Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs703468

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:54974418 (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
A=0.231924 (61388/264690, TOPMED)
A=0.225528 (31564/139956, GnomAD)
A=0.43450 (12278/28258, 14KJPN) (+ 16 more)
A=0.22922 (4347/18964, ALFA)
A=0.43168 (7235/16760, 8.3KJPN)
A=0.2422 (1551/6404, 1000G_30x)
A=0.2404 (1204/5008, 1000G)
A=0.2446 (1096/4480, Estonian)
A=0.2091 (806/3854, ALSPAC)
A=0.2055 (762/3708, TWINSUK)
A=0.3850 (1128/2930, KOREAN)
A=0.199 (199/998, GoNL)
A=0.240 (144/600, NorthernSweden)
A=0.169 (90/534, MGP)
A=0.259 (56/216, Qatari)
A=0.329 (71/216, Vietnamese)
G=0.443 (94/212, SGDP_PRJ)
A=0.15 (6/40, GENOME_DK)
G=0.33 (8/24, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NLRP2 : Intron Variant
Publications
1 citation
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 18964 G=0.77078 A=0.22922
European Sub 14336 G=0.77281 A=0.22719
African Sub 2960 G=0.7595 A=0.2405
African Others Sub 114 G=0.781 A=0.219
African American Sub 2846 G=0.7586 A=0.2414
Asian Sub 112 G=0.679 A=0.321
East Asian Sub 86 G=0.69 A=0.31
Other Asian Sub 26 G=0.65 A=0.35
Latin American 1 Sub 146 G=0.767 A=0.233
Latin American 2 Sub 610 G=0.789 A=0.211
South Asian Sub 98 G=0.79 A=0.21
Other Sub 702 G=0.775 A=0.225


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=0.768076 A=0.231924
gnomAD - Genomes Global Study-wide 139956 G=0.774472 A=0.225528
gnomAD - Genomes European Sub 75818 G=0.78566 A=0.21434
gnomAD - Genomes African Sub 41958 G=0.76393 A=0.23607
gnomAD - Genomes American Sub 13592 G=0.77884 A=0.22116
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.7793 A=0.2207
gnomAD - Genomes East Asian Sub 3118 G=0.6132 A=0.3868
gnomAD - Genomes Other Sub 2148 G=0.7845 A=0.2155
14KJPN JAPANESE Study-wide 28258 G=0.56550 A=0.43450
Allele Frequency Aggregator Total Global 18964 G=0.77078 A=0.22922
Allele Frequency Aggregator European Sub 14336 G=0.77281 A=0.22719
Allele Frequency Aggregator African Sub 2960 G=0.7595 A=0.2405
Allele Frequency Aggregator Other Sub 702 G=0.775 A=0.225
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.789 A=0.211
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.767 A=0.233
Allele Frequency Aggregator Asian Sub 112 G=0.679 A=0.321
Allele Frequency Aggregator South Asian Sub 98 G=0.79 A=0.21
8.3KJPN JAPANESE Study-wide 16760 G=0.56832 A=0.43168
1000Genomes_30x Global Study-wide 6404 G=0.7578 A=0.2422
1000Genomes_30x African Sub 1786 G=0.7660 A=0.2340
1000Genomes_30x Europe Sub 1266 G=0.7899 A=0.2101
1000Genomes_30x South Asian Sub 1202 G=0.8020 A=0.1980
1000Genomes_30x East Asian Sub 1170 G=0.6342 A=0.3658
1000Genomes_30x American Sub 980 G=0.795 A=0.205
1000Genomes Global Study-wide 5008 G=0.7596 A=0.2404
1000Genomes African Sub 1322 G=0.7670 A=0.2330
1000Genomes East Asian Sub 1008 G=0.6458 A=0.3542
1000Genomes Europe Sub 1006 G=0.7893 A=0.2107
1000Genomes South Asian Sub 978 G=0.805 A=0.195
1000Genomes American Sub 694 G=0.804 A=0.196
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7554 A=0.2446
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7909 A=0.2091
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7945 A=0.2055
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6150 A=0.3850, C=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.801 A=0.199
Northern Sweden ACPOP Study-wide 600 G=0.760 A=0.240
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.831 A=0.169
Qatari Global Study-wide 216 G=0.741 A=0.259
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.671 A=0.329
SGDP_PRJ Global Study-wide 212 G=0.443 A=0.557
The Danish reference pan genome Danish Study-wide 40 G=0.85 A=0.15
Siberian Global Study-wide 24 G=0.33 A=0.67
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 19 NC_000019.10:g.54974418G>A
GRCh38.p14 chr 19 NC_000019.10:g.54974418G>C
GRCh37.p13 chr 19 NC_000019.9:g.55485786G>A
GRCh37.p13 chr 19 NC_000019.9:g.55485786G>C
NLRP2 RefSeqGene NG_052633.1:g.26289G>A
NLRP2 RefSeqGene NG_052633.1:g.26289G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.686579G>A
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.686579G>C
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.686578G>A
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.686578G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.892783G>A
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.892783G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.956490G>A
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.956490G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.981941G>A
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.981941G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.954404G>A
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.954404G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.619620G>A
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.619620G>C
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.619619G>A
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.619619G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.877816G>A
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.877816G>C
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.956900G>A
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.956900G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.877173G>A
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.877173G>C
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.948786G>A
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.948786G>C
Gene: NLRP2, NLR family pyrin domain containing 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NLRP2 transcript variant 2 NM_001174081.3:c.281-82G>A N/A Intron Variant
NLRP2 transcript variant 3 NM_001174082.3:c.281-82G>A N/A Intron Variant
NLRP2 transcript variant 4 NM_001174083.2:c.212-82G>A N/A Intron Variant
NLRP2 transcript variant 5 NM_001348003.2:c.281-82G>A N/A Intron Variant
NLRP2 transcript variant 1 NM_017852.5:c.281-82G>A N/A Intron Variant
NLRP2 transcript variant 6 NR_145325.2:n. 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 G= A C
GRCh38.p14 chr 19 NC_000019.10:g.54974418= NC_000019.10:g.54974418G>A NC_000019.10:g.54974418G>C
GRCh37.p13 chr 19 NC_000019.9:g.55485786= NC_000019.9:g.55485786G>A NC_000019.9:g.55485786G>C
NLRP2 RefSeqGene NG_052633.1:g.26289= NG_052633.1:g.26289G>A NG_052633.1:g.26289G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.686579= NW_003571061.2:g.686579G>A NW_003571061.2:g.686579G>C
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.686578= NW_003571061.1:g.686578G>A NW_003571061.1:g.686578G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.892783= NW_003571059.2:g.892783G>A NW_003571059.2:g.892783G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.956490= NW_003571058.2:g.956490G>A NW_003571058.2:g.956490G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.981941= NW_003571057.2:g.981941G>A NW_003571057.2:g.981941G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.954404= NW_003571056.2:g.954404G>A NW_003571056.2:g.954404G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.619620= NW_003571055.2:g.619620G>A NW_003571055.2:g.619620G>C
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.619619= NW_003571055.1:g.619619G>A NW_003571055.1:g.619619G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.877816= NW_003571054.1:g.877816G>A NW_003571054.1:g.877816G>C
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.956900= NT_187693.1:g.956900G>A NT_187693.1:g.956900G>C
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.877173= NW_003571060.1:g.877173G>A NW_003571060.1:g.877173G>C
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.948786= NW_004166865.1:g.948786G>A NW_004166865.1:g.948786G>C
NLRP2 transcript variant 2 NM_001174081.1:c.281-82= NM_001174081.1:c.281-82G>A NM_001174081.1:c.281-82G>C
NLRP2 transcript variant 2 NM_001174081.3:c.281-82= NM_001174081.3:c.281-82G>A NM_001174081.3:c.281-82G>C
NLRP2 transcript variant 3 NM_001174082.1:c.281-82= NM_001174082.1:c.281-82G>A NM_001174082.1:c.281-82G>C
NLRP2 transcript variant 3 NM_001174082.3:c.281-82= NM_001174082.3:c.281-82G>A NM_001174082.3:c.281-82G>C
NLRP2 transcript variant 4 NM_001174083.1:c.212-82= NM_001174083.1:c.212-82G>A NM_001174083.1:c.212-82G>C
NLRP2 transcript variant 4 NM_001174083.2:c.212-82= NM_001174083.2:c.212-82G>A NM_001174083.2:c.212-82G>C
NLRP2 transcript variant 5 NM_001348003.2:c.281-82= NM_001348003.2:c.281-82G>A NM_001348003.2:c.281-82G>C
NLRP2 transcript variant 1 NM_017852.3:c.281-82= NM_017852.3:c.281-82G>A NM_017852.3:c.281-82G>C
NLRP2 transcript variant 1 NM_017852.5:c.281-82= NM_017852.5:c.281-82G>A NM_017852.5:c.281-82G>C
NLRP2 transcript variant X1 XM_005259050.1:c.281-82= XM_005259050.1:c.281-82G>A XM_005259050.1:c.281-82G>C
NLRP2 transcript variant X2 XM_005277121.1:c.281-82= XM_005277121.1:c.281-82G>A XM_005277121.1:c.281-82G>C
NLRP2 transcript variant X9 XM_005278284.1:c.281-82= XM_005278284.1:c.281-82G>A XM_005278284.1:c.281-82G>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#.

87 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss899537 Oct 04, 2000 (86)
2 KWOK ss900054 Oct 04, 2000 (86)
3 KWOK ss1917622 Oct 18, 2000 (87)
4 KWOK ss1917925 Oct 18, 2000 (87)
5 TSC-CSHL ss2167359 Oct 23, 2000 (88)
6 SC_JCM ss2497992 Nov 08, 2000 (89)
7 YUSUKE ss4990283 Aug 28, 2002 (108)
8 TSC-CSHL ss5500544 Oct 08, 2002 (108)
9 BCM_SSAHASNP ss10927443 Jul 11, 2003 (116)
10 WUGSC_SSAHASNP ss14429082 Dec 05, 2003 (119)
11 CSHL-HAPMAP ss16790197 Feb 27, 2004 (120)
12 SSAHASNP ss21542892 Apr 05, 2004 (121)
13 PERLEGEN ss24204805 Sep 20, 2004 (123)
14 ABI ss44181816 Mar 14, 2006 (126)
15 SI_EXO ss76892297 Dec 06, 2007 (129)
16 BCMHGSC_JDW ss91013200 Mar 24, 2008 (129)
17 1000GENOMES ss111537986 Jan 25, 2009 (130)
18 COMPLETE_GENOMICS ss168379311 Jul 04, 2010 (132)
19 BUSHMAN ss203794300 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss208420198 Jul 04, 2010 (132)
21 1000GENOMES ss228195594 Jul 14, 2010 (132)
22 1000GENOMES ss237719081 Jul 15, 2010 (132)
23 1000GENOMES ss243914852 Jul 15, 2010 (132)
24 GMI ss283257084 May 04, 2012 (137)
25 GMI ss287403014 Apr 25, 2013 (138)
26 TISHKOFF ss566062821 Apr 25, 2013 (138)
27 SSMP ss661932880 Apr 25, 2013 (138)
28 EVA-GONL ss994425614 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1081988877 Aug 21, 2014 (142)
30 1000GENOMES ss1363648749 Aug 21, 2014 (142)
31 DDI ss1428441502 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1578688859 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1638192443 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1681186476 Apr 01, 2015 (144)
35 EVA_DECODE ss1698479131 Apr 01, 2015 (144)
36 EVA_MGP ss1711527456 Apr 01, 2015 (144)
37 HAMMER_LAB ss1809368623 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1937931801 Feb 12, 2016 (147)
39 GENOMED ss1968666206 Jul 19, 2016 (147)
40 JJLAB ss2029740598 Sep 14, 2016 (149)
41 USC_VALOUEV ss2158293481 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2226608214 Dec 20, 2016 (150)
43 SYSTEMSBIOZJU ss2629367791 Nov 08, 2017 (151)
44 GRF ss2702909724 Nov 08, 2017 (151)
45 GNOMAD ss2964262440 Nov 08, 2017 (151)
46 AFFY ss2985780077 Nov 08, 2017 (151)
47 SWEGEN ss3017690728 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3028701978 Nov 08, 2017 (151)
49 CSHL ss3352364359 Nov 08, 2017 (151)
50 OMUKHERJEE_ADBS ss3646543466 Oct 12, 2018 (152)
51 EGCUT_WGS ss3684409533 Jul 13, 2019 (153)
52 EVA_DECODE ss3703019428 Jul 13, 2019 (153)
53 ACPOP ss3743150455 Jul 13, 2019 (153)
54 EVA ss3756209724 Jul 13, 2019 (153)
55 KHV_HUMAN_GENOMES ss3821462155 Jul 13, 2019 (153)
56 EVA ss3835528519 Apr 27, 2020 (154)
57 EVA ss3841387221 Apr 27, 2020 (154)
58 EVA ss3846894285 Apr 27, 2020 (154)
59 SGDP_PRJ ss3888500594 Apr 27, 2020 (154)
60 KRGDB ss3938666689 Apr 27, 2020 (154)
61 FSA-LAB ss3984164329 Apr 26, 2021 (155)
62 EVA ss3986815494 Apr 26, 2021 (155)
63 VINODS ss4033858742 Apr 26, 2021 (155)
64 VINODS ss4033863107 Apr 26, 2021 (155)
65 VINODS ss4033864340 Apr 26, 2021 (155)
66 VINODS ss4033865594 Apr 26, 2021 (155)
67 VINODS ss4033869062 Apr 26, 2021 (155)
68 VINODS ss4033871196 Apr 26, 2021 (155)
69 VINODS ss4033877587 Apr 26, 2021 (155)
70 TOPMED ss5078753165 Apr 26, 2021 (155)
71 TOMMO_GENOMICS ss5228358064 Apr 26, 2021 (155)
72 EVA ss5237249898 Apr 26, 2021 (155)
73 1000G_HIGH_COVERAGE ss5307709505 Oct 16, 2022 (156)
74 EVA ss5435597784 Oct 16, 2022 (156)
75 HUGCELL_USP ss5500150982 Oct 16, 2022 (156)
76 EVA ss5512127991 Oct 16, 2022 (156)
77 1000G_HIGH_COVERAGE ss5613622534 Oct 16, 2022 (156)
78 EVA ss5624095106 Oct 16, 2022 (156)
79 SANFORD_IMAGENETICS ss5662649475 Oct 16, 2022 (156)
80 TOMMO_GENOMICS ss5787198721 Oct 16, 2022 (156)
81 EVA ss5800226436 Oct 16, 2022 (156)
82 YY_MCH ss5817720324 Oct 16, 2022 (156)
83 EVA ss5840726535 Oct 16, 2022 (156)
84 EVA ss5848503425 Oct 16, 2022 (156)
85 EVA ss5852339564 Oct 16, 2022 (156)
86 EVA ss5928572294 Oct 16, 2022 (156)
87 EVA ss5954047964 Oct 16, 2022 (156)
88 1000Genomes NC_000019.9 - 55485786 Oct 12, 2018 (152)
89 1000Genomes_30x NC_000019.10 - 54974418 Oct 16, 2022 (156)
90 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 55485786 Oct 12, 2018 (152)
91 Genetic variation in the Estonian population NC_000019.9 - 55485786 Oct 12, 2018 (152)
92 The Danish reference pan genome NC_000019.9 - 55485786 Apr 27, 2020 (154)
93 gnomAD - Genomes NC_000019.10 - 54974418 Apr 26, 2021 (155)
94 Genome of the Netherlands Release 5 NC_000019.9 - 55485786 Apr 27, 2020 (154)
95 KOREAN population from KRGDB NC_000019.9 - 55485786 Apr 27, 2020 (154)
96 Medical Genome Project healthy controls from Spanish population NC_000019.9 - 55485786 Apr 27, 2020 (154)
97 Northern Sweden NC_000019.9 - 55485786 Jul 13, 2019 (153)
98 Qatari NC_000019.9 - 55485786 Apr 27, 2020 (154)
99 SGDP_PRJ NC_000019.9 - 55485786 Apr 27, 2020 (154)
100 Siberian NC_000019.9 - 55485786 Apr 27, 2020 (154)
101 8.3KJPN NC_000019.9 - 55485786 Apr 26, 2021 (155)
102 14KJPN NC_000019.10 - 54974418 Oct 16, 2022 (156)
103 TopMed NC_000019.10 - 54974418 Apr 26, 2021 (155)
104 UK 10K study - Twins NC_000019.9 - 55485786 Oct 12, 2018 (152)
105 A Vietnamese Genetic Variation Database NC_000019.9 - 55485786 Jul 13, 2019 (153)
106 ALFA NC_000019.10 - 54974418 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)
rs3803896 Oct 08, 2002 (108)
rs17836504 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss91013200, ss111537986, ss168379311, ss203794300, ss208420198, ss283257084, ss287403014, ss1698479131 NC_000019.8:60177597:G:A NC_000019.10:54974417:G:A (self)
77073703, 42661704, 30147781, 4869316, 19009073, 45844083, 643216, 16435320, 19973723, 40517574, 10809835, 86327371, 42661704, 9419079, ss228195594, ss237719081, ss243914852, ss566062821, ss661932880, ss994425614, ss1081988877, ss1363648749, ss1428441502, ss1578688859, ss1638192443, ss1681186476, ss1711527456, ss1809368623, ss1937931801, ss1968666206, ss2029740598, ss2158293481, ss2629367791, ss2702909724, ss2964262440, ss2985780077, ss3017690728, ss3352364359, ss3646543466, ss3684409533, ss3743150455, ss3756209724, ss3835528519, ss3841387221, ss3888500594, ss3938666689, ss3984164329, ss3986815494, ss5228358064, ss5435597784, ss5512127991, ss5624095106, ss5662649475, ss5800226436, ss5840726535, ss5848503425, ss5954047964 NC_000019.9:55485785:G:A NC_000019.10:54974417:G:A (self)
101148469, 543513340, 121035825, 294298829, 5390597767, ss2226608214, ss3028701978, ss3703019428, ss3821462155, ss3846894285, ss5078753165, ss5237249898, ss5307709505, ss5500150982, ss5613622534, ss5787198721, ss5817720324, ss5852339564, ss5928572294 NC_000019.10:54974417:G:A NC_000019.10:54974417:G:A (self)
ss10927443, ss14429082, ss16790197, ss21542892, ss76892297 NT_011109.15:27753975:G:A NC_000019.10:54974417:G:A (self)
ss899537, ss900054, ss1917622, ss1917925, ss2167359, ss2497992, ss4990283, ss5500544, ss24204805, ss44181816 NT_011109.16:27754003:G:A NC_000019.10:54974417:G:A (self)
ss4033877587 NT_187693.1:956899:G:A NC_000019.10:54974417:G:A (self)
ss4033858742 NW_003571054.1:877815:G:A NC_000019.10:54974417:G:A (self)
ss4033863107 NW_003571057.2:981940:G:A NC_000019.10:54974417:G:A (self)
ss4033864340 NW_003571058.2:956489:G:A NC_000019.10:54974417:G:A (self)
ss4033865594 NW_003571059.2:892782:G:A NC_000019.10:54974417:G:A (self)
ss4033869062 NW_003571060.1:877172:G:A NC_000019.10:54974417:G:A (self)
ss4033871196 NW_003571061.2:686578:G:A NC_000019.10:54974417:G:A (self)
45844083, ss3938666689 NC_000019.9:55485785:G:C NC_000019.10:54974417: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.

1 citation for rs703468
PMID Title Author Year Journal
24754275 Association of polymorphisms in SPARC and NLRP2 genes with rheumatoid arthritis in a Chinese Han population. Yang XL et al. 2015 Modern rheumatology
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