Name: rs2229089
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.

rs2229089

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:14173024 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: G>A / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.025085 (6931/276300, ALFA)
A=0.017488 (4629/264690, TOPMED)
A=0.021511 (5095/236852, GnomAD_exome) (+ 23 more)
A=0.021768 (3052/140206, GnomAD)
A=0.00886 (697/78702, PAGE_STUDY)
A=0.02954 (2309/78168, ExAC)
A=0.02130 (255/11972, GO-ESP)
A=0.0111 (71/6404, 1000G_30x)
A=0.0100 (50/5008, 1000G)
A=0.0375 (168/4480, Estonian)
A=0.0327 (126/3854, ALSPAC)
A=0.0329 (122/3708, TWINSUK)
A=0.0091 (30/3302, PRJNA289433)
A=0.0319 (34/1066, Daghestan)
A=0.032 (32/998, GoNL)
A=0.012 (12/980, HapMap)
A=0.001 (1/792, PRJEB37584)
A=0.027 (16/600, NorthernSweden)
A=0.019 (10/534, MGP)
A=0.059 (18/304, FINRISK)
A=0.014 (3/216, Qatari)
A=0.03 (1/40, GENOME_DK)
G=0.5 (3/6, SGDP_PRJ)
A=0.5 (3/6, SGDP_PRJ)
G=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: XPC : 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	292800	G=0.975181	A=0.024819, T=0.000000
European	Sub	248128	G=0.972897	A=0.027103, T=0.000000
African	Sub	10658	G=0.99550	A=0.00450, T=0.00000
African Others	Sub	378	G=0.997	A=0.003, T=0.000
African American	Sub	10280	G=0.99543	A=0.00457, T=0.00000
Asian	Sub	6720	G=0.9999	A=0.0001, T=0.0000
East Asian	Sub	4834	G=1.0000	A=0.0000, T=0.0000
Other Asian	Sub	1886	G=0.9995	A=0.0005, T=0.0000
Latin American 1	Sub	926	G=0.986	A=0.014, T=0.000
Latin American 2	Sub	5322	G=0.9904	A=0.0096, T=0.0000
South Asian	Sub	330	G=0.988	A=0.012, T=0.000
Other	Sub	20716	G=0.97948	A=0.02052, T=0.00000

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
Allele Frequency Aggregator	Total	Global	276300	G=0.974915	A=0.025085, T=0.000000
Allele Frequency Aggregator	European	Sub	237918	G=0.972869	A=0.027131, T=0.000000
Allele Frequency Aggregator	Other	Sub	19264	G=0.98017	A=0.01983, T=0.00000
Allele Frequency Aggregator	Asian	Sub	6720	G=0.9999	A=0.0001, T=0.0000
Allele Frequency Aggregator	African	Sub	5820	G=0.9957	A=0.0043, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	5322	G=0.9904	A=0.0096, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	926	G=0.986	A=0.014, T=0.000
Allele Frequency Aggregator	South Asian	Sub	330	G=0.988	A=0.012, T=0.000
TopMed	Global	Study-wide	264690	G=0.982512	A=0.017488
gnomAD - Exomes	Global	Study-wide	236852	G=0.978489	A=0.021511
gnomAD - Exomes	European	Sub	127600	G=0.967437	A=0.032563
gnomAD - Exomes	Asian	Sub	46196	G=0.99110	A=0.00890
gnomAD - Exomes	American	Sub	32768	G=0.99106	A=0.00894
gnomAD - Exomes	African	Sub	14828	G=0.99562	A=0.00438
gnomAD - Exomes	Ashkenazi Jewish	Sub	9676	G=0.9946	A=0.0054
gnomAD - Exomes	Other	Sub	5784	G=0.9794	A=0.0206
gnomAD - Genomes	Global	Study-wide	140206	G=0.978232	A=0.021768
gnomAD - Genomes	European	Sub	75908	G=0.96670	A=0.03330
gnomAD - Genomes	African	Sub	42038	G=0.99481	A=0.00519
gnomAD - Genomes	American	Sub	13654	G=0.98235	A=0.01765
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.9943	A=0.0057
gnomAD - Genomes	East Asian	Sub	3134	G=0.9987	A=0.0013
gnomAD - Genomes	Other	Sub	2150	G=0.9805	A=0.0195
The PAGE Study	Global	Study-wide	78702	G=0.99114	A=0.00886
The PAGE Study	AfricanAmerican	Sub	32516	G=0.99357	A=0.00643
The PAGE Study	Mexican	Sub	10810	G=0.99103	A=0.00897
The PAGE Study	Asian	Sub	8318	G=0.9998	A=0.0002
The PAGE Study	PuertoRican	Sub	7918	G=0.9784	A=0.0216
The PAGE Study	NativeHawaiian	Sub	4534	G=0.9912	A=0.0088
The PAGE Study	Cuban	Sub	4230	G=0.9827	A=0.0173
The PAGE Study	Dominican	Sub	3828	G=0.9909	A=0.0091
The PAGE Study	CentralAmerican	Sub	2450	G=0.9943	A=0.0057
The PAGE Study	SouthAmerican	Sub	1982	G=0.9899	A=0.0101
The PAGE Study	NativeAmerican	Sub	1260	G=0.9794	A=0.0206
The PAGE Study	SouthAsian	Sub	856	G=0.988	A=0.012
ExAC	Global	Study-wide	78168	G=0.97046	A=0.02954
ExAC	Europe	Sub	47654	G=0.95916	A=0.04084
ExAC	Asian	Sub	16608	G=0.98675	A=0.01325
ExAC	African	Sub	7166	G=0.9940	A=0.0060
ExAC	American	Sub	6114	G=0.9879	A=0.0121
ExAC	Other	Sub	626	G=0.958	A=0.042
GO Exome Sequencing Project	Global	Study-wide	11972	G=0.97870	A=0.02130
GO Exome Sequencing Project	European American	Sub	8216	G=0.9713	A=0.0287
GO Exome Sequencing Project	African American	Sub	3756	G=0.9949	A=0.0051
1000Genomes_30x	Global	Study-wide	6404	G=0.9889	A=0.0111
1000Genomes_30x	African	Sub	1786	G=0.9989	A=0.0011
1000Genomes_30x	Europe	Sub	1266	G=0.9747	A=0.0253
1000Genomes_30x	South Asian	Sub	1202	G=0.9884	A=0.0116
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	A=0.0000
1000Genomes_30x	American	Sub	980	G=0.977	A=0.023
1000Genomes	Global	Study-wide	5008	G=0.9900	A=0.0100
1000Genomes	African	Sub	1322	G=0.9992	A=0.0008
1000Genomes	East Asian	Sub	1008	G=1.0000	A=0.0000
1000Genomes	Europe	Sub	1006	G=0.9781	A=0.0219
1000Genomes	South Asian	Sub	978	G=0.988	A=0.012
1000Genomes	American	Sub	694	G=0.978	A=0.022
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9625	A=0.0375
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9673	A=0.0327
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9671	A=0.0329
MxGDAR/Encodat-PGx	Global	Study-wide	3302	G=0.9909	A=0.0091
MxGDAR/Encodat-PGx	MxGDAR	Sub	3302	G=0.9909	A=0.0091
Genome-wide autozygosity in Daghestan	Global	Study-wide	1066	G=0.9681	A=0.0319
Genome-wide autozygosity in Daghestan	Daghestan	Sub	580	G=0.955	A=0.045
Genome-wide autozygosity in Daghestan	Near_East	Sub	138	G=0.986	A=0.014
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.992	A=0.008
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	G=0.99	A=0.01
Genome-wide autozygosity in Daghestan	Europe	Sub	94	G=0.96	A=0.04
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=1.00	A=0.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.968	A=0.032
HapMap	Global	Study-wide	980	G=0.988	A=0.012
HapMap	American	Sub	600	G=0.985	A=0.015
HapMap	Europe	Sub	174	G=0.983	A=0.017
HapMap	African	Sub	118	G=1.000	A=0.000
HapMap	Asian	Sub	88	G=1.00	A=0.00
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.999	A=0.001
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.999	A=0.001
Northern Sweden	ACPOP	Study-wide	600	G=0.973	A=0.027
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.981	A=0.019
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.941	A=0.059
Qatari	Global	Study-wide	216	G=0.986	A=0.014
The Danish reference pan genome	Danish	Study-wide	40	G=0.97	A=0.03
SGDP_PRJ	Global	Study-wide	6	G=0.5	A=0.5
Siberian	Global	Study-wide	2	G=0.5	A=0.5

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 3	NC_000003.12:g.14173024G>A
GRCh38.p14 chr 3	NC_000003.12:g.14173024G>T
GRCh37.p13 chr 3	NC_000003.11:g.14214524G>A
GRCh37.p13 chr 3	NC_000003.11:g.14214524G>T
XPC RefSeqGene (LRG_472)	NG_011763.1:g.10649C>T
XPC RefSeqGene (LRG_472)	NG_011763.1:g.10649C>A

Gene: XPC, XPC complex subunit, DNA damage recognition and repair factor (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
XPC transcript variant 3	NM_001354726.2:c.-314=	N/A	5 Prime UTR Variant
XPC transcript variant 4	NM_001354727.2:c.142C>T	L [CTC] > F [TTC]	Coding Sequence Variant
DNA repair protein complementing XP-C cells isoform 4	NP_001341656.1:p.Leu48Phe	L (Leu) > F (Phe)	Missense Variant
XPC transcript variant 4	NM_001354727.2:c.142C>A	L [CTC] > I [ATC]	Coding Sequence Variant
DNA repair protein complementing XP-C cells isoform 4	NP_001341656.1:p.Leu48Ile	L (Leu) > I (Ile)	Missense Variant
XPC transcript variant 1	NM_004628.5:c.142C>T	L [CTC] > F [TTC]	Coding Sequence Variant
DNA repair protein complementing XP-C cells isoform 1	NP_004619.3:p.Leu48Phe	L (Leu) > F (Phe)	Missense Variant
XPC transcript variant 1	NM_004628.5:c.142C>A	L [CTC] > I [ATC]	Coding Sequence Variant
DNA repair protein complementing XP-C cells isoform 1	NP_004619.3:p.Leu48Ile	L (Leu) > I (Ile)	Missense Variant
XPC transcript variant 5	NM_001354729.2:c.124C>T	L [CTC] > F [TTC]	Coding Sequence Variant
DNA repair protein complementing XP-C cells isoform 5	NP_001341658.1:p.Leu42Phe	L (Leu) > F (Phe)	Missense Variant
XPC transcript variant 5	NM_001354729.2:c.124C>A	L [CTC] > I [ATC]	Coding Sequence Variant
DNA repair protein complementing XP-C cells isoform 5	NP_001341658.1:p.Leu42Ile	L (Leu) > I (Ile)	Missense Variant
XPC transcript variant 6	NM_001354730.2:c.142C>T	L [CTC] > F [TTC]	Coding Sequence Variant
DNA repair protein complementing XP-C cells isoform 6	NP_001341659.1:p.Leu48Phe	L (Leu) > F (Phe)	Missense Variant
XPC transcript variant 6	NM_001354730.2:c.142C>A	L [CTC] > I [ATC]	Coding Sequence Variant
DNA repair protein complementing XP-C cells isoform 6	NP_001341659.1:p.Leu48Ile	L (Leu) > I (Ile)	Missense Variant
XPC transcript variant 7	NR_148950.2:n.175C>T	N/A	Non Coding Transcript Variant
XPC transcript variant 7	NR_148950.2:n.175C>A	N/A	Non Coding Transcript Variant
XPC transcript variant 8	NR_148951.2:n.175C>T	N/A	Non Coding Transcript Variant
XPC transcript variant 8	NR_148951.2:n.175C>A	N/A	Non Coding Transcript Variant
XPC transcript variant X1	XM_047448864.1:c.142C>T	L [CTC] > F [TTC]	Coding Sequence Variant
DNA repair protein complementing XP-C cells isoform X1	XP_047304820.1:p.Leu48Phe	L (Leu) > F (Phe)	Missense Variant
XPC transcript variant X1	XM_047448864.1:c.142C>A	L [CTC] > I [ATC]	Coding Sequence Variant
DNA repair protein complementing XP-C cells isoform X1	XP_047304820.1:p.Leu48Ile	L (Leu) > I (Ile)	Missense Variant
XPC transcript variant X2	XM_047448865.1:c.142C>T	L [CTC] > F [TTC]	Coding Sequence Variant
DNA repair protein complementing XP-C cells isoform X2	XP_047304821.1:p.Leu48Phe	L (Leu) > F (Phe)	Missense Variant
XPC transcript variant X2	XM_047448865.1:c.142C>A	L [CTC] > I [ATC]	Coding Sequence Variant
DNA repair protein complementing XP-C cells isoform X2	XP_047304821.1:p.Leu48Ile	L (Leu) > I (Ile)	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: 139214 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000122333.3	not specified	Likely-Benign
RCV000348650.4	Xeroderma pigmentosum, group C	Benign
RCV001521210.7	not provided	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	T
GRCh38.p14 chr 3	NC_000003.12:g.14173024=	NC_000003.12:g.14173024G>A	NC_000003.12:g.14173024G>T
GRCh37.p13 chr 3	NC_000003.11:g.14214524=	NC_000003.11:g.14214524G>A	NC_000003.11:g.14214524G>T
XPC RefSeqGene (LRG_472)	NG_011763.1:g.10649=	NG_011763.1:g.10649C>T	NG_011763.1:g.10649C>A
XPC transcript variant 1	NM_004628.5:c.142=	NM_004628.5:c.142C>T	NM_004628.5:c.142C>A
XPC transcript variant 1	NM_004628.4:c.142=	NM_004628.4:c.142C>T	NM_004628.4:c.142C>A
XPC transcript variant 4	NM_001354727.2:c.142=	NM_001354727.2:c.142C>T	NM_001354727.2:c.142C>A
XPC transcript variant 4	NM_001354727.1:c.142=	NM_001354727.1:c.142C>T	NM_001354727.1:c.142C>A
XPC transcript variant 5	NM_001354729.2:c.124=	NM_001354729.2:c.124C>T	NM_001354729.2:c.124C>A
XPC transcript variant 5	NM_001354729.1:c.124=	NM_001354729.1:c.124C>T	NM_001354729.1:c.124C>A
XPC transcript variant 3	NM_001354726.2:c.-314=	NM_001354726.2:c.-314C>T	NM_001354726.2:c.-314C>A
XPC transcript variant 3	NM_001354726.1:c.-314=	NM_001354726.1:c.-314C>T	NM_001354726.1:c.-314C>A
XPC transcript variant 7	NR_148950.2:n.175=	NR_148950.2:n.175C>T	NR_148950.2:n.175C>A
XPC transcript variant 7	NR_148950.1:n.246=	NR_148950.1:n.246C>T	NR_148950.1:n.246C>A
XPC transcript variant 6	NM_001354730.2:c.142=	NM_001354730.2:c.142C>T	NM_001354730.2:c.142C>A
XPC transcript variant 6	NM_001354730.1:c.142=	NM_001354730.1:c.142C>T	NM_001354730.1:c.142C>A
XPC transcript variant 8	NR_148951.2:n.175=	NR_148951.2:n.175C>T	NR_148951.2:n.175C>A
XPC transcript variant 8	NR_148951.1:n.246=	NR_148951.1:n.246C>T	NR_148951.1:n.246C>A
XPC transcript variant 2	NM_001145769.1:c.142=	NM_001145769.1:c.142C>T	NM_001145769.1:c.142C>A
XPC transcript variant 3	NR_027299.1:n.246=	NR_027299.1:n.246C>T	NR_027299.1:n.246C>A
XPC transcript variant X1	XM_047448864.1:c.142=	XM_047448864.1:c.142C>T	XM_047448864.1:c.142C>A
XPC transcript variant X2	XM_047448865.1:c.142=	XM_047448865.1:c.142C>T	XM_047448865.1:c.142C>A
DNA repair protein complementing XP-C cells isoform 1	NP_004619.3:p.Leu48=	NP_004619.3:p.Leu48Phe	NP_004619.3:p.Leu48Ile
DNA repair protein complementing XP-C cells isoform 4	NP_001341656.1:p.Leu48=	NP_001341656.1:p.Leu48Phe	NP_001341656.1:p.Leu48Ile
DNA repair protein complementing XP-C cells isoform 5	NP_001341658.1:p.Leu42=	NP_001341658.1:p.Leu42Phe	NP_001341658.1:p.Leu42Ile
DNA repair protein complementing XP-C cells isoform 6	NP_001341659.1:p.Leu48=	NP_001341659.1:p.Leu48Phe	NP_001341659.1:p.Leu48Ile
DNA repair protein complementing XP-C cells isoform X1	XP_047304820.1:p.Leu48=	XP_047304820.1:p.Leu48Phe	XP_047304820.1:p.Leu48Ile
DNA repair protein complementing XP-C cells isoform X2	XP_047304821.1:p.Leu48=	XP_047304821.1:p.Leu48Phe	XP_047304821.1:p.Leu48Ile
DNA repair protein complementing XP-C cells isoform 2	NP_001139241.1:p.Leu48=	NP_001139241.1:p.Leu48Phe	NP_001139241.1:p.Leu48Ile

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#.

113 SubSNP, 24 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	EGP_SNPS	ss4917044	Aug 28, 2002 (137)
2	PERLEGEN	ss68853593	May 18, 2007 (137)
3	AFFY	ss74809320	Aug 16, 2007 (137)
4	ILLUMINA	ss75154346	Dec 07, 2007 (137)
5	AFFY	ss76755879	Dec 07, 2007 (137)
6	CGM_KYOTO	ss76864612	Dec 07, 2007 (137)
7	KRIBB_YJKIM	ss104887032	Feb 04, 2009 (137)
8	ILLUMINA	ss160631930	Dec 01, 2009 (137)
9	ILLUMINA	ss173612388	Jul 04, 2010 (137)
10	BCM-HGSC-SUB	ss206066357	Jul 04, 2010 (137)
11	1000GENOMES	ss231716420	Jul 14, 2010 (137)
12	ILLUMINA	ss480801261	May 04, 2012 (137)
13	ILLUMINA	ss480816990	May 04, 2012 (137)
14	ILLUMINA	ss481742619	Sep 08, 2015 (146)
15	ILLUMINA	ss485195403	May 04, 2012 (137)
16	1000GENOMES	ss489866594	May 04, 2012 (137)
17	EXOME_CHIP	ss491336000	May 04, 2012 (137)
18	CLINSEQ_SNP	ss491829641	May 04, 2012 (137)
19	ILLUMINA	ss537184257	Sep 08, 2015 (146)
20	NHLBI-ESP	ss712502246	Apr 25, 2013 (138)
21	ILLUMINA	ss778520891	Sep 08, 2015 (146)
22	ILLUMINA	ss780813798	Sep 08, 2015 (146)
23	ILLUMINA	ss783043753	Sep 08, 2015 (146)
24	ILLUMINA	ss783495874	Sep 08, 2015 (146)
25	ILLUMINA	ss784002864	Sep 08, 2015 (146)
26	ILLUMINA	ss832301517	Sep 08, 2015 (146)
27	ILLUMINA	ss833977298	Sep 08, 2015 (146)
28	EVA-GONL	ss978294789	Aug 21, 2014 (142)
29	1000GENOMES	ss1302889746	Aug 21, 2014 (142)
30	HAMMER_LAB	ss1397330109	Sep 08, 2015 (146)
31	CLINVAR	ss1457610989	Nov 23, 2014 (142)
32	EVA_GENOME_DK	ss1579853790	Apr 01, 2015 (144)
33	EVA_FINRISK	ss1584026050	Apr 01, 2015 (144)
34	EVA_DECODE	ss1587756610	Apr 01, 2015 (144)
35	EVA_UK10K_ALSPAC	ss1606461352	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1649455385	Apr 01, 2015 (144)
37	EVA_EXAC	ss1686883073	Apr 01, 2015 (144)
38	EVA_MGP	ss1711008397	Apr 01, 2015 (144)
39	EVA_SVP	ss1712555534	Apr 01, 2015 (144)
40	ILLUMINA	ss1752443683	Sep 08, 2015 (146)
41	ILLUMINA	ss1752443684	Sep 08, 2015 (146)
42	ILLUMINA	ss1917763661	Feb 12, 2016 (147)
43	WEILL_CORNELL_DGM	ss1921547562	Feb 12, 2016 (147)
44	ILLUMINA	ss1946075293	Feb 12, 2016 (147)
45	ILLUMINA	ss1958539557	Feb 12, 2016 (147)
46	JJLAB	ss2021327303	Sep 14, 2016 (149)
47	USC_VALOUEV	ss2149395304	Dec 20, 2016 (150)
48	HUMAN_LONGEVITY	ss2249250886	Dec 20, 2016 (150)
49	ILLUMINA	ss2633914703	Nov 08, 2017 (151)
50	ILLUMINA	ss2635115865	Nov 08, 2017 (151)
51	ILLUMINA	ss2710965689	Nov 08, 2017 (151)
52	GNOMAD	ss2733562545	Nov 08, 2017 (151)
53	GNOMAD	ss2746952512	Nov 08, 2017 (151)
54	GNOMAD	ss2789774847	Nov 08, 2017 (151)
55	AFFY	ss2985247830	Nov 08, 2017 (151)
56	AFFY	ss2985869306	Nov 08, 2017 (151)
57	SWEGEN	ss2991864445	Nov 08, 2017 (151)
58	ILLUMINA	ss3022214183	Nov 08, 2017 (151)
59	CSHL	ss3344895522	Nov 08, 2017 (151)
60	ILLUMINA	ss3628595727	Oct 11, 2018 (152)
61	ILLUMINA	ss3628595728	Oct 11, 2018 (152)
62	ILLUMINA	ss3631863043	Oct 11, 2018 (152)
63	ILLUMINA	ss3633282980	Oct 11, 2018 (152)
64	ILLUMINA	ss3633999518	Oct 11, 2018 (152)
65	ILLUMINA	ss3634881658	Oct 11, 2018 (152)
66	ILLUMINA	ss3634881659	Oct 11, 2018 (152)
67	ILLUMINA	ss3635683690	Oct 11, 2018 (152)
68	ILLUMINA	ss3636577784	Oct 11, 2018 (152)
69	ILLUMINA	ss3637435996	Oct 11, 2018 (152)
70	ILLUMINA	ss3638398568	Oct 11, 2018 (152)
71	ILLUMINA	ss3640588961	Oct 11, 2018 (152)
72	ILLUMINA	ss3640588962	Oct 11, 2018 (152)
73	ILLUMINA	ss3643356774	Oct 11, 2018 (152)
74	ILLUMINA	ss3644807843	Oct 11, 2018 (152)
75	ILLUMINA	ss3652680415	Oct 11, 2018 (152)
76	ILLUMINA	ss3654016385	Oct 11, 2018 (152)
77	EGCUT_WGS	ss3659764938	Jul 13, 2019 (153)
78	EVA_DECODE	ss3708680062	Jul 13, 2019 (153)
79	ILLUMINA	ss3725992419	Jul 13, 2019 (153)
80	ACPOP	ss3729650666	Jul 13, 2019 (153)
81	ILLUMINA	ss3744506512	Jul 13, 2019 (153)
82	ILLUMINA	ss3745181451	Jul 13, 2019 (153)
83	ILLUMINA	ss3745181452	Jul 13, 2019 (153)
84	EVA	ss3759689038	Jul 13, 2019 (153)
85	PAGE_CC	ss3771012540	Jul 13, 2019 (153)
86	ILLUMINA	ss3772677228	Jul 13, 2019 (153)
87	ILLUMINA	ss3772677229	Jul 13, 2019 (153)
88	EVA	ss3823887032	Apr 25, 2020 (154)
89	EVA	ss3825627144	Apr 25, 2020 (154)
90	SGDP_PRJ	ss3855272730	Apr 25, 2020 (154)
91	FSA-LAB	ss3984243433	Apr 26, 2021 (155)
92	EVA	ss3984448070	Apr 26, 2021 (155)
93	EVA	ss3984503401	Apr 26, 2021 (155)
94	EVA	ss3986229131	Apr 26, 2021 (155)
95	TOPMED	ss4554930479	Apr 26, 2021 (155)
96	CPQ_GEN_INCA	ss5236859501	Apr 26, 2021 (155)
97	EVA	ss5236994252	Apr 26, 2021 (155)
98	EVA	ss5237318747	Apr 26, 2021 (155)
99	EVA	ss5237639006	Oct 13, 2022 (156)
100	1000G_HIGH_COVERAGE	ss5253123679	Oct 13, 2022 (156)
101	EVA	ss5314835657	Oct 13, 2022 (156)
102	EVA	ss5338032029	Oct 13, 2022 (156)
103	HUGCELL_USP	ss5452616489	Oct 13, 2022 (156)
104	1000G_HIGH_COVERAGE	ss5530992932	Oct 13, 2022 (156)
105	SANFORD_IMAGENETICS	ss5624510881	Oct 13, 2022 (156)
106	SANFORD_IMAGENETICS	ss5631584609	Oct 13, 2022 (156)
107	EVA	ss5799570511	Oct 13, 2022 (156)
108	EVA	ss5825375637	Oct 13, 2022 (156)
109	EVA	ss5847954635	Oct 13, 2022 (156)
110	EVA	ss5848576231	Oct 13, 2022 (156)
111	EVA	ss5867717550	Oct 13, 2022 (156)
112	EVA	ss5959846476	Oct 13, 2022 (156)
113	EVA	ss5979646740	Oct 13, 2022 (156)
114	1000Genomes	NC_000003.11 - 14214524	Oct 11, 2018 (152)
115	1000Genomes_30x	NC_000003.12 - 14173024	Oct 13, 2022 (156)
116	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 14214524	Oct 11, 2018 (152)
117	Genome-wide autozygosity in Daghestan	NC_000003.10 - 14189528	Apr 25, 2020 (154)
118	Genetic variation in the Estonian population	NC_000003.11 - 14214524	Oct 11, 2018 (152)
119	ExAC	NC_000003.11 - 14214524	Oct 11, 2018 (152)
120	FINRISK	NC_000003.11 - 14214524	Apr 25, 2020 (154)
121	The Danish reference pan genome	NC_000003.11 - 14214524	Apr 25, 2020 (154)
122	gnomAD - Genomes	NC_000003.12 - 14173024	Apr 26, 2021 (155)
123	gnomAD - Exomes	NC_000003.11 - 14214524	Jul 13, 2019 (153)
124	GO Exome Sequencing Project	NC_000003.11 - 14214524	Oct 11, 2018 (152)
125	Genome of the Netherlands Release 5	NC_000003.11 - 14214524	Apr 25, 2020 (154)
126	HapMap	NC_000003.12 - 14173024	Apr 25, 2020 (154)
127	Medical Genome Project healthy controls from Spanish population	NC_000003.11 - 14214524	Apr 25, 2020 (154)
128	Northern Sweden	NC_000003.11 - 14214524	Jul 13, 2019 (153)
129	The PAGE Study	NC_000003.12 - 14173024	Jul 13, 2019 (153)
130	CNV burdens in cranial meningiomas	NC_000003.11 - 14214524	Apr 26, 2021 (155)
131	MxGDAR/Encodat-PGx	NC_000003.11 - 14214524	Apr 26, 2021 (155)
132	Qatari	NC_000003.11 - 14214524	Apr 25, 2020 (154)
133	SGDP_PRJ	NC_000003.11 - 14214524	Apr 25, 2020 (154)
134	Siberian	NC_000003.11 - 14214524	Apr 25, 2020 (154)
135	TopMed	NC_000003.12 - 14173024	Apr 26, 2021 (155)
136	UK 10K study - Twins	NC_000003.11 - 14214524	Oct 11, 2018 (152)
137	ALFA	NC_000003.12 - 14173024	Apr 26, 2021 (155)
138	ClinVar	RCV000122333.3	Oct 13, 2022 (156)
139	ClinVar	RCV000348650.4	Oct 13, 2022 (156)
140	ClinVar	RCV001521210.7	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)
rs3731062	May 11, 2012 (137)
rs52808398	Sep 21, 2007 (128)
rs386584829	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
306208, ss76755879, ss206066357, ss480801261, ss491829641, ss1397330109, ss1587756610, ss1712555534, ss2635115865, ss3643356774	NC_000003.10:14189527:G:A	NC_000003.12:14173023:G:A	(self)
14037655, 7782863, 5503186, 6798215, 22511, 6018729, 2634762, 345403, 3416808, 124936, 2935531, 52744, 1071, 3589492, 7289710, 1911658, 7782863, ss231716420, ss480816990, ss481742619, ss485195403, ss489866594, ss491336000, ss537184257, ss712502246, ss778520891, ss780813798, ss783043753, ss783495874, ss784002864, ss832301517, ss833977298, ss978294789, ss1302889746, ss1579853790, ss1584026050, ss1606461352, ss1649455385, ss1686883073, ss1711008397, ss1752443683, ss1752443684, ss1917763661, ss1921547562, ss1946075293, ss1958539557, ss2021327303, ss2149395304, ss2633914703, ss2710965689, ss2733562545, ss2746952512, ss2789774847, ss2985247830, ss2985869306, ss2991864445, ss3022214183, ss3344895522, ss3628595727, ss3628595728, ss3631863043, ss3633282980, ss3633999518, ss3634881658, ss3634881659, ss3635683690, ss3636577784, ss3637435996, ss3638398568, ss3640588961, ss3640588962, ss3644807843, ss3652680415, ss3654016385, ss3659764938, ss3729650666, ss3744506512, ss3745181451, ss3745181452, ss3759689038, ss3772677228, ss3772677229, ss3823887032, ss3825627144, ss3855272730, ss3984243433, ss3984448070, ss3984503401, ss3986229131, ss5236859501, ss5237318747, ss5314835657, ss5338032029, ss5624510881, ss5631584609, ss5799570511, ss5825375637, ss5847954635, ss5848576231, ss5959846476, ss5979646740	NC_000003.11:14214523:G:A	NC_000003.12:14173023:G:A	(self)
RCV000122333.3, RCV000348650.4, RCV001521210.7, 18518867, 99644320, 2307103, 234009, 392308034, 3020175854, ss1457610989, ss2249250886, ss3708680062, ss3725992419, ss3771012540, ss4554930479, ss5236994252, ss5237639006, ss5253123679, ss5452616489, ss5530992932, ss5867717550	NC_000003.12:14173023:G:A	NC_000003.12:14173023:G:A	(self)
ss4917044, ss68853593, ss74809320, ss75154346, ss76864612, ss104887032, ss160631930, ss173612388	NT_022517.18:14154523:G:A	NC_000003.12:14173023:G:A	(self)
3020175854	NC_000003.12:14173023:G:T	NC_000003.12:14173023:G:T	(self)

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

3 citations for rs2229089

PMID	Title	Author	Year	Journal
19442035	Pharmacogenomics of platinum-based chemotherapy in NSCLC.	Hildebrandt MA et al.	2009	Expert opinion on drug metabolism & toxicology
23436679	Xeroderma pigmentosum genes and melanoma risk.	Paszkowska-Szczur K et al.	2013	International journal of cancer
24728327	Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.	Bodian DL et al.	2014	PloS one

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2229089