Name: rs8362
Published: September 21, 2022
License: Open Access

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.

rs8362

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:3213332 (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=0.358306 (94840/264690, TOPMED)
A=0.345729 (86946/251486, GnomAD_exome)
A=0.310122 (74977/241766, ALFA) (+ 24 more)
A=0.342524 (47913/139882, GnomAD)
A=0.352002 (42733/121400, ExAC)
G=0.39129 (6558/16760, 8.3KJPN)
A=0.33992 (4421/13006, GO-ESP)
A=0.4630 (2965/6404, 1000G_30x)
A=0.4704 (2356/5008, 1000G)
A=0.2873 (1287/4480, Estonian)
A=0.2992 (1153/3854, ALSPAC)
A=0.2958 (1097/3708, TWINSUK)
G=0.3935 (1153/2930, KOREAN)
A=0.4304 (897/2084, HGDP_Stanford)
A=0.4783 (905/1892, HapMap)
G=0.3974 (728/1832, Korea1K)
A=0.3704 (420/1134, Daghestan)
A=0.276 (275/998, GoNL)
G=0.384 (236/614, Vietnamese)
A=0.320 (192/600, NorthernSweden)
A=0.279 (149/534, MGP)
G=0.295 (104/352, SGDP_PRJ)
A=0.211 (64/304, FINRISK)
A=0.356 (77/216, Qatari)
A=0.27 (14/52, Ancient Sardinia)
A=0.38 (15/40, GENOME_DK)
G=0.37 (11/30, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ITPA : Missense Variant
Publications: 3 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	258204	G=0.687867	A=0.312133
European	Sub	214310	G=0.702207	A=0.297793
African	Sub	15194	G=0.55772	A=0.44228
African Others	Sub	540	G=0.559	A=0.441
African American	Sub	14654	G=0.55766	A=0.44234
Asian	Sub	760	G=0.408	A=0.592
East Asian	Sub	584	G=0.390	A=0.610
Other Asian	Sub	176	G=0.466	A=0.534
Latin American 1	Sub	1196	G=0.6405	A=0.3595
Latin American 2	Sub	6918	G=0.7249	A=0.2751
South Asian	Sub	5044	G=0.4913	A=0.5087
Other	Sub	14782	G=0.68171	A=0.31829

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.641694	A=0.358306
gnomAD - Exomes	Global	Study-wide	251486	G=0.654271	A=0.345729
gnomAD - Exomes	European	Sub	135408	G=0.725001	A=0.274999
gnomAD - Exomes	Asian	Sub	49010	G=0.43450	A=0.56550
gnomAD - Exomes	American	Sub	34592	G=0.72401	A=0.27599
gnomAD - Exomes	African	Sub	16256	G=0.53617	A=0.46383
gnomAD - Exomes	Ashkenazi Jewish	Sub	10080	G=0.71200	A=0.28800
gnomAD - Exomes	Other	Sub	6140	G=0.6736	A=0.3264
Allele Frequency Aggregator	Total	Global	241766	G=0.689878	A=0.310122
Allele Frequency Aggregator	European	Sub	204158	G=0.702044	A=0.297956
Allele Frequency Aggregator	Other	Sub	13332	G=0.68189	A=0.31811
Allele Frequency Aggregator	African	Sub	10358	G=0.56005	A=0.43995
Allele Frequency Aggregator	Latin American 2	Sub	6918	G=0.7249	A=0.2751
Allele Frequency Aggregator	South Asian	Sub	5044	G=0.4913	A=0.5087
Allele Frequency Aggregator	Latin American 1	Sub	1196	G=0.6405	A=0.3595
Allele Frequency Aggregator	Asian	Sub	760	G=0.408	A=0.592
gnomAD - Genomes	Global	Study-wide	139882	G=0.657476	A=0.342524
gnomAD - Genomes	European	Sub	75824	G=0.71798	A=0.28202
gnomAD - Genomes	African	Sub	41866	G=0.54311	A=0.45689
gnomAD - Genomes	American	Sub	13610	G=0.71932	A=0.28068
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	G=0.6998	A=0.3002
gnomAD - Genomes	East Asian	Sub	3118	G=0.4185	A=0.5815
gnomAD - Genomes	Other	Sub	2146	G=0.6403	A=0.3597
ExAC	Global	Study-wide	121400	G=0.647998	A=0.352002
ExAC	Europe	Sub	73354	G=0.72475	A=0.27525
ExAC	Asian	Sub	25154	G=0.43444	A=0.56556
ExAC	American	Sub	11578	G=0.72284	A=0.27716
ExAC	African	Sub	10406	G=0.53777	A=0.46223
ExAC	Other	Sub	908	G=0.673	A=0.327
8.3KJPN	JAPANESE	Study-wide	16760	G=0.39129	A=0.60871
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.66008	A=0.33992
GO Exome Sequencing Project	European American	Sub	8600	G=0.7205	A=0.2795
GO Exome Sequencing Project	African American	Sub	4406	G=0.5422	A=0.4578
1000Genomes_30x	Global	Study-wide	6404	G=0.5370	A=0.4630
1000Genomes_30x	African	Sub	1786	G=0.5241	A=0.4759
1000Genomes_30x	Europe	Sub	1266	G=0.6927	A=0.3073
1000Genomes_30x	South Asian	Sub	1202	G=0.3985	A=0.6015
1000Genomes_30x	East Asian	Sub	1170	G=0.3897	A=0.6103
1000Genomes_30x	American	Sub	980	G=0.705	A=0.295
1000Genomes	Global	Study-wide	5008	G=0.5296	A=0.4704
1000Genomes	African	Sub	1322	G=0.5295	A=0.4705
1000Genomes	East Asian	Sub	1008	G=0.3869	A=0.6131
1000Genomes	Europe	Sub	1006	G=0.6978	A=0.3022
1000Genomes	South Asian	Sub	978	G=0.387	A=0.613
1000Genomes	American	Sub	694	G=0.695	A=0.305
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.7127	A=0.2873
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.7008	A=0.2992
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7042	A=0.2958
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.3935	A=0.6065
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.5696	A=0.4304
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.464	A=0.536
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.510	A=0.490
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.609	A=0.391
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.697	A=0.303
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.504	A=0.496
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.880	A=0.120
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.14	A=0.86
HapMap	Global	Study-wide	1892	G=0.5217	A=0.4783
HapMap	American	Sub	770	G=0.532	A=0.468
HapMap	African	Sub	692	G=0.522	A=0.478
HapMap	Asian	Sub	254	G=0.390	A=0.610
HapMap	Europe	Sub	176	G=0.665	A=0.335
Korean Genome Project	KOREAN	Study-wide	1832	G=0.3974	A=0.6026
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	G=0.6296	A=0.3704
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	G=0.675	A=0.325
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	G=0.569	A=0.431
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.566	A=0.434
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.704	A=0.296
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	G=0.39	A=0.61
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.72	A=0.28
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.724	A=0.276
A Vietnamese Genetic Variation Database	Global	Study-wide	614	G=0.384	A=0.616
Northern Sweden	ACPOP	Study-wide	600	G=0.680	A=0.320
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.721	A=0.279
SGDP_PRJ	Global	Study-wide	352	G=0.295	A=0.705
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.789	A=0.211
Qatari	Global	Study-wide	216	G=0.644	A=0.356
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	52	G=0.73	A=0.27
The Danish reference pan genome	Danish	Study-wide	40	G=0.62	A=0.38
Siberian	Global	Study-wide	30	G=0.37	A=0.63

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 20	NC_000020.11:g.3213332G>A
GRCh38.p14 chr 20	NC_000020.11:g.3213332G>C
GRCh37.p13 chr 20	NC_000020.10:g.3193978G>A
GRCh37.p13 chr 20	NC_000020.10:g.3193978G>C
ITPA RefSeqGene	NG_012093.2:g.9466G>A
ITPA RefSeqGene	NG_012093.2:g.9466G>C

Gene: ITPA, inosine triphosphatase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ITPA transcript variant 3	NM_001267623.2:c.67-653G>A	N/A	Intron Variant
ITPA transcript variant 8	NM_001324237.2:c.-200=	N/A	5 Prime UTR Variant
ITPA transcript variant 9	NM_001324238.2:c.-200=	N/A	5 Prime UTR Variant
ITPA transcript variant 7	NM_001324236.2:c.-200=	N/A	5 Prime UTR Variant
ITPA transcript variant 5	NM_001351739.2:c.-200=	N/A	5 Prime UTR Variant
ITPA transcript variant 1	NM_033453.4:c.138G>A	Q [CAG] > Q [CAA]	Coding Sequence Variant
inosine triphosphate pyrophosphatase isoform a	NP_258412.1:p.Gln46=	Q (Gln) > Q (Gln)	Synonymous Variant
ITPA transcript variant 1	NM_033453.4:c.138G>C	Q [CAG] > H [CAC]	Coding Sequence Variant
inosine triphosphate pyrophosphatase isoform a	NP_258412.1:p.Gln46His	Q (Gln) > H (His)	Missense Variant
ITPA transcript variant 10	NM_001324240.2:c.138G>A	Q [CAG] > Q [CAA]	Coding Sequence Variant
inosine triphosphate pyrophosphatase isoform e	NP_001311169.1:p.Gln46=	Q (Gln) > Q (Gln)	Synonymous Variant
ITPA transcript variant 10	NM_001324240.2:c.138G>C	Q [CAG] > H [CAC]	Coding Sequence Variant
inosine triphosphate pyrophosphatase isoform e	NP_001311169.1:p.Gln46His	Q (Gln) > H (His)	Missense Variant
ITPA transcript variant 2	NM_181493.4:c.87G>A	Q [CAG] > Q [CAA]	Coding Sequence Variant
inosine triphosphate pyrophosphatase isoform b	NP_852470.1:p.Gln29=	Q (Gln) > Q (Gln)	Synonymous Variant
ITPA transcript variant 2	NM_181493.4:c.87G>C	Q [CAG] > H [CAC]	Coding Sequence Variant
inosine triphosphate pyrophosphatase isoform b	NP_852470.1:p.Gln29His	Q (Gln) > H (His)	Missense Variant
ITPA transcript variant 4	NR_052000.2:n.	N/A	Intron Variant
ITPA transcript variant 6	NR_052002.2:n.	N/A	Intron Variant
ITPA transcript variant X4	XM_006723565.4:c.67-653G>A	N/A	Intron Variant
ITPA transcript variant X1	XM_047440139.1:c.264G>A	Q [CAG] > Q [CAA]	Coding Sequence Variant
inosine triphosphate pyrophosphatase isoform X1	XP_047296095.1:p.Gln88=	Q (Gln) > Q (Gln)	Synonymous Variant
ITPA transcript variant X1	XM_047440139.1:c.264G>C	Q [CAG] > H [CAC]	Coding Sequence Variant
inosine triphosphate pyrophosphatase isoform X1	XP_047296095.1:p.Gln88His	Q (Gln) > H (His)	Missense Variant
ITPA transcript variant X2	XM_006723564.4:c.138G>A	Q [CAG] > Q [CAA]	Coding Sequence Variant
inosine triphosphate pyrophosphatase isoform X2	XP_006723627.1:p.Gln46=	Q (Gln) > Q (Gln)	Synonymous Variant
ITPA transcript variant X2	XM_006723564.4:c.138G>C	Q [CAG] > H [CAC]	Coding Sequence Variant
inosine triphosphate pyrophosphatase isoform X2	XP_006723627.1:p.Gln46His	Q (Gln) > H (His)	Missense Variant
ITPA transcript variant X3	XM_047440140.1:c.264G>A	Q [CAG] > Q [CAA]	Coding Sequence Variant
inosine triphosphate pyrophosphatase isoform X3	XP_047296096.1:p.Gln88=	Q (Gln) > Q (Gln)	Synonymous Variant
ITPA transcript variant X3	XM_047440140.1:c.264G>C	Q [CAG] > H [CAC]	Coding Sequence Variant
inosine triphosphate pyrophosphatase isoform X3	XP_047296096.1:p.Gln88His	Q (Gln) > H (His)	Missense Variant
ITPA transcript variant X5	XM_011529234.3:c.138G>A	Q [CAG] > Q [CAA]	Coding Sequence Variant
inosine triphosphate pyrophosphatase isoform X5	XP_011527536.1:p.Gln46=	Q (Gln) > Q (Gln)	Synonymous Variant
ITPA transcript variant X5	XM_011529234.3:c.138G>C	Q [CAG] > H [CAC]	Coding Sequence Variant
inosine triphosphate pyrophosphatase isoform X5	XP_011527536.1:p.Gln46His	Q (Gln) > H (His)	Missense Variant

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: 1158772 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001522154.4	Inosine triphosphatase deficiency	Benign
RCV001685414.1	not provided	Benign
RCV001730816.2	Developmental and epileptic encephalopathy, 35	Benign
RCV001806218.1	not specified	Benign

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 20	NC_000020.11:g.3213332=	NC_000020.11:g.3213332G>A	NC_000020.11:g.3213332G>C
GRCh37.p13 chr 20	NC_000020.10:g.3193978=	NC_000020.10:g.3193978G>A	NC_000020.10:g.3193978G>C
ITPA RefSeqGene	NG_012093.2:g.9466=	NG_012093.2:g.9466G>A	NG_012093.2:g.9466G>C
ITPA transcript variant 1	NM_033453.4:c.138=	NM_033453.4:c.138G>A	NM_033453.4:c.138G>C
ITPA transcript variant 1	NM_033453.3:c.138=	NM_033453.3:c.138G>A	NM_033453.3:c.138G>C
ITPA transcript variant 2	NM_181493.4:c.87=	NM_181493.4:c.87G>A	NM_181493.4:c.87G>C
ITPA transcript variant 2	NM_181493.3:c.87=	NM_181493.3:c.87G>A	NM_181493.3:c.87G>C
ITPA transcript variant 2	NM_181493.2:c.87=	NM_181493.2:c.87G>A	NM_181493.2:c.87G>C
ITPA transcript variant 9	NM_001324238.2:c.-200=	NM_001324238.2:c.-200G>A	NM_001324238.2:c.-200G>C
ITPA transcript variant 9	NM_001324238.1:c.-200=	NM_001324238.1:c.-200G>A	NM_001324238.1:c.-200G>C
ITPA transcript variant 8	NM_001324237.2:c.-200=	NM_001324237.2:c.-200G>A	NM_001324237.2:c.-200G>C
ITPA transcript variant 8	NM_001324237.1:c.-200=	NM_001324237.1:c.-200G>A	NM_001324237.1:c.-200G>C
ITPA transcript variant 10	NM_001324240.2:c.138=	NM_001324240.2:c.138G>A	NM_001324240.2:c.138G>C
ITPA transcript variant 10	NM_001324240.1:c.138=	NM_001324240.1:c.138G>A	NM_001324240.1:c.138G>C
ITPA transcript variant 7	NM_001324236.2:c.-200=	NM_001324236.2:c.-200G>A	NM_001324236.2:c.-200G>C
ITPA transcript variant 7	NM_001324236.1:c.-200=	NM_001324236.1:c.-200G>A	NM_001324236.1:c.-200G>C
ITPA transcript variant 5	NM_001351739.2:c.-200=	NM_001351739.2:c.-200G>A	NM_001351739.2:c.-200G>C
ITPA transcript variant 5	NM_001351739.1:c.-200=	NM_001351739.1:c.-200G>A	NM_001351739.1:c.-200G>C
ITPA transcript variant X2	XM_006723564.4:c.138=	XM_006723564.4:c.138G>A	XM_006723564.4:c.138G>C
ITPA transcript variant X1	XM_006723564.3:c.138=	XM_006723564.3:c.138G>A	XM_006723564.3:c.138G>C
ITPA transcript variant X1	XM_006723564.2:c.138=	XM_006723564.2:c.138G>A	XM_006723564.2:c.138G>C
ITPA transcript variant X1	XM_006723564.1:c.138=	XM_006723564.1:c.138G>A	XM_006723564.1:c.138G>C
ITPA transcript variant X5	XM_011529234.3:c.138=	XM_011529234.3:c.138G>A	XM_011529234.3:c.138G>C
ITPA transcript variant X3	XM_011529234.2:c.138=	XM_011529234.2:c.138G>A	XM_011529234.2:c.138G>C
ITPA transcript variant X3	XM_011529234.1:c.138=	XM_011529234.1:c.138G>A	XM_011529234.1:c.138G>C
ITPA transcript variant 5	NR_052001.2:n.251=	NR_052001.2:n.251G>A	NR_052001.2:n.251G>C
ITPA transcript variant X1	XM_047440139.1:c.264=	XM_047440139.1:c.264G>A	XM_047440139.1:c.264G>C
ITPA transcript variant X3	XM_047440140.1:c.264=	XM_047440140.1:c.264G>A	XM_047440140.1:c.264G>C
HLC14-06-P transcript	NM_025200.1:c.138=	NM_025200.1:c.138G>A	NM_025200.1:c.138G>C
ITPA transcript variant 5	NR_052001.1:n.123=	NR_052001.1:n.123G>A	NR_052001.1:n.123G>C
inosine triphosphate pyrophosphatase isoform a	NP_258412.1:p.Gln46=	NP_258412.1:p.Gln46=	NP_258412.1:p.Gln46His
inosine triphosphate pyrophosphatase isoform b	NP_852470.1:p.Gln29=	NP_852470.1:p.Gln29=	NP_852470.1:p.Gln29His
inosine triphosphate pyrophosphatase isoform e	NP_001311169.1:p.Gln46=	NP_001311169.1:p.Gln46=	NP_001311169.1:p.Gln46His
inosine triphosphate pyrophosphatase isoform X2	XP_006723627.1:p.Gln46=	XP_006723627.1:p.Gln46=	XP_006723627.1:p.Gln46His
inosine triphosphate pyrophosphatase isoform X5	XP_011527536.1:p.Gln46=	XP_011527536.1:p.Gln46=	XP_011527536.1:p.Gln46His
inosine triphosphate pyrophosphatase isoform X1	XP_047296095.1:p.Gln88=	XP_047296095.1:p.Gln88=	XP_047296095.1:p.Gln88His
inosine triphosphate pyrophosphatase isoform X3	XP_047296096.1:p.Gln88=	XP_047296096.1:p.Gln88=	XP_047296096.1:p.Gln88His
ITPA transcript variant 3	NM_001267623.1:c.67-653=	NM_001267623.1:c.67-653G>A	NM_001267623.1:c.67-653G>C
ITPA transcript variant 3	NM_001267623.2:c.67-653=	NM_001267623.2:c.67-653G>A	NM_001267623.2:c.67-653G>C
ITPA transcript variant X4	XM_006723565.4:c.67-653=	XM_006723565.4:c.67-653G>A	XM_006723565.4:c.67-653G>C

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#.

155 SubSNP, 29 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	LEE	ss1511914	Oct 13, 2000 (102)
2	LEE	ss4391115	May 29, 2002 (123)
3	LEE	ss4405457	May 29, 2002 (108)
4	SC_SNP	ss8364123	Apr 21, 2003 (123)
5	WI_SSAHASNP	ss12477184	Jul 11, 2003 (123)
6	CGAP-GAI	ss16260145	Feb 28, 2004 (123)
7	SSAHASNP	ss21776188	Apr 05, 2004 (123)
8	PERLEGEN	ss23499175	Sep 20, 2004 (123)
9	ABI	ss41367185	Mar 14, 2006 (126)
10	ILLUMINA	ss65734098	Oct 16, 2006 (127)
11	ILLUMINA	ss66628828	Dec 02, 2006 (127)
12	ILLUMINA	ss67878580	Dec 02, 2006 (127)
13	ILLUMINA	ss68020631	Dec 02, 2006 (127)
14	PERLEGEN	ss69233687	May 18, 2007 (127)
15	ILLUMINA	ss70973918	May 26, 2008 (130)
16	ILLUMINA	ss71585257	May 18, 2007 (127)
17	ILLUMINA	ss75438057	Dec 06, 2007 (129)
18	ILLUMINA	ss79283511	Dec 16, 2007 (130)
19	HGSV	ss80870768	Dec 16, 2007 (130)
20	KRIBB_YJKIM	ss83348458	Dec 16, 2007 (130)
21	HGSV	ss83924006	Dec 16, 2007 (130)
22	HGSV	ss84775029	Dec 16, 2007 (130)
23	HUMANGENOME_JCVI	ss96209633	Feb 06, 2009 (130)
24	BGI	ss106175447	Feb 06, 2009 (130)
25	1000GENOMES	ss115380323	Jan 25, 2009 (130)
26	ILLUMINA-UK	ss117461997	Feb 14, 2009 (130)
27	ILLUMINA	ss122914959	Dec 01, 2009 (131)
28	ENSEMBL	ss133044724	Dec 01, 2009 (131)
29	ILLUMINA	ss154472942	Dec 01, 2009 (131)
30	ILLUMINA	ss159647461	Dec 01, 2009 (131)
31	SEATTLESEQ	ss159741736	Dec 01, 2009 (131)
32	ILLUMINA	ss160956596	Dec 01, 2009 (131)
33	COMPLETE_GENOMICS	ss167690696	Jul 04, 2010 (132)
34	COMPLETE_GENOMICS	ss168905708	Jul 04, 2010 (132)
35	COMPLETE_GENOMICS	ss171834259	Jul 04, 2010 (132)
36	ILLUMINA	ss172407484	Jul 04, 2010 (132)
37	ILLUMINA	ss174743958	Jul 04, 2010 (132)
38	BUSHMAN	ss203812224	Jul 04, 2010 (132)
39	BCM-HGSC-SUB	ss208743742	Jul 04, 2010 (132)
40	1000GENOMES	ss228224677	Jul 14, 2010 (132)
41	1000GENOMES	ss237740035	Jul 15, 2010 (132)
42	1000GENOMES	ss243931379	Jul 15, 2010 (132)
43	GMI	ss283278587	May 04, 2012 (137)
44	GMI	ss287412856	Apr 25, 2013 (138)
45	PJP	ss292565728	May 09, 2011 (134)
46	NHLBI-ESP	ss342515149	May 09, 2011 (134)
47	ILLUMINA	ss481804500	May 04, 2012 (137)
48	ILLUMINA	ss481837034	May 04, 2012 (137)
49	ILLUMINA	ss482798512	Sep 08, 2015 (146)
50	ILLUMINA	ss485696963	May 04, 2012 (137)
51	1000GENOMES	ss491171457	May 04, 2012 (137)
52	CLINSEQ_SNP	ss491805255	May 04, 2012 (137)
53	ILLUMINA	ss537563496	Sep 08, 2015 (146)
54	TISHKOFF	ss566099655	Apr 25, 2013 (138)
55	SSMP	ss661969417	Apr 25, 2013 (138)
56	ILLUMINA	ss779000041	Sep 08, 2015 (146)
57	ILLUMINA	ss783294042	Sep 08, 2015 (146)
58	ILLUMINA	ss784246565	Sep 08, 2015 (146)
59	ILLUMINA	ss825614029	Apr 01, 2015 (144)
60	ILLUMINA	ss832555329	Sep 08, 2015 (146)
61	ILLUMINA	ss833158287	Jul 13, 2019 (153)
62	ILLUMINA	ss834462392	Sep 08, 2015 (146)
63	JMKIDD_LAB	ss974508718	Aug 21, 2014 (142)
64	EVA-GONL	ss994482442	Aug 21, 2014 (142)
65	JMKIDD_LAB	ss1067595790	Aug 21, 2014 (142)
66	JMKIDD_LAB	ss1082028494	Aug 21, 2014 (142)
67	1000GENOMES	ss1363858255	Aug 21, 2014 (142)
68	HAMMER_LAB	ss1397761659	Sep 08, 2015 (146)
69	DDI	ss1428978816	Apr 01, 2015 (144)
70	EVA_GENOME_DK	ss1579413143	Apr 01, 2015 (144)
71	EVA_FINRISK	ss1584121405	Apr 01, 2015 (144)
72	EVA_UK10K_ALSPAC	ss1638299825	Apr 01, 2015 (144)
73	EVA_UK10K_TWINSUK	ss1681293858	Apr 01, 2015 (144)
74	EVA_EXAC	ss1693884955	Apr 01, 2015 (144)
75	EVA_DECODE	ss1698536746	Apr 01, 2015 (144)
76	EVA_MGP	ss1711532062	Apr 01, 2015 (144)
77	EVA_SVP	ss1713674686	Apr 01, 2015 (144)
78	ILLUMINA	ss1752383260	Sep 08, 2015 (146)
79	HAMMER_LAB	ss1809396275	Sep 08, 2015 (146)
80	WEILL_CORNELL_DGM	ss1937991374	Feb 12, 2016 (147)
81	GENOMED	ss1969077131	Jul 19, 2016 (147)
82	JJLAB	ss2029772457	Sep 14, 2016 (149)
83	USC_VALOUEV	ss2158326477	Dec 20, 2016 (150)
84	HUMAN_LONGEVITY	ss2240900333	Dec 20, 2016 (150)
85	SYSTEMSBIOZJU	ss2629383836	Nov 08, 2017 (151)
86	ILLUMINA	ss2633769133	Nov 08, 2017 (151)
87	GRF	ss2703998128	Nov 08, 2017 (151)
88	GNOMAD	ss2744435034	Nov 08, 2017 (151)
89	GNOMAD	ss2750330020	Nov 08, 2017 (151)
90	GNOMAD	ss2964857661	Nov 08, 2017 (151)
91	AFFY	ss2985207992	Nov 08, 2017 (151)
92	AFFY	ss2985828656	Nov 08, 2017 (151)
93	SWEGEN	ss3017782674	Nov 08, 2017 (151)
94	BIOINF_KMB_FNS_UNIBA	ss3028718194	Nov 08, 2017 (151)
95	CSHL	ss3352392314	Nov 08, 2017 (151)
96	ILLUMINA	ss3628337517	Oct 12, 2018 (152)
97	ILLUMINA	ss3631727305	Oct 12, 2018 (152)
98	ILLUMINA	ss3633242072	Oct 12, 2018 (152)
99	ILLUMINA	ss3633955766	Oct 12, 2018 (152)
100	ILLUMINA	ss3634823626	Oct 12, 2018 (152)
101	ILLUMINA	ss3635641036	Oct 12, 2018 (152)
102	ILLUMINA	ss3636513426	Oct 12, 2018 (152)
103	ILLUMINA	ss3637393095	Oct 12, 2018 (152)
104	ILLUMINA	ss3638331305	Oct 12, 2018 (152)
105	ILLUMINA	ss3639169148	Oct 12, 2018 (152)
106	ILLUMINA	ss3639598518	Oct 12, 2018 (152)
107	ILLUMINA	ss3640530924	Oct 12, 2018 (152)
108	ILLUMINA	ss3643295105	Oct 12, 2018 (152)
109	OMUKHERJEE_ADBS	ss3646545566	Oct 12, 2018 (152)
110	URBANLAB	ss3650958766	Oct 12, 2018 (152)
111	ILLUMINA	ss3653976219	Oct 12, 2018 (152)
112	EGCUT_WGS	ss3684496233	Jul 13, 2019 (153)
113	EVA_DECODE	ss3706453353	Jul 13, 2019 (153)
114	ACPOP	ss3743200987	Jul 13, 2019 (153)
115	ILLUMINA	ss3745123517	Jul 13, 2019 (153)
116	EVA	ss3758356794	Jul 13, 2019 (153)
117	ILLUMINA	ss3772619819	Jul 13, 2019 (153)
118	KHV_HUMAN_GENOMES	ss3821528430	Jul 13, 2019 (153)
119	EVA	ss3825346756	Apr 27, 2020 (154)
120	EVA	ss3825947526	Apr 27, 2020 (154)
121	EVA	ss3835558653	Apr 27, 2020 (154)
122	HGDP	ss3847658522	Apr 27, 2020 (154)
123	SGDP_PRJ	ss3888621115	Apr 27, 2020 (154)
124	KRGDB	ss3938801867	Apr 27, 2020 (154)
125	KOGIC	ss3981725940	Apr 27, 2020 (154)
126	FSA-LAB	ss3984211402	Apr 27, 2021 (155)
127	EVA	ss3985863590	Apr 27, 2021 (155)
128	EVA	ss3986083186	Apr 27, 2021 (155)
129	EVA	ss3986821527	Apr 27, 2021 (155)
130	EVA	ss4017834563	Apr 27, 2021 (155)
131	TOPMED	ss5080503868	Apr 27, 2021 (155)
132	TOMMO_GENOMICS	ss5228610073	Apr 27, 2021 (155)
133	EVA	ss5236981288	Apr 27, 2021 (155)
134	EVA	ss5237673972	Oct 13, 2022 (156)
135	1000G_HIGH_COVERAGE	ss5307903036	Oct 13, 2022 (156)
136	TRAN_CS_UWATERLOO	ss5314454798	Oct 13, 2022 (156)
137	EVA	ss5315989633	Oct 13, 2022 (156)
138	EVA	ss5435928619	Oct 13, 2022 (156)
139	HUGCELL_USP	ss5500321111	Oct 13, 2022 (156)
140	1000G_HIGH_COVERAGE	ss5613896193	Oct 13, 2022 (156)
141	EVA	ss5624111319	Oct 13, 2022 (156)
142	SANFORD_IMAGENETICS	ss5662758742	Oct 13, 2022 (156)
143	TOMMO_GENOMICS	ss5787532980	Oct 13, 2022 (156)
144	TOMMO_GENOMICS	ss5787532981	Oct 13, 2022 (156)
145	EVA	ss5799404807	Oct 13, 2022 (156)
146	EVA	ss5800014227	Oct 13, 2022 (156)
147	EVA	ss5800074123	Oct 13, 2022 (156)
148	EVA	ss5800227804	Oct 13, 2022 (156)
149	YY_MCH	ss5817769523	Oct 13, 2022 (156)
150	EVA	ss5845370699	Oct 13, 2022 (156)
151	EVA	ss5848542676	Oct 13, 2022 (156)
152	EVA	ss5853044849	Oct 13, 2022 (156)
153	EVA	ss5922465491	Oct 13, 2022 (156)
154	EVA	ss5936576352	Oct 13, 2022 (156)
155	EVA	ss5957656559	Oct 13, 2022 (156)
156	1000Genomes	NC_000020.10 - 3193978	Oct 12, 2018 (152)
157	1000Genomes_30x	NC_000020.11 - 3213332	Oct 13, 2022 (156)
158	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 3193978	Oct 12, 2018 (152)
159	Genome-wide autozygosity in Daghestan	NC_000020.9 - 3141978	Apr 27, 2020 (154)
160	Genetic variation in the Estonian population	NC_000020.10 - 3193978	Oct 12, 2018 (152)
161	ExAC	NC_000020.10 - 3193978	Oct 12, 2018 (152)
162	FINRISK	NC_000020.10 - 3193978	Apr 27, 2020 (154)
163	The Danish reference pan genome	NC_000020.10 - 3193978	Apr 27, 2020 (154)
164	gnomAD - Genomes	NC_000020.11 - 3213332	Apr 27, 2021 (155)
165	gnomAD - Exomes	NC_000020.10 - 3193978	Jul 13, 2019 (153)
166	GO Exome Sequencing Project	NC_000020.10 - 3193978	Oct 12, 2018 (152)
167	Genome of the Netherlands Release 5	NC_000020.10 - 3193978	Apr 27, 2020 (154)
168	HGDP-CEPH-db Supplement 1	NC_000020.9 - 3141978	Apr 27, 2020 (154)
169	HapMap	NC_000020.11 - 3213332	Apr 27, 2020 (154)
170	KOREAN population from KRGDB	NC_000020.10 - 3193978	Apr 27, 2020 (154)
171	Korean Genome Project	NC_000020.11 - 3213332	Apr 27, 2020 (154)
172	Medical Genome Project healthy controls from Spanish population	NC_000020.10 - 3193978	Apr 27, 2020 (154)
173	Northern Sweden	NC_000020.10 - 3193978	Jul 13, 2019 (153)
174	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000020.10 - 3193978	Apr 27, 2021 (155)
175	Qatari	NC_000020.10 - 3193978	Apr 27, 2020 (154)
176	SGDP_PRJ	NC_000020.10 - 3193978	Apr 27, 2020 (154)
177	Siberian	NC_000020.10 - 3193978	Apr 27, 2020 (154)
178	8.3KJPN	NC_000020.10 - 3193978	Apr 27, 2021 (155)
179	14KJPN Submission ignored due to conflicting rows: Row 121370084 (NC_000020.11:3213331:G:A 17248/28258) Row 121370085 (NC_000020.11:3213331:G:C 1/28258)	-	Oct 13, 2022 (156)
180	14KJPN Submission ignored due to conflicting rows: Row 121370084 (NC_000020.11:3213331:G:A 17248/28258) Row 121370085 (NC_000020.11:3213331:G:C 1/28258)	-	Oct 13, 2022 (156)
181	TopMed	NC_000020.11 - 3213332	Apr 27, 2021 (155)
182	UK 10K study - Twins	NC_000020.10 - 3193978	Oct 12, 2018 (152)
183	A Vietnamese Genetic Variation Database	NC_000020.10 - 3193978	Jul 13, 2019 (153)
184	ALFA	NC_000020.11 - 3213332	Apr 27, 2021 (155)
185	ClinVar	RCV001522154.4	Oct 13, 2022 (156)
186	ClinVar	RCV001685414.1	Oct 13, 2022 (156)
187	ClinVar	RCV001730816.2	Oct 13, 2022 (156)
188	ClinVar	RCV001806218.1	Oct 13, 2022 (156)

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)
rs1127355	Jan 04, 2002 (102)
rs3177088	Oct 07, 2004 (123)
rs3183217	Oct 08, 2002 (108)
rs11555601	Sep 24, 2004 (123)
rs16988350	Oct 07, 2004 (123)
rs61052478	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
275865, 336414, ss80870768, ss83924006, ss84775029, ss115380323, ss117461997, ss167690696, ss168905708, ss171834259, ss203812224, ss208743742, ss283278587, ss287412856, ss292565728, ss481804500, ss491805255, ss825614029, ss1397761659, ss1698536746, ss1713674686, ss3639169148, ss3639598518, ss3643295105, ss3847658522	NC_000020.9:3141977:G:A	NC_000020.11:3213331:G:A	(self)
77290334, 42781298, 30234481, 5431367, 117866, 5578082, 13752797, 1803686, 19062170, 45979261, 647822, 16485852, 1089517, 20033296, 40638095, 10842831, 86579380, 42781298, 9444154, ss228224677, ss237740035, ss243931379, ss342515149, ss481837034, ss482798512, ss485696963, ss491171457, ss537563496, ss566099655, ss661969417, ss779000041, ss783294042, ss784246565, ss832555329, ss833158287, ss834462392, ss974508718, ss994482442, ss1067595790, ss1082028494, ss1363858255, ss1428978816, ss1579413143, ss1584121405, ss1638299825, ss1681293858, ss1693884955, ss1711532062, ss1752383260, ss1809396275, ss1937991374, ss1969077131, ss2029772457, ss2158326477, ss2629383836, ss2633769133, ss2703998128, ss2744435034, ss2750330020, ss2964857661, ss2985207992, ss2985828656, ss3017782674, ss3352392314, ss3628337517, ss3631727305, ss3633242072, ss3633955766, ss3634823626, ss3635641036, ss3636513426, ss3637393095, ss3638331305, ss3640530924, ss3646545566, ss3653976219, ss3684496233, ss3743200987, ss3745123517, ss3758356794, ss3772619819, ss3825346756, ss3825947526, ss3835558653, ss3888621115, ss3938801867, ss3984211402, ss3985863590, ss3986083186, ss3986821527, ss4017834563, ss5228610073, ss5315989633, ss5435928619, ss5624111319, ss5662758742, ss5799404807, ss5800014227, ss5800074123, ss5800227804, ss5845370699, ss5848542676, ss5936576352, ss5957656559	NC_000020.10:3193977:G:A	NC_000020.11:3213331:G:A	(self)
RCV001522154.4, RCV001685414.1, RCV001730816.2, RCV001806218.1, 101422128, 545023556, 2054284, 38103941, 355612813, 5989267400, ss2240900333, ss3028718194, ss3650958766, ss3706453353, ss3821528430, ss3981725940, ss5080503868, ss5236981288, ss5237673972, ss5307903036, ss5314454798, ss5500321111, ss5613896193, ss5787532980, ss5817769523, ss5853044849, ss5922465491	NC_000020.11:3213331:G:A	NC_000020.11:3213331:G:A	(self)
ss1511914, ss4391115, ss4405457, ss8364123, ss12477184, ss16260145, ss21776188, ss23499175, ss41367185, ss65734098, ss66628828, ss67878580, ss68020631, ss69233687, ss70973918, ss71585257, ss75438057, ss79283511, ss83348458, ss96209633, ss106175447, ss122914959, ss133044724, ss154472942, ss159647461, ss159741736, ss160956596, ss172407484, ss174743958	NT_011387.8:3133977:G:A	NC_000020.11:3213331:G:A	(self)
ss5787532981	NC_000020.11:3213331:G:C	NC_000020.11:3213331:G:C

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

3 citations for rs8362

PMID	Title	Author	Year	Journal
23029095	Pharmacogenetic analysis of pediatric patients with acute lymphoblastic leukemia: a possible association between survival rate and ITPA polymorphism.	Kim H et al.	2012	PloS one
26332308	Impact of Genetic Polymorphisms on 6-Thioguanine Nucleotide Levels and Toxicity in Pediatric Patients with IBD Treated with Azathioprine.	Lee MN et al.	2015	Inflammatory bowel diseases
27081565	Identification of ITPA on chromosome 20 as a susceptibility gene for young-onset tuberculosis.	Nakauchi A et al.	2016	Human genome variation

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs8362