:c.-168+87= XM_005263510.1:c.-168+87C>T XM_005263510.1:c.-168+87C>G
LZIC transcript variant X3 XM_017002546.2:c.-168+87= XM_017002546.2:c.-168+87C>T XM_017002546.2:c.-168+87C>G
NMNAT1 transcript variant X3 XM_047428077.1:c.-57+237= XM_047428077.1:c.-57+237G>A XM_047428077.1:c.-57+237G>C
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#.

117 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss1848098 Oct 18, 2000 (87)
2 SC_JCM ss2624769 Nov 08, 2000 (89)
3 YUSUKE ss3242455 Sep 28, 2001 (100)
4 CSHL-HAPMAP ss16384672 Feb 27, 2004 (120)
5 SSAHASNP ss20434399 Apr 05, 2004 (121)
6 PERLEGEN ss23841180 Sep 20, 2004 (123)
7 ABI ss43844356 Mar 15, 2006 (126)
8 ILLUMINA ss65740675 Oct 15, 2006 (127)
9 KRIBB_YJKIM ss65837011 Nov 30, 2006 (127)
10 ILLUMINA ss74859390 Dec 06, 2007 (129)
11 AFFY ss76847825 Dec 08, 2007 (130)
12 HGSV ss85769691 Dec 15, 2007 (130)
13 BCMHGSC_JDW ss87213027 Mar 23, 2008 (129)
14 HUMANGENOME_JCVI ss97918873 Feb 06, 2009 (130)
15 BGI ss102718691 Dec 01, 2009 (131)
16 1000GENOMES ss107985781 Jan 22, 2009 (130)
17 KRIBB_YJKIM ss119385960 Dec 01, 2009 (131)
18 ENSEMBL ss138843235 Dec 01, 2009 (131)
19 GMI ss154625382 Dec 01, 2009 (131)
20 ILLUMINA ss160052302 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss163815213 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss166086092 Jul 04, 2010 (132)
23 ILLUMINA ss172022221 Jul 04, 2010 (132)
24 BCM-HGSC-SUB ss205261056 Jul 04, 2010 (132)
25 1000GENOMES ss218231692 Jul 14, 2010 (132)
26 1000GENOMES ss230423115 Jul 14, 2010 (132)
27 1000GENOMES ss238138916 Jul 15, 2010 (132)
28 ILLUMINA ss244276129 Jul 04, 2010 (132)
29 BL ss252910473 May 09, 2011 (134)
30 GMI ss275710455 May 04, 2012 (137)
31 GMI ss283999668 Apr 25, 2013 (138)
32 PJP ss290573992 May 09, 2011 (134)
33 ILLUMINA ss479720785 May 04, 2012 (137)
34 ILLUMINA ss479726627 May 04, 2012 (137)
35 ILLUMINA ss480274729 Sep 08, 2015 (146)
36 ILLUMINA ss484658770 May 04, 2012 (137)
37 ILLUMINA ss536774559 Sep 08, 2015 (146)
38 TISHKOFF ss553785250 Apr 25, 2013 (138)
39 SSMP ss647568881 Apr 25, 2013 (138)
40 ILLUMINA ss778779553 Sep 08, 2015 (146)
41 ILLUMINA ss782776245 Sep 08, 2015 (146)
42 ILLUMINA ss783742286 Sep 08, 2015 (146)
43 ILLUMINA ss832028763 Sep 08, 2015 (146)
44 ILLUMINA ss834239482 Sep 08, 2015 (146)
45 EVA-GONL ss974846444 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1067663398 Aug 21, 2014 (142)
47 1000GENOMES ss1289646100 Aug 21, 2014 (142)
48 DDI ss1425709505 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1573882724 Apr 01, 2015 (144)
50 EVA_DECODE ss1584204599 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1599529183 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1642523216 Apr 01, 2015 (144)
53 EVA_SVP ss1712310528 Apr 01, 2015 (144)
54 ILLUMINA ss1751859106 Sep 08, 2015 (146)
55 HAMMER_LAB ss1793888973 Sep 08, 2015 (146)
56 WEILL_CORNELL_DGM ss1918045330 Feb 12, 2016 (147)
57 GENOMED ss1966682804 Jul 19, 2016 (147)
58 JJLAB ss2019537086 Sep 14, 2016 (149)
59 USC_VALOUEV ss2147533439 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2159971307 Dec 20, 2016 (150)
61 SYSTEMSBIOZJU ss2624284903 Nov 08, 2017 (151)
62 ILLUMINA ss2632476065 Nov 08, 2017 (151)
63 GRF ss2697429885 Nov 08, 2017 (151)
64 GNOMAD ss2751516149 Nov 08, 2017 (151)
65 AFFY ss2984844712 Nov 08, 2017 (151)
66 AFFY ss2985498629 Nov 08, 2017 (151)
67 SWEGEN ss2986281124 Nov 08, 2017 (151)
68 ILLUMINA ss3021053034 Nov 08, 2017 (151)
69 CSHL ss3343313278 Nov 08, 2017 (151)
70 ILLUMINA ss3626023888 Oct 11, 2018 (152)
71 ILLUMINA ss3630514811 Oct 11, 2018 (152)
72 ILLUMINA ss3632880462 Oct 11, 2018 (152)
73 ILLUMINA ss3633574259 Oct 11, 2018 (152)
74 ILLUMINA ss3634306241 Oct 11, 2018 (152)
75 ILLUMINA ss3635268392 Oct 11, 2018 (152)
76 ILLUMINA ss3635982470 Oct 11, 2018 (152)
77 ILLUMINA ss3637018757 Oct 11, 2018 (152)
78 ILLUMINA ss3637736711 Oct 11, 2018 (152)
79 ILLUMINA ss3640013605 Oct 11, 2018 (152)
80 ILLUMINA ss3642750616 Oct 11, 2018 (152)
81 URBANLAB ss3646597990 Oct 11, 2018 (152)
82 ILLUMINA ss3651376935 Oct 11, 2018 (152)
83 ILLUMINA ss3653618299 Oct 11, 2018 (152)
84 EGCUT_WGS ss3654381007 Jul 12, 2019 (153)
85 EVA_DECODE ss3686145301 Jul 12, 2019 (153)
86 ILLUMINA ss3724995335 Jul 12, 2019 (153)
87 ACPOP ss3726782344 Jul 12, 2019 (153)
88 ILLUMINA ss3744607223 Jul 12, 2019 (153)
89 EVA ss3745818034 Jul 12, 2019 (153)
90 ILLUMINA ss3772108844 Jul 12, 2019 (153)
91 PACBIO ss3783322394 Jul 12, 2019 (153)
92 PACBIO ss3788997502 Jul 12, 2019 (153)
93 PACBIO ss3793870247 Jul 12, 2019 (153)
94 KHV_HUMAN_GENOMES ss3798838317 Jul 12, 2019 (153)
95 EVA ss3826019295 Apr 25, 2020 (154)
96 EVA ss3836396792 Apr 25, 2020 (154)
97 EVA ss3841801280 Apr 25, 2020 (154)
98 SGDP_PRJ ss3848174954 Apr 25, 2020 (154)
99 KRGDB ss3893052644 Apr 25, 2020 (154)
100 KOGIC ss3943802191 Apr 25, 2020 (154)
101 EVA ss3984778047 Apr 25, 2021 (155)
102 TOPMED ss4438912272 Apr 25, 2021 (155)
103 TOMMO_GENOMICS ss5142430276 Apr 25, 2021 (155)
104 1000G_HIGH_COVERAGE ss5241142891 Oct 12, 2022 (156)
105 EVA ss5314592294 Oct 12, 2022 (156)
106 EVA ss5316692206 Oct 12, 2022 (156)
107 HUGCELL_USP ss5442349980 Oct 12, 2022 (156)
108 EVA ss5505763897 Oct 12, 2022 (156)
109 1000G_HIGH_COVERAGE ss5512886604 Oct 12, 2022 (156)
110 SANFORD_IMAGENETICS ss5624907208 Oct 12, 2022 (156)
111 TOMMO_GENOMICS ss5666717653 Oct 12, 2022 (156)
112 EVA ss5799474784 Oct 12, 2022 (156)
113 YY_MCH ss5800314910 Oct 12, 2022 (156)
114 EVA ss5831527363 Oct 12, 2022 (156)
115 EVA ss5848780032 Oct 12, 2022 (156)
116 EVA ss5907007559 Oct 12, 2022 (156)
117 EVA ss5936733750 Oct 12, 2022 (156)
118 1000Genomes NC_000001.10 - 10003320 Oct 11, 2018 (152)
119 1000Genomes_30x NC_000001.11 - 9943262 Oct 12, 2022 (156)
120 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 10003320 Oct 11, 2018 (152)
121 Genetic variation in the Estonian population NC_000001.10 - 10003320 Oct 11, 2018 (152)
122 The Danish reference pan genome NC_000001.10 - 10003320 Apr 25, 2020 (154)
123 gnomAD - Genomes NC_000001.11 - 9943262 Apr 25, 2021 (155)
124 Genome of the Netherlands Release 5 NC_000001.10 - 10003320 Apr 25, 2020 (154)
125 HapMap NC_000001.11 - 9943262 Apr 25, 2020 (154)
126 KOREAN population from KRGDB NC_000001.10 - 10003320 Apr 25, 2020 (154)
127 Korean Genome Project NC_000001.11 - 9943262 Apr 25, 2020 (154)
128 Northern Sweden NC_000001.10 - 10003320 Jul 12, 2019 (153)
129 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 10003320 Apr 25, 2021 (155)
130 Qatari NC_000001.10 - 10003320 Apr 25, 2020 (154)
131 SGDP_PRJ NC_000001.10 - 10003320 Apr 25, 2020 (154)
132 Siberian NC_000001.10 - 10003320 Apr 25, 2020 (154)
133 8.3KJPN NC_000001.10 - 10003320 Apr 25, 2021 (155)
134 14KJPN NC_000001.11 - 9943262 Oct 12, 2022 (156)
135 TopMed NC_000001.11 - 9943262 Apr 25, 2021 (155)
136 UK 10K study - Twins NC_000001.10 - 10003320 Oct 11, 2018 (152)
137 A Vietnamese Genetic Variation Database NC_000001.10 - 10003320 Jul 12, 2019 (153)
138 ALFA NC_000001.11 - 9943262 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)
rs56612707 May 26, 2008 (130)
rs60650261 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85769691 NC_000001.8:9937585:G:A NC_000001.11:9943261:G:A (self)
ss87213027, ss107985781, ss163815213, ss166086092, ss205261056, ss252910473, ss275710455, ss283999668, ss290573992, ss479720785, ss1584204599, ss1712310528, ss3642750616 NC_000001.9:9925906:G:A NC_000001.11:9943261:G:A (self)
320876, 165528, 119255, 1386428, 71032, 230038, 67209, 3974, 87260, 191934, 49793, 399583, 165528, 34897, ss218231692, ss230423115, ss238138916, ss479726627, ss480274729, ss484658770, ss536774559, ss553785250, ss647568881, ss778779553, ss782776245, ss783742286, ss832028763, ss834239482, ss974846444, ss1067663398, ss1289646100, ss1425709505, ss1573882724, ss1599529183, ss1642523216, ss1751859106, ss1793888973, ss1918045330, ss1966682804, ss2019537086, ss2147533439, ss2624284903, ss2632476065, ss2697429885, ss2751516149, ss2984844712, ss2985498629, ss2986281124, ss3021053034, ss3343313278, ss3626023888, ss3630514811, ss3632880462, ss3633574259, ss3634306241, ss3635268392, ss3635982470, ss3637018757, ss3637736711, ss3640013605, ss3651376935, ss3653618299, ss3654381007, ss3726782344, ss3744607223, ss3745818034, ss3772108844, ss3783322394, ss3788997502, ss3793870247, ss3826019295, ss3836396792, ss3848174954, ss3893052644, ss3984778047, ss5142430276, ss5314592294, ss5316692206, ss5505763897, ss5624907208, ss5799474784, ss5831527363, ss5936733750 NC_000001.10:10003319:G:A NC_000001.11:9943261:G:A (self)
412539, 2231584, 12017, 180192, 554757, 2518607, 8963482067, ss2159971307, ss3646597990, ss3686145301, ss3724995335, ss3798838317, ss3841801280, ss3943802191, ss4438912272, ss5241142891, ss5442349980, ss5512886604, ss5666717653, ss5800314910, ss5848780032, ss5907007559 NC_000001.11:9943261:G:A NC_000001.11:9943261:G:A (self)
ss16384672, ss20434399 NT_021937.16:4130378:G:A NC_000001.11:9943261:G:A (self)
ss1848098, ss2624769, ss3242455, ss23841180, ss43844356, ss65740675, ss65837011, ss74859390, ss76847825, ss97918873, ss102718691, ss119385960, ss138843235, ss154625382, ss160052302, ss172022221, ss244276129 NT_021937.19:6008051:G:A NC_000001.11:9943261:G:A (self)
230038, ss3893052644 NC_000001.10:10003319:G:C NC_000001.11:9943261:G:C (self)
8963482067 NC_000001.11:9943261:G:C NC_000001.11:9943261: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 rs1234694

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