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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.

rs222748

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:3591067 (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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.105962 (12401/117032, ALFA)
T=0.11432 (8997/78698, PAGE_STUDY)
A=0.28086 (7936/28256, 14KJPN) (+ 21 more)
A=0.28166 (4720/16758, 8.3KJPN)
A=0.08502 (1083/12738, GO-ESP)
A=0.1574 (1008/6404, 1000G_30x)
A=0.1623 (813/5008, 1000G)
A=0.1049 (470/4480, Estonian)
A=0.1129 (435/3854, ALSPAC)
A=0.1170 (434/3708, TWINSUK)
A=0.2450 (716/2922, KOREAN)
A=0.1643 (342/2082, HGDP_Stanford)
A=0.1339 (252/1882, HapMap)
A=0.2707 (496/1832, Korea1K)
A=0.118 (118/998, GoNL)
A=0.153 (96/626, Chileans)
A=0.278 (170/611, Vietnamese)
A=0.090 (54/600, NorthernSweden)
A=0.109 (58/534, MGP)
A=0.153 (33/216, Qatari)
G=0.366 (63/172, SGDP_PRJ)
A=0.03 (2/80, Ancient Sardinia)
A=0.15 (6/40, GENOME_DK)
G=0.42 (5/12, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TRPV1 : Missense Variant
Publications
2 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 117032 G=0.893576 A=0.105962, C=0.000000, T=0.000461
European Sub 92058 G=0.89586 A=0.10401, C=0.00000, T=0.00013
African Sub 6268 G=0.9697 A=0.0273, C=0.0000, T=0.0030
African Others Sub 192 G=0.995 A=0.005, C=0.000, T=0.000
African American Sub 6076 G=0.9689 A=0.0280, C=0.0000, T=0.0031
Asian Sub 284 G=0.768 A=0.204, C=0.000, T=0.028
East Asian Sub 198 G=0.768 A=0.192, C=0.000, T=0.040
Other Asian Sub 86 G=0.77 A=0.23, C=0.00, T=0.00
Latin American 1 Sub 738 G=0.925 A=0.075, C=0.000, T=0.000
Latin American 2 Sub 3340 G=0.8734 A=0.1266, C=0.0000, T=0.0000
South Asian Sub 4948 G=0.7819 A=0.2179, C=0.0000, T=0.0002
Other Sub 9396 G=0.8877 A=0.1108, C=0.0000, T=0.0015


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
Allele Frequency Aggregator Total Global 117032 G=0.893576 A=0.105962, C=0.000000, T=0.000461
Allele Frequency Aggregator European Sub 92058 G=0.89586 A=0.10401, C=0.00000, T=0.00013
Allele Frequency Aggregator Other Sub 9396 G=0.8877 A=0.1108, C=0.0000, T=0.0015
Allele Frequency Aggregator African Sub 6268 G=0.9697 A=0.0273, C=0.0000, T=0.0030
Allele Frequency Aggregator South Asian Sub 4948 G=0.7819 A=0.2179, C=0.0000, T=0.0002
Allele Frequency Aggregator Latin American 2 Sub 3340 G=0.8734 A=0.1266, C=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 738 G=0.925 A=0.075, C=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 284 G=0.768 A=0.204, C=0.000, T=0.028
The PAGE Study Global Study-wide 78698 G=0.88568 T=0.11432
The PAGE Study AfricanAmerican Sub 32514 G=0.95685 T=0.04315
The PAGE Study Mexican Sub 10808 G=0.85613 T=0.14387
The PAGE Study Asian Sub 8318 G=0.7307 T=0.2693
The PAGE Study PuertoRican Sub 7918 G=0.9091 T=0.0909
The PAGE Study NativeHawaiian Sub 4534 G=0.7042 T=0.2958
The PAGE Study Cuban Sub 4230 G=0.9092 T=0.0908
The PAGE Study Dominican Sub 3828 G=0.9101 T=0.0899
The PAGE Study CentralAmerican Sub 2450 G=0.8416 T=0.1584
The PAGE Study SouthAmerican Sub 1982 G=0.8648 T=0.1352
The PAGE Study NativeAmerican Sub 1260 G=0.8762 T=0.1238
The PAGE Study SouthAsian Sub 856 G=0.769 T=0.231
14KJPN JAPANESE Study-wide 28256 G=0.71914 A=0.28086
8.3KJPN JAPANESE Study-wide 16758 G=0.71834 A=0.28166
GO Exome Sequencing Project Global Study-wide 12738 G=0.91498 A=0.08502
GO Exome Sequencing Project European American Sub 8478 G=0.8920 A=0.1080
GO Exome Sequencing Project African American Sub 4260 G=0.9608 A=0.0392
1000Genomes_30x Global Study-wide 6404 G=0.8426 A=0.1574
1000Genomes_30x African Sub 1786 G=0.9726 A=0.0274
1000Genomes_30x Europe Sub 1266 G=0.8602 A=0.1398
1000Genomes_30x South Asian Sub 1202 G=0.7121 A=0.2879
1000Genomes_30x East Asian Sub 1170 G=0.7393 A=0.2607
1000Genomes_30x American Sub 980 G=0.866 A=0.134
1000Genomes Global Study-wide 5008 G=0.8377 A=0.1623
1000Genomes African Sub 1322 G=0.9758 A=0.0242
1000Genomes East Asian Sub 1008 G=0.7341 A=0.2659
1000Genomes Europe Sub 1006 G=0.8648 A=0.1352
1000Genomes South Asian Sub 978 G=0.713 A=0.287
1000Genomes American Sub 694 G=0.862 A=0.138
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8951 A=0.1049
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8871 A=0.1129
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8830 A=0.1170
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.7550 A=0.2450
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 G=0.8357 A=0.1643
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.749 A=0.251
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.814 A=0.186
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.891 A=0.109
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.891 A=0.109
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.967 A=0.033
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.866 A=0.134
HGDP-CEPH-db Supplement 1 Oceania Sub 70 G=0.47 A=0.53
HapMap Global Study-wide 1882 G=0.8661 A=0.1339
HapMap American Sub 764 G=0.822 A=0.178
HapMap African Sub 688 G=0.968 A=0.032
HapMap Asian Sub 254 G=0.717 A=0.283
HapMap Europe Sub 176 G=0.875 A=0.125
Korean Genome Project KOREAN Study-wide 1832 G=0.7293 A=0.2707
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.882 A=0.118
Chileans Chilean Study-wide 626 G=0.847 A=0.153
A Vietnamese Genetic Variation Database Global Study-wide 611 G=0.722 A=0.278
Northern Sweden ACPOP Study-wide 600 G=0.910 A=0.090
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.891 A=0.109
Qatari Global Study-wide 216 G=0.847 A=0.153
SGDP_PRJ Global Study-wide 172 G=0.366 A=0.634
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 80 G=0.97 A=0.03
The Danish reference pan genome Danish Study-wide 40 G=0.85 A=0.15
Siberian Global Study-wide 12 G=0.42 A=0.58
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 17 NC_000017.11:g.3591067G>A
GRCh38.p14 chr 17 NC_000017.11:g.3591067G>C
GRCh38.p14 chr 17 NC_000017.11:g.3591067G>T
GRCh37.p13 chr 17 NC_000017.10:g.3494361G>A
GRCh37.p13 chr 17 NC_000017.10:g.3494361G>C
GRCh37.p13 chr 17 NC_000017.10:g.3494361G>T
TRPV1 RefSeqGene NG_029716.2:g.23344C>T
TRPV1 RefSeqGene NG_029716.2:g.23344C>G
TRPV1 RefSeqGene NG_029716.2:g.23344C>A
TRPV1 RefSeqGene NG_029716.1:g.23345C>T
TRPV1 RefSeqGene NG_029716.1:g.23345C>G
TRPV1 RefSeqGene NG_029716.1:g.23345C>A
Gene: TRPV1, transient receptor potential cation channel subfamily V member 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TRPV1 transcript variant 2 NM_018727.5:c.501C>T H [CAC] > H [CAT] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 1 NP_061197.4:p.His167= H (His) > H (His) Synonymous Variant
TRPV1 transcript variant 2 NM_018727.5:c.501C>G H [CAC] > Q [CAG] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 1 NP_061197.4:p.His167Gln H (His) > Q (Gln) Missense Variant
TRPV1 transcript variant 2 NM_018727.5:c.501C>A H [CAC] > Q [CAA] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 1 NP_061197.4:p.His167Gln H (His) > Q (Gln) Missense Variant
TRPV1 transcript variant 3 NM_080706.3:c.501C>T H [CAC] > H [CAT] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 1 NP_542437.2:p.His167= H (His) > H (His) Synonymous Variant
TRPV1 transcript variant 3 NM_080706.3:c.501C>G H [CAC] > Q [CAG] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 1 NP_542437.2:p.His167Gln H (His) > Q (Gln) Missense Variant
TRPV1 transcript variant 3 NM_080706.3:c.501C>A H [CAC] > Q [CAA] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 1 NP_542437.2:p.His167Gln H (His) > Q (Gln) Missense Variant
TRPV1 transcript variant 1 NM_080704.4:c.501C>T H [CAC] > H [CAT] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 1 NP_542435.2:p.His167= H (His) > H (His) Synonymous Variant
TRPV1 transcript variant 1 NM_080704.4:c.501C>G H [CAC] > Q [CAG] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 1 NP_542435.2:p.His167Gln H (His) > Q (Gln) Missense Variant
TRPV1 transcript variant 1 NM_080704.4:c.501C>A H [CAC] > Q [CAA] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 1 NP_542435.2:p.His167Gln H (His) > Q (Gln) Missense Variant
TRPV1 transcript variant 4 NM_080705.4:c.501C>T H [CAC] > H [CAT] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 1 NP_542436.2:p.His167= H (His) > H (His) Synonymous Variant
TRPV1 transcript variant 4 NM_080705.4:c.501C>G H [CAC] > Q [CAG] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 1 NP_542436.2:p.His167Gln H (His) > Q (Gln) Missense Variant
TRPV1 transcript variant 4 NM_080705.4:c.501C>A H [CAC] > Q [CAA] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 1 NP_542436.2:p.His167Gln H (His) > Q (Gln) Missense 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 T
GRCh38.p14 chr 17 NC_000017.11:g.3591067= NC_000017.11:g.3591067G>A NC_000017.11:g.3591067G>C NC_000017.11:g.3591067G>T
GRCh37.p13 chr 17 NC_000017.10:g.3494361= NC_000017.10:g.3494361G>A NC_000017.10:g.3494361G>C NC_000017.10:g.3494361G>T
TRPV1 RefSeqGene NG_029716.2:g.23344= NG_029716.2:g.23344C>T NG_029716.2:g.23344C>G NG_029716.2:g.23344C>A
TRPV1 RefSeqGene NG_029716.1:g.23345= NG_029716.1:g.23345C>T NG_029716.1:g.23345C>G NG_029716.1:g.23345C>A
TRPV1 transcript variant 2 NM_018727.5:c.501= NM_018727.5:c.501C>T NM_018727.5:c.501C>G NM_018727.5:c.501C>A
TRPV1 transcript variant 1 NM_080704.4:c.501= NM_080704.4:c.501C>T NM_080704.4:c.501C>G NM_080704.4:c.501C>A
TRPV1 transcript variant 1 NM_080704.3:c.501= NM_080704.3:c.501C>T NM_080704.3:c.501C>G NM_080704.3:c.501C>A
TRPV1 transcript variant 4 NM_080705.4:c.501= NM_080705.4:c.501C>T NM_080705.4:c.501C>G NM_080705.4:c.501C>A
TRPV1 transcript variant 4 NM_080705.3:c.501= NM_080705.3:c.501C>T NM_080705.3:c.501C>G NM_080705.3:c.501C>A
TRPV1 transcript variant 3 NM_080706.3:c.501= NM_080706.3:c.501C>T NM_080706.3:c.501C>G NM_080706.3:c.501C>A
transient receptor potential cation channel subfamily V member 1 NP_061197.4:p.His167= NP_061197.4:p.His167= NP_061197.4:p.His167Gln NP_061197.4:p.His167Gln
transient receptor potential cation channel subfamily V member 1 NP_542435.2:p.His167= NP_542435.2:p.His167= NP_542435.2:p.His167Gln NP_542435.2:p.His167Gln
transient receptor potential cation channel subfamily V member 1 NP_542436.2:p.His167= NP_542436.2:p.His167= NP_542436.2:p.His167Gln NP_542436.2:p.His167Gln
transient receptor potential cation channel subfamily V member 1 NP_542437.2:p.His167= NP_542437.2:p.His167= NP_542437.2:p.His167Gln NP_542437.2:p.His167Gln
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#.

132 SubSNP, 32 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss289273 Jul 12, 2000 (79)
2 KWOK ss291306 Jul 12, 2000 (85)
3 SC_JCM ss622234 Jul 16, 2000 (80)
4 KWOK ss1020767 Oct 04, 2000 (86)
5 KWOK ss1021557 Oct 04, 2000 (86)
6 KWOK ss1630162 Oct 18, 2000 (87)
7 YUSUKE ss3214602 Sep 28, 2001 (100)
8 BCM_SSAHASNP ss10870695 Jul 11, 2003 (116)
9 PERLEGEN ss24582703 Sep 20, 2004 (123)
10 ABI ss43970578 Mar 13, 2006 (126)
11 APPLERA_GI ss48426735 Mar 13, 2006 (126)
12 ILLUMINA ss66836079 Nov 29, 2006 (127)
13 ILLUMINA ss67235462 Nov 29, 2006 (127)
14 ILLUMINA ss67631552 Nov 29, 2006 (127)
15 ILLUMINA ss70713806 May 27, 2008 (130)
16 ILLUMINA ss71281482 May 16, 2007 (127)
17 ILLUMINA ss75914946 Dec 06, 2007 (129)
18 AFFY ss76770842 Dec 08, 2007 (130)
19 CGM_KYOTO ss76874264 Dec 06, 2007 (129)
20 ILLUMINA ss79121654 Dec 16, 2007 (130)
21 KRIBB_YJKIM ss83392127 Dec 16, 2007 (130)
22 HUMANGENOME_JCVI ss96575262 Feb 06, 2009 (130)
23 ILLUMINA ss121956782 Dec 01, 2009 (131)
24 ENSEMBL ss136574451 Dec 01, 2009 (131)
25 ILLUMINA ss153887814 Dec 01, 2009 (131)
26 ILLUMINA ss159369979 Dec 01, 2009 (131)
27 ILLUMINA ss171103551 Jul 04, 2010 (132)
28 ILLUMINA ss173191495 Jul 04, 2010 (132)
29 1000GENOMES ss227433408 Jul 14, 2010 (132)
30 1000GENOMES ss237161522 Jul 15, 2010 (132)
31 1000GENOMES ss243475897 Jul 15, 2010 (132)
32 GMI ss282669781 May 04, 2012 (137)
33 PJP ss291960941 May 09, 2011 (134)
34 ILLUMINA ss483621054 May 04, 2012 (137)
35 ILLUMINA ss484087775 May 04, 2012 (137)
36 1000GENOMES ss491112514 May 04, 2012 (137)
37 GSK-GENETICS ss491250955 May 04, 2012 (137)
38 CLINSEQ_SNP ss491726873 May 04, 2012 (137)
39 ILLUMINA ss536277997 Sep 08, 2015 (146)
40 SSMP ss660917758 Apr 25, 2013 (138)
41 NHLBI-ESP ss713345438 Apr 25, 2013 (138)
42 ILLUMINA ss780521705 Sep 08, 2015 (146)
43 ILLUMINA ss782488854 Sep 08, 2015 (146)
44 ILLUMINA ss825452172 Apr 01, 2015 (144)
45 ILLUMINA ss832881807 Jul 13, 2019 (153)
46 ILLUMINA ss836013118 Sep 08, 2015 (146)
47 JMKIDD_LAB ss974496839 Aug 21, 2014 (142)
48 EVA-GONL ss992864631 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1067566205 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1080890832 Aug 21, 2014 (142)
51 1000GENOMES ss1357685439 Aug 21, 2014 (142)
52 DDI ss1427959162 Apr 01, 2015 (144)
53 EVA_GENOME_DK ss1578064666 Apr 01, 2015 (144)
54 EVA_UK10K_ALSPAC ss1635174528 Apr 01, 2015 (144)
55 EVA_UK10K_TWINSUK ss1678168561 Apr 01, 2015 (144)
56 EVA_EXAC ss1692520129 Apr 01, 2015 (144)
57 EVA_EXAC ss1692520130 Apr 01, 2015 (144)
58 EVA_DECODE ss1696904815 Apr 01, 2015 (144)
59 EVA_MGP ss1711443630 Apr 01, 2015 (144)
60 EVA_SVP ss1713565744 Apr 01, 2015 (144)
61 WEILL_CORNELL_DGM ss1936310182 Feb 12, 2016 (147)
62 ILLUMINA ss1959715707 Feb 12, 2016 (147)
63 GENOMED ss1968339683 Jul 19, 2016 (147)
64 JJLAB ss2028943455 Sep 14, 2016 (149)
65 USC_VALOUEV ss2157388336 Dec 20, 2016 (150)
66 HUMAN_LONGEVITY ss2215063218 Dec 20, 2016 (150)
67 SYSTEMSBIOZJU ss2628962718 Nov 08, 2017 (151)
68 ILLUMINA ss2633367500 Nov 08, 2017 (151)
69 GRF ss2701929412 Nov 08, 2017 (151)
70 GNOMAD ss2742321160 Nov 08, 2017 (151)
71 GNOMAD ss2749652425 Nov 08, 2017 (151)
72 GNOMAD ss2947072295 Nov 08, 2017 (151)
73 AFFY ss2985720763 Nov 08, 2017 (151)
74 SWEGEN ss3015100984 Nov 08, 2017 (151)
75 ILLUMINA ss3021746648 Nov 08, 2017 (151)
76 BIOINF_KMB_FNS_UNIBA ss3028289858 Nov 08, 2017 (151)
77 CSHL ss3351625301 Nov 08, 2017 (151)
78 ILLUMINA ss3627610420 Oct 12, 2018 (152)
79 ILLUMINA ss3631350472 Oct 12, 2018 (152)
80 ILLUMINA ss3638145793 Oct 12, 2018 (152)
81 ILLUMINA ss3639083930 Oct 12, 2018 (152)
82 ILLUMINA ss3639548497 Oct 12, 2018 (152)
83 ILLUMINA ss3641076388 Oct 12, 2018 (152)
84 ILLUMINA ss3641371821 Oct 12, 2018 (152)
85 ILLUMINA ss3641979820 Oct 12, 2018 (152)
86 ILLUMINA ss3643125448 Oct 12, 2018 (152)
87 OMUKHERJEE_ADBS ss3646501780 Oct 12, 2018 (152)
88 URBANLAB ss3650590338 Oct 12, 2018 (152)
89 ILLUMINA ss3652159235 Oct 12, 2018 (152)
90 EGCUT_WGS ss3682068798 Jul 13, 2019 (153)
91 EVA_DECODE ss3699970944 Jul 13, 2019 (153)
92 ILLUMINA ss3725595138 Jul 13, 2019 (153)
93 ACPOP ss3741822010 Jul 13, 2019 (153)
94 EVA ss3754381545 Jul 13, 2019 (153)
95 PAGE_CC ss3771906644 Jul 13, 2019 (153)
96 PACBIO ss3788133301 Jul 13, 2019 (153)
97 PACBIO ss3793103922 Jul 13, 2019 (153)
98 PACBIO ss3797989509 Jul 13, 2019 (153)
99 KHV_HUMAN_GENOMES ss3819651089 Jul 13, 2019 (153)
100 EVA ss3825060958 Apr 27, 2020 (154)
101 EVA ss3825889073 Apr 27, 2020 (154)
102 EVA ss3834748933 Apr 27, 2020 (154)
103 EVA ss3840982625 Apr 27, 2020 (154)
104 EVA ss3846476764 Apr 27, 2020 (154)
105 HGDP ss3847556924 Apr 27, 2020 (154)
106 SGDP_PRJ ss3885218829 Apr 27, 2020 (154)
107 KRGDB ss3934800145 Apr 27, 2020 (154)
108 KOGIC ss3978280498 Apr 27, 2020 (154)
109 FSA-LAB ss3984104304 Apr 27, 2021 (155)
110 EVA ss3985777812 Apr 27, 2021 (155)
111 EVA ss3986072300 Apr 27, 2021 (155)
112 EVA ss3986706909 Apr 27, 2021 (155)
113 TOPMED ss5027610413 Apr 27, 2021 (155)
114 TOPMED ss5027610414 Apr 27, 2021 (155)
115 TOMMO_GENOMICS ss5221233402 Apr 27, 2021 (155)
116 EVA ss5236938204 Apr 27, 2021 (155)
117 EVA ss5237667662 Oct 17, 2022 (156)
118 1000G_HIGH_COVERAGE ss5302227343 Oct 17, 2022 (156)
119 TRAN_CS_UWATERLOO ss5314446186 Oct 17, 2022 (156)
120 EVA ss5315868683 Oct 17, 2022 (156)
121 EVA ss5426033914 Oct 17, 2022 (156)
122 HUGCELL_USP ss5495424525 Oct 17, 2022 (156)
123 1000G_HIGH_COVERAGE ss5605494483 Oct 17, 2022 (156)
124 EVA ss5623969354 Oct 17, 2022 (156)
125 SANFORD_IMAGENETICS ss5659612142 Oct 17, 2022 (156)
126 TOMMO_GENOMICS ss5776747703 Oct 17, 2022 (156)
127 YY_MCH ss5816286013 Oct 17, 2022 (156)
128 EVA ss5833642104 Oct 17, 2022 (156)
129 EVA ss5848437278 Oct 17, 2022 (156)
130 EVA ss5851714814 Oct 17, 2022 (156)
131 EVA ss5913006273 Oct 17, 2022 (156)
132 EVA ss5951020965 Oct 17, 2022 (156)
133 1000Genomes NC_000017.10 - 3494361 Oct 12, 2018 (152)
134 1000Genomes_30x NC_000017.11 - 3591067 Oct 17, 2022 (156)
135 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 3494361 Oct 12, 2018 (152)
136 Chileans NC_000017.10 - 3494361 Apr 27, 2020 (154)
137 Genetic variation in the Estonian population NC_000017.10 - 3494361 Oct 12, 2018 (152)
138 ExAC

Submission ignored due to conflicting rows:
Row 2943134 (NC_000017.10:3494360:G:G 92247/108184, NC_000017.10:3494360:G:A 15937/108184)
Row 2943135 (NC_000017.10:3494360:G:G 108178/108184, NC_000017.10:3494360:G:T 6/108184)

- Oct 12, 2018 (152)
139 ExAC

Submission ignored due to conflicting rows:
Row 2943134 (NC_000017.10:3494360:G:G 92247/108184, NC_000017.10:3494360:G:A 15937/108184)
Row 2943135 (NC_000017.10:3494360:G:G 108178/108184, NC_000017.10:3494360:G:T 6/108184)

- Oct 12, 2018 (152)
140 The Danish reference pan genome NC_000017.10 - 3494361 Apr 27, 2020 (154)
141 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 499902783 (NC_000017.11:3591066:G:A 13477/140158)
Row 499902784 (NC_000017.11:3591066:G:T 10/140184)

- Apr 27, 2021 (155)
142 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 499902783 (NC_000017.11:3591066:G:A 13477/140158)
Row 499902784 (NC_000017.11:3591066:G:T 10/140184)

- Apr 27, 2021 (155)
143 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 11615314 (NC_000017.10:3494360:G:G 212917/246538, NC_000017.10:3494360:G:A 33621/246538)
Row 11615315 (NC_000017.10:3494360:G:G 246532/246538, NC_000017.10:3494360:G:T 6/246538)

- Jul 13, 2019 (153)
144 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 11615314 (NC_000017.10:3494360:G:G 212917/246538, NC_000017.10:3494360:G:A 33621/246538)
Row 11615315 (NC_000017.10:3494360:G:G 246532/246538, NC_000017.10:3494360:G:T 6/246538)

- Jul 13, 2019 (153)
145 GO Exome Sequencing Project NC_000017.10 - 3494361 Oct 12, 2018 (152)
146 Genome of the Netherlands Release 5 NC_000017.10 - 3494361 Apr 27, 2020 (154)
147 HGDP-CEPH-db Supplement 1 NC_000017.9 - 3441110 Apr 27, 2020 (154)
148 HapMap NC_000017.11 - 3591067 Apr 27, 2020 (154)
149 KOREAN population from KRGDB NC_000017.10 - 3494361 Apr 27, 2020 (154)
150 Korean Genome Project NC_000017.11 - 3591067 Apr 27, 2020 (154)
151 Medical Genome Project healthy controls from Spanish population NC_000017.10 - 3494361 Apr 27, 2020 (154)
152 Northern Sweden NC_000017.10 - 3494361 Jul 13, 2019 (153)
153 The PAGE Study NC_000017.11 - 3591067 Jul 13, 2019 (153)
154 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000017.10 - 3494361 Apr 27, 2021 (155)
155 Qatari NC_000017.10 - 3494361 Apr 27, 2020 (154)
156 SGDP_PRJ NC_000017.10 - 3494361 Apr 27, 2020 (154)
157 Siberian NC_000017.10 - 3494361 Apr 27, 2020 (154)
158 8.3KJPN NC_000017.10 - 3494361 Apr 27, 2021 (155)
159 14KJPN NC_000017.11 - 3591067 Oct 17, 2022 (156)
160 TopMed

Submission ignored due to conflicting rows:
Row 243156075 (NC_000017.11:3591066:G:A 26033/264690)
Row 243156076 (NC_000017.11:3591066:G:C 3/264690)

- Apr 27, 2021 (155)
161 TopMed

Submission ignored due to conflicting rows:
Row 243156075 (NC_000017.11:3591066:G:A 26033/264690)
Row 243156076 (NC_000017.11:3591066:G:C 3/264690)

- Apr 27, 2021 (155)
162 UK 10K study - Twins NC_000017.10 - 3494361 Oct 12, 2018 (152)
163 A Vietnamese Genetic Variation Database NC_000017.10 - 3494361 Jul 13, 2019 (153)
164 ALFA NC_000017.11 - 3591067 Apr 27, 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)
rs224543 Sep 19, 2000 (85)
rs17633578 Oct 08, 2004 (123)
rs56455583 May 27, 2008 (130)
rs61624380 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
234816, ss282669781, ss291960941, ss483621054, ss491250955, ss491726873, ss825452172, ss1696904815, ss1713565744, ss3639083930, ss3639548497, ss3643125448, ss3847556924 NC_000017.9:3441109:G:A NC_000017.11:3591066:G:A (self)
70891148, 39317362, 176393, 27807046, 4270717, 1518093, 17528647, 41977539, 559390, 15106875, 1003739, 18352104, 37235809, 9904690, 79202709, 39317362, 8710783, ss227433408, ss237161522, ss243475897, ss484087775, ss491112514, ss536277997, ss660917758, ss713345438, ss780521705, ss782488854, ss832881807, ss836013118, ss974496839, ss992864631, ss1067566205, ss1080890832, ss1357685439, ss1427959162, ss1578064666, ss1635174528, ss1678168561, ss1692520129, ss1711443630, ss1936310182, ss1968339683, ss2028943455, ss2157388336, ss2628962718, ss2633367500, ss2701929412, ss2742321160, ss2749652425, ss2947072295, ss2985720763, ss3015100984, ss3351625301, ss3627610420, ss3631350472, ss3638145793, ss3641076388, ss3641371821, ss3641979820, ss3646501780, ss3682068798, ss3741822010, ss3754381545, ss3788133301, ss3793103922, ss3797989509, ss3825060958, ss3825889073, ss3834748933, ss3840982625, ss3885218829, ss3934800145, ss3984104304, ss3985777812, ss3986072300, ss3986706909, ss5221233402, ss5315868683, ss5426033914, ss5623969354, ss5659612142, ss5833642104, ss5848437278, ss5951020965 NC_000017.10:3494360:G:A NC_000017.11:3591066:G:A (self)
93020418, 1447823, 34658499, 110584807, 14894220868, ss2215063218, ss3028289858, ss3650590338, ss3699970944, ss3819651089, ss3846476764, ss3978280498, ss5027610413, ss5236938204, ss5237667662, ss5302227343, ss5314446186, ss5495424525, ss5605494483, ss5776747703, ss5816286013, ss5851714814, ss5913006273 NC_000017.11:3591066:G:A NC_000017.11:3591066:G:A (self)
ss10870695 NT_010718.13:2341250:G:A NC_000017.11:3591066:G:A (self)
ss289273, ss291306, ss622234, ss1020767, ss1021557, ss1630162, ss3214602, ss24582703, ss43970578, ss48426735, ss66836079, ss67235462, ss67631552, ss70713806, ss71281482, ss75914946, ss76770842, ss76874264, ss79121654, ss83392127, ss96575262, ss121956782, ss136574451, ss153887814, ss159369979, ss171103551, ss173191495 NT_010718.16:3097734:G:A NC_000017.11:3591066:G:A (self)
14894220868, ss5027610414 NC_000017.11:3591066:G:C NC_000017.11:3591066:G:C (self)
ss1692520130, ss1959715707, ss2742321160, ss2749652425, ss2947072295, ss3021746648, ss3652159235 NC_000017.10:3494360:G:T NC_000017.11:3591066:G:T (self)
1128113, 14894220868, ss2215063218, ss3725595138, ss3771906644 NC_000017.11:3591066:G:T NC_000017.11:3591066: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.

2 citations for rs222748
PMID Title Author Year Journal
16882734 Genetic predictors for acute experimental cold and heat pain sensitivity in humans. Kim H et al. 2006 Journal of medical genetics
22443337 Transient receptor potential genes, smoking, occupational exposures and cough in adults. Smit LA et al. 2012 Respiratory research
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