Name: rs241447
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.

rs241447

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:32828974 (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: T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.273554 (82267/300734, ALFA)
C=0.259126 (68588/264690, TOPMED)
C=0.313266 (47971/153132, GnomAD_exome) (+ 21 more)
C=0.257563 (36029/139884, GnomAD)
C=0.26501 (20836/78622, PAGE_STUDY)
C=0.33290 (9407/28258, 14KJPN)
C=0.36327 (6594/18152, ExAC)
C=0.33431 (5603/16760, 8.3KJPN)
C=0.2992 (1916/6404, 1000G_30x)
C=0.3017 (1511/5008, 1000G)
C=0.2866 (1284/4480, Estonian)
C=0.2390 (921/3854, ALSPAC)
C=0.2295 (851/3708, TWINSUK)
C=0.3884 (1138/2930, KOREAN)
C=0.3321 (692/2084, HGDP_Stanford)
C=0.3056 (577/1888, HapMap)
C=0.244 (244/998, GoNL)
C=0.252 (151/600, NorthernSweden)
C=0.210 (112/534, MGP)
T=0.351 (101/288, SGDP_PRJ)
C=0.366 (79/216, Qatari)
C=0.37 (26/70, Ancient Sardinia)
C=0.15 (6/40, GENOME_DK)
T=0.47 (18/38, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: TAP2 : Missense Variant
Publications: 15 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	316698	T=0.728795	C=0.271205
European	Sub	268142	T=0.731441	C=0.268559
African	Sub	14340	T=0.80921	C=0.19079
African Others	Sub	506	T=0.814	C=0.186
African American	Sub	13834	T=0.80902	C=0.19098
Asian	Sub	6418	T=0.6052	C=0.3948
East Asian	Sub	4578	T=0.6282	C=0.3718
Other Asian	Sub	1840	T=0.5478	C=0.4522
Latin American 1	Sub	892	T=0.776	C=0.224
Latin American 2	Sub	1648	T=0.6754	C=0.3246
South Asian	Sub	5156	T=0.6270	C=0.3730
Other	Sub	20102	T=0.70401	C=0.29599

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	300734	T=0.726446	C=0.273554
Allele Frequency Aggregator	European	Sub	258428	T=0.730586	C=0.269414
Allele Frequency Aggregator	Other	Sub	18682	T=0.69987	C=0.30013
Allele Frequency Aggregator	African	Sub	9510	T=0.8061	C=0.1939
Allele Frequency Aggregator	Asian	Sub	6418	T=0.6052	C=0.3948
Allele Frequency Aggregator	South Asian	Sub	5156	T=0.6270	C=0.3730
Allele Frequency Aggregator	Latin American 2	Sub	1648	T=0.6754	C=0.3246
Allele Frequency Aggregator	Latin American 1	Sub	892	T=0.776	C=0.224
TopMed	Global	Study-wide	264690	T=0.740874	C=0.259126
gnomAD - Exomes	Global	Study-wide	153132	T=0.686734	C=0.313266
gnomAD - Exomes	European	Sub	73952	T=0.72152	C=0.27848
gnomAD - Exomes	Asian	Sub	33800	T=0.61728	C=0.38272
gnomAD - Exomes	American	Sub	24934	T=0.64538	C=0.35462
gnomAD - Exomes	Ashkenazi Jewish	Sub	8632	T=0.6547	C=0.3453
gnomAD - Exomes	African	Sub	7416	T=0.8239	C=0.1761
gnomAD - Exomes	Other	Sub	4398	T=0.7017	C=0.2983
gnomAD - Genomes	Global	Study-wide	139884	T=0.742437	C=0.257563
gnomAD - Genomes	European	Sub	75766	T=0.72476	C=0.27524
gnomAD - Genomes	African	Sub	41898	T=0.81436	C=0.18564
gnomAD - Genomes	American	Sub	13624	T=0.66882	C=0.33118
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.6544	C=0.3456
gnomAD - Genomes	East Asian	Sub	3124	T=0.6376	C=0.3624
gnomAD - Genomes	Other	Sub	2150	T=0.7186	C=0.2814
The PAGE Study	Global	Study-wide	78622	T=0.73499	C=0.26501
The PAGE Study	AfricanAmerican	Sub	32478	T=0.81418	C=0.18582
The PAGE Study	Mexican	Sub	10804	T=0.65531	C=0.34469
The PAGE Study	Asian	Sub	8304	T=0.6339	C=0.3661
The PAGE Study	PuertoRican	Sub	7910	T=0.7322	C=0.2678
The PAGE Study	NativeHawaiian	Sub	4528	T=0.6513	C=0.3487
The PAGE Study	Cuban	Sub	4228	T=0.7190	C=0.2810
The PAGE Study	Dominican	Sub	3824	T=0.7558	C=0.2442
The PAGE Study	CentralAmerican	Sub	2450	T=0.6339	C=0.3661
The PAGE Study	SouthAmerican	Sub	1982	T=0.6751	C=0.3249
The PAGE Study	NativeAmerican	Sub	1258	T=0.7385	C=0.2615
The PAGE Study	SouthAsian	Sub	856	T=0.593	C=0.407
14KJPN	JAPANESE	Study-wide	28258	T=0.66710	C=0.33290
ExAC	Global	Study-wide	18152	T=0.63673	C=0.36327
ExAC	Asian	Sub	8424	T=0.6064	C=0.3936
ExAC	Europe	Sub	7874	T=0.6574	C=0.3426
ExAC	African	Sub	1184	T=0.7466	C=0.2534
ExAC	American	Sub	498	T=0.572	C=0.428
ExAC	Other	Sub	172	T=0.610	C=0.390
8.3KJPN	JAPANESE	Study-wide	16760	T=0.66569	C=0.33431
1000Genomes_30x	Global	Study-wide	6404	T=0.7008	C=0.2992
1000Genomes_30x	African	Sub	1786	T=0.8466	C=0.1534
1000Genomes_30x	Europe	Sub	1266	T=0.7196	C=0.2804
1000Genomes_30x	South Asian	Sub	1202	T=0.5491	C=0.4509
1000Genomes_30x	East Asian	Sub	1170	T=0.6265	C=0.3735
1000Genomes_30x	American	Sub	980	T=0.686	C=0.314
1000Genomes	Global	Study-wide	5008	T=0.6983	C=0.3017
1000Genomes	African	Sub	1322	T=0.8427	C=0.1573
1000Genomes	East Asian	Sub	1008	T=0.6310	C=0.3690
1000Genomes	Europe	Sub	1006	T=0.7237	C=0.2763
1000Genomes	South Asian	Sub	978	T=0.555	C=0.445
1000Genomes	American	Sub	694	T=0.686	C=0.314
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7134	C=0.2866
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.7610	C=0.2390
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7705	C=0.2295
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.6116	C=0.3884, G=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.6679	C=0.3321
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.615	C=0.385
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.686	C=0.314
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.697	C=0.303
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.706	C=0.294
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.810	C=0.190
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.495	C=0.505
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.64	C=0.36
HapMap	Global	Study-wide	1888	T=0.6944	C=0.3056
HapMap	American	Sub	766	T=0.672	C=0.328
HapMap	African	Sub	692	T=0.733	C=0.267
HapMap	Asian	Sub	254	T=0.626	C=0.374
HapMap	Europe	Sub	176	T=0.739	C=0.261
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.756	C=0.244
Northern Sweden	ACPOP	Study-wide	600	T=0.748	C=0.252
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.790	C=0.210
SGDP_PRJ	Global	Study-wide	288	T=0.351	C=0.649
Qatari	Global	Study-wide	216	T=0.634	C=0.366
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	70	T=0.63	C=0.37
The Danish reference pan genome	Danish	Study-wide	40	T=0.85	C=0.15
Siberian	Global	Study-wide	38	T=0.47	C=0.53

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 6	NC_000006.12:g.32828974T>C
GRCh38.p14 chr 6	NC_000006.12:g.32828974T>G
GRCh37.p13 chr 6	NC_000006.11:g.32796751T>C
GRCh37.p13 chr 6	NC_000006.11:g.32796751T>G
TAP2 RefSeqGene (LRG_167)	NG_009793.4:g.14797A>G
TAP2 RefSeqGene (LRG_167)	NG_009793.4:g.14797A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4241174T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4241174T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4241280T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4241280T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.4128054T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.4128054T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.4133639T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.4133639T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.4072545C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.4072545C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.4078130C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.4078130C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.4133840C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.4133840C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.4083756C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.4083756C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4228228C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4228228C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4227526C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4227526C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.4023261T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.4023261T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.4028857T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.4028857T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4248326T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4248326T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4253946T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4253946T>G

Gene: TAP2, transporter 2, ATP binding cassette subfamily B member (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TAP2 transcript variant 2	NM_018833.3:c.1932+426A>G	N/A	Intron Variant
TAP2 transcript variant 1, A allele	NM_001290043.2:c.1993A>G	T [ACA] > A [GCA]	Coding Sequence Variant
antigen peptide transporter 2 isoform 3	NP_001276972.1:p.Thr665Ala	T (Thr) > A (Ala)	Missense Variant
TAP2 transcript variant 1, A allele	NM_001290043.2:c.1993A>C	T [ACA] > P [CCA]	Coding Sequence Variant
antigen peptide transporter 2 isoform 3	NP_001276972.1:p.Thr665Pro	T (Thr) > P (Pro)	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: T= (allele ID: 28764 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000014728.3	PEPTIDE TRANSPORTER PSF2 POLYMORPHISM	Benign
RCV000537514.9	MHC class I deficiency	Benign

Allele: C (allele ID: 389668 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000455618.3	not specified	Benign
RCV000987675.5	MHC class I deficiency	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	T=	C	G
GRCh38.p14 chr 6	NC_000006.12:g.32828974=	NC_000006.12:g.32828974T>C	NC_000006.12:g.32828974T>G
GRCh37.p13 chr 6	NC_000006.11:g.32796751=	NC_000006.11:g.32796751T>C	NC_000006.11:g.32796751T>G
TAP2 RefSeqGene (LRG_167)	NG_009793.4:g.14797=	NG_009793.4:g.14797A>G	NG_009793.4:g.14797A>C
TAP2 transcript variant 1, B allele	NM_000544.3:c.1993G>A	NM_000544.3:c.1993=	NM_000544.3:c.1993G>C
TAP2 transcript variant 1, A allele	NM_001290043.2:c.1993=	NM_001290043.2:c.1993A>G	NM_001290043.2:c.1993A>C
TAP2 transcript variant 1, A allele	NM_001290043.1:c.1993=	NM_001290043.1:c.1993A>G	NM_001290043.1:c.1993A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4241174=	NT_113891.3:g.4241174T>C	NT_113891.3:g.4241174T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4241280=	NT_113891.2:g.4241280T>C	NT_113891.2:g.4241280T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.4128054=	NT_167247.2:g.4128054T>C	NT_167247.2:g.4128054T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.4133639=	NT_167247.1:g.4133639T>C	NT_167247.1:g.4133639T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.4072545C>T	NT_167245.2:g.4072545=	NT_167245.2:g.4072545C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.4078130C>T	NT_167245.1:g.4078130=	NT_167245.1:g.4078130C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.4133840C>T	NT_167244.2:g.4133840=	NT_167244.2:g.4133840C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.4083756C>T	NT_167244.1:g.4083756=	NT_167244.1:g.4083756C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4228228C>T	NT_167249.2:g.4228228=	NT_167249.2:g.4228228C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4227526C>T	NT_167249.1:g.4227526=	NT_167249.1:g.4227526C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.4023261=	NT_167248.2:g.4023261T>C	NT_167248.2:g.4023261T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.4028857=	NT_167248.1:g.4028857T>C	NT_167248.1:g.4028857T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4248326=	NT_167246.2:g.4248326T>C	NT_167246.2:g.4248326T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4253946=	NT_167246.1:g.4253946T>C	NT_167246.1:g.4253946T>G
antigen peptide transporter 2 isoform 3	NP_001276972.1:p.Thr665=	NP_001276972.1:p.Thr665Ala	NP_001276972.1:p.Thr665Pro
TAP2 transcript variant 2	NM_018833.2:c.1932+426=	NM_018833.2:c.1932+426A>G	NM_018833.2:c.1932+426A>C
TAP2 transcript variant 2	NM_018833.3:c.1932+426=	NM_018833.3:c.1932+426A>G	NM_018833.3:c.1932+426A>C
antigen peptide transporter 2 isoform 1	NP_000535.3:p.Ala665Thr	NP_000535.3:p.Ala665=	NP_000535.3:p.Ala665Pro
TAP2 transcript variant X1	XM_005249332.1:c.1965+426=	XM_005249332.1:c.1965+426A>G	XM_005249332.1:c.1965+426A>C
TAP2 transcript variant X1	XM_005272863.1:c.1965+426=	XM_005272863.1:c.1965+426A>G	XM_005272863.1:c.1965+426A>C
TAP2 transcript variant X2	XM_005274885.1:c.1965+426G>A	XM_005274885.1:c.1965+426=	XM_005274885.1:c.1965+426G>C
TAP2 transcript variant X2	XM_005275016.1:c.1965+426G>A	XM_005275016.1:c.1965+426=	XM_005275016.1:c.1965+426G>C
TAP2 transcript variant X1	XM_005275154.1:c.1965+426=	XM_005275154.1:c.1965+426A>G	XM_005275154.1:c.1965+426A>C
TAP2 transcript variant X1	XM_005275285.1:c.1965+426=	XM_005275285.1:c.1965+426A>G	XM_005275285.1:c.1965+426A>C
TAP2 transcript variant X1	XM_005275447.1:c.1965+426=	XM_005275447.1:c.1965+426A>G	XM_005275447.1:c.1965+426A>C
TAP2 transcript variant X2	XM_005275587.1:c.1965+426G>A	XM_005275587.1:c.1965+426=	XM_005275587.1:c.1965+426G>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#.

191 SubSNP, 24 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss310841	Jul 12, 2000 (79)
2	KWOK	ss1035186	Oct 04, 2000 (86)
3	LEE	ss1509083	Oct 04, 2000 (86)
4	KWOK	ss1954321	Oct 18, 2000 (87)
5	HGBASE	ss2420548	Nov 14, 2000 (89)
6	YUSUKE	ss2985102	Jun 15, 2001 (96)
7	WIAF-CSNP	ss3173073	Aug 15, 2001 (102)
8	SC_JCM	ss4044895	Sep 28, 2001 (100)
9	RIKENSNPRC	ss5603193	Dec 12, 2002 (110)
10	CSHL-HAPMAP	ss17109642	Feb 27, 2004 (120)
11	SEQUENOM	ss24796293	Sep 20, 2004 (123)
12	DBMHC	ss32469322	Dec 12, 2006 (127)
13	SI_MHC_SNP	ss35035405	May 24, 2005 (125)
14	ABI	ss42873618	Mar 11, 2006 (126)
15	APPLERA_GI	ss48411368	Mar 11, 2006 (126)
16	ILLUMINA	ss65726900	Oct 14, 2006 (127)
17	ILLUMINA	ss66557258	Nov 29, 2006 (127)
18	ILLUMINA	ss67252873	Nov 29, 2006 (127)
19	ILLUMINA	ss67650806	Nov 29, 2006 (127)
20	ILLUMINA	ss70731217	May 26, 2008 (130)
21	ILLUMINA	ss71300725	May 16, 2007 (130)
22	SI_EXO	ss71644935	May 16, 2007 (130)
23	AFFY	ss74806397	Aug 16, 2007 (130)
24	ILLUMINA	ss75076601	Dec 07, 2007 (129)
25	CGM_KYOTO	ss76870081	Dec 07, 2007 (129)
26	ILLUMINA	ss79134155	Dec 16, 2007 (130)
27	KRIBB_YJKIM	ss83398990	Dec 16, 2007 (130)
28	HUMANGENOME_JCVI	ss98384483	Feb 06, 2009 (130)
29	1000GENOMES	ss109924250	Feb 13, 2009 (130)
30	ILLUMINA-UK	ss116407063	Feb 14, 2009 (130)
31	ILLUMINA	ss122030133	Dec 01, 2009 (131)
32	ENSEMBL	ss133673549	Dec 01, 2009 (131)
33	ENSEMBL	ss144358477	Dec 01, 2009 (131)
34	ILLUMINA	ss153910772	Dec 01, 2009 (131)
35	ILLUMINA	ss159388604	Dec 01, 2009 (131)
36	ILLUMINA	ss160545497	Dec 01, 2009 (131)
37	ILLUMINA	ss161094299	Dec 01, 2009 (131)
38	COMPLETE_GENOMICS	ss166469208	Jul 04, 2010 (132)
39	ILLUMINA	ss171248077	Jul 04, 2010 (132)
40	ILLUMINA	ss173334335	Jul 04, 2010 (132)
41	BUSHMAN	ss201654586	Jul 04, 2010 (132)
42	BCM-HGSC-SUB	ss207771470	Jul 04, 2010 (132)
43	1000GENOMES	ss211820372	Jul 14, 2010 (132)
44	1000GENOMES	ss222320737	Jul 14, 2010 (132)
45	1000GENOMES	ss233418209	Jul 14, 2010 (132)
46	1000GENOMES	ss240484798	Jul 15, 2010 (132)
47	OMICIA	ss244317435	Sep 14, 2012 (137)
48	BL	ss254218786	May 09, 2011 (136)
49	GMI	ss278743691	May 04, 2012 (137)
50	GMI	ss285382138	Apr 25, 2013 (138)
51	PJP	ss293832355	May 09, 2011 (136)
52	ILLUMINA	ss410923015	Jul 19, 2016 (147)
53	ILLUMINA	ss479182439	Sep 08, 2015 (146)
54	ILLUMINA	ss480576818	May 04, 2012 (137)
55	ILLUMINA	ss481396257	Sep 08, 2015 (146)
56	ILLUMINA	ss485076803	May 04, 2012 (137)
57	EXOME_CHIP	ss491383710	May 04, 2012 (137)
58	ILLUMINA	ss537088397	Sep 08, 2015 (146)
59	OMIM-CURATED-RECORDS	ss538788127	Sep 12, 2012 (137)
60	TISHKOFF	ss559122224	Apr 25, 2013 (138)
61	SSMP	ss653054528	Apr 25, 2013 (138)
62	NHLBI-ESP	ss712702265	Apr 25, 2013 (138)
63	ILLUMINA	ss778495471	Sep 08, 2015 (146)
64	ILLUMINA	ss778660636	Aug 21, 2014 (142)
65	ILLUMINA	ss780847977	Aug 21, 2014 (142)
66	ILLUMINA	ss782984689	Sep 08, 2015 (146)
67	ILLUMINA	ss783531679	Aug 21, 2014 (142)
68	ILLUMINA	ss783945632	Sep 08, 2015 (146)
69	ILLUMINA	ss825464673	Apr 01, 2015 (144)
70	ILLUMINA	ss832241340	Sep 08, 2015 (146)
71	ILLUMINA	ss832900361	Jul 13, 2019 (153)
72	ILLUMINA	ss833951523	Sep 08, 2015 (146)
73	ILLUMINA	ss834118794	Aug 21, 2014 (142)
74	JMKIDD_LAB	ss974459851	Aug 21, 2014 (142)
75	EVA-GONL	ss982789103	Aug 21, 2014 (142)
76	JMKIDD_LAB	ss1067477881	Aug 21, 2014 (142)
77	JMKIDD_LAB	ss1073514344	Aug 21, 2014 (142)
78	1000GENOMES	ss1319602885	Aug 21, 2014 (142)
79	EVA_GENOME_DK	ss1581616633	Apr 01, 2015 (144)
80	EVA_DECODE	ss1592322503	Apr 01, 2015 (144)
81	EVA_UK10K_ALSPAC	ss1615294629	Apr 01, 2015 (144)
82	EVA_UK10K_TWINSUK	ss1658288662	Apr 01, 2015 (144)
83	EVA_EXAC	ss1688260111	Apr 01, 2015 (144)
84	EVA_MGP	ss1711124429	Apr 01, 2015 (144)
85	EVA_SVP	ss1712852862	Apr 01, 2015 (144)
86	ILLUMINA	ss1752631556	Sep 08, 2015 (146)
87	ILLUMINA	ss1752631557	Sep 08, 2015 (146)
88	HAMMER_LAB	ss1804369175	Sep 08, 2015 (146)
89	ILLUMINA	ss1917803643	Feb 12, 2016 (147)
90	WEILL_CORNELL_DGM	ss1926046968	Feb 12, 2016 (147)
91	ILLUMINA	ss1946174905	Feb 12, 2016 (147)
92	ILLUMINA	ss1946174906	Feb 12, 2016 (147)
93	ILLUMINA	ss1958896261	Feb 12, 2016 (147)
94	ILLUMINA	ss1958896262	Feb 12, 2016 (147)
95	GENOMED	ss1970365659	Jul 19, 2016 (147)
96	JJLAB	ss2023659207	Sep 14, 2016 (149)
97	ILLUMINA	ss2094826609	Dec 20, 2016 (150)
98	ILLUMINA	ss2095180593	Dec 20, 2016 (150)
99	USC_VALOUEV	ss2151835313	Dec 20, 2016 (150)
100	HUMAN_LONGEVITY	ss2282999650	Dec 20, 2016 (150)
101	SYSTEMSBIOZJU	ss2626317708	Nov 08, 2017 (151)
102	ILLUMINA	ss2634434499	Nov 08, 2017 (151)
103	ILLUMINA	ss2634434500	Nov 08, 2017 (151)
104	GRF	ss2707430184	Nov 08, 2017 (151)
105	ILLUMINA	ss2711073015	Nov 08, 2017 (151)
106	GNOMAD	ss2735694392	Nov 08, 2017 (151)
107	GNOMAD	ss2747595726	Nov 08, 2017 (151)
108	AFFY	ss2985364017	Nov 08, 2017 (151)
109	AFFY	ss2985996534	Nov 08, 2017 (151)
110	SWEGEN	ss2998845443	Nov 08, 2017 (151)
111	ILLUMINA	ss3022607079	Nov 08, 2017 (151)
112	ILLUMINA	ss3022607080	Nov 08, 2017 (151)
113	EVA_SAMSUNG_MC	ss3023062181	Nov 08, 2017 (151)
114	BIOINF_KMB_FNS_UNIBA	ss3025621280	Nov 08, 2017 (151)
115	ILLUMINA	ss3625898774	Oct 12, 2018 (152)
116	ILLUMINA	ss3629513101	Oct 12, 2018 (152)
117	ILLUMINA	ss3629513102	Oct 12, 2018 (152)
118	ILLUMINA	ss3632352475	Oct 12, 2018 (152)
119	ILLUMINA	ss3632352476	Oct 12, 2018 (152)
120	ILLUMINA	ss3633416943	Oct 12, 2018 (152)
121	ILLUMINA	ss3634139553	Oct 12, 2018 (152)
122	ILLUMINA	ss3635059882	Oct 12, 2018 (152)
123	ILLUMINA	ss3635059883	Oct 12, 2018 (152)
124	ILLUMINA	ss3635820494	Oct 12, 2018 (152)
125	ILLUMINA	ss3636782271	Oct 12, 2018 (152)
126	ILLUMINA	ss3636782272	Oct 12, 2018 (152)
127	ILLUMINA	ss3637573296	Oct 12, 2018 (152)
128	ILLUMINA	ss3638622144	Oct 12, 2018 (152)
129	ILLUMINA	ss3639311966	Oct 12, 2018 (152)
130	ILLUMINA	ss3639681476	Oct 12, 2018 (152)
131	ILLUMINA	ss3640767181	Oct 12, 2018 (152)
132	ILLUMINA	ss3640767182	Oct 12, 2018 (152)
133	ILLUMINA	ss3643563730	Oct 12, 2018 (152)
134	ILLUMINA	ss3644907946	Oct 12, 2018 (152)
135	ILLUMINA	ss3644907947	Oct 12, 2018 (152)
136	OMUKHERJEE_ADBS	ss3646336760	Oct 12, 2018 (152)
137	URBANLAB	ss3648323787	Oct 12, 2018 (152)
138	ILLUMINA	ss3653121226	Oct 12, 2018 (152)
139	ILLUMINA	ss3653121227	Oct 12, 2018 (152)
140	ILLUMINA	ss3654129767	Oct 12, 2018 (152)
141	EGCUT_WGS	ss3666732312	Jul 13, 2019 (153)
142	EVA_DECODE	ss3716943196	Jul 13, 2019 (153)
143	ILLUMINA	ss3726334625	Jul 13, 2019 (153)
144	ACPOP	ss3733384554	Jul 13, 2019 (153)
145	ILLUMINA	ss3744269550	Jul 13, 2019 (153)
146	ILLUMINA	ss3744552098	Jul 13, 2019 (153)
147	ILLUMINA	ss3745359834	Jul 13, 2019 (153)
148	ILLUMINA	ss3745359835	Jul 13, 2019 (153)
149	EVA	ss3764849523	Jul 13, 2019 (153)
150	PAGE_CC	ss3771283217	Jul 13, 2019 (153)
151	ILLUMINA	ss3772853506	Jul 13, 2019 (153)
152	ILLUMINA	ss3772853507	Jul 13, 2019 (153)
153	PACBIO	ss3785438194	Jul 13, 2019 (153)
154	PACBIO	ss3790795290	Jul 13, 2019 (153)
155	PACBIO	ss3795673876	Jul 13, 2019 (153)
156	KHV_HUMAN_GENOMES	ss3808005968	Jul 13, 2019 (153)
157	EVA	ss3824175262	Apr 26, 2020 (154)
158	EVA	ss3825523395	Apr 26, 2020 (154)
159	EVA	ss3825539401	Apr 26, 2020 (154)
160	EVA	ss3825695729	Apr 26, 2020 (154)
161	EVA	ss3829853121	Apr 26, 2020 (154)
162	HGDP	ss3847829714	Apr 26, 2020 (154)
163	SGDP_PRJ	ss3864306742	Apr 26, 2020 (154)
164	KRGDB	ss3911084856	Apr 26, 2020 (154)
165	FSA-LAB	ss3984334222	Apr 26, 2021 (155)
166	EVA	ss3985214873	Apr 26, 2021 (155)
167	EVA	ss4017268094	Apr 26, 2021 (155)
168	TOPMED	ss4698609828	Apr 26, 2021 (155)
169	TOMMO_GENOMICS	ss5176917641	Apr 26, 2021 (155)
170	EVA	ss5237023289	Apr 26, 2021 (155)
171	EVA	ss5237646312	Oct 13, 2022 (156)
172	1000G_HIGH_COVERAGE	ss5267978412	Oct 13, 2022 (156)
173	EVA	ss5314388653	Oct 13, 2022 (156)
174	EVA	ss5315145391	Oct 13, 2022 (156)
175	EVA	ss5364785293	Oct 13, 2022 (156)
176	HUGCELL_USP	ss5465698529	Oct 13, 2022 (156)
177	EVA	ss5508440235	Oct 13, 2022 (156)
178	1000G_HIGH_COVERAGE	ss5553654787	Oct 13, 2022 (156)
179	SANFORD_IMAGENETICS	ss5640135330	Oct 13, 2022 (156)
180	TOMMO_GENOMICS	ss5714789632	Oct 13, 2022 (156)
181	EVA	ss5799684853	Oct 13, 2022 (156)
182	EVA	ss5800130262	Oct 13, 2022 (156)
183	YY_MCH	ss5807347924	Oct 13, 2022 (156)
184	EVA	ss5842053677	Oct 13, 2022 (156)
185	EVA	ss5848091794	Oct 13, 2022 (156)
186	EVA	ss5848654897	Oct 13, 2022 (156)
187	EVA	ss5855298108	Oct 13, 2022 (156)
188	EVA	ss5883283175	Oct 13, 2022 (156)
189	EVA	ss5936531513	Oct 13, 2022 (156)
190	EVA	ss5968623690	Oct 13, 2022 (156)
191	EVA	ss5981234999	Oct 13, 2022 (156)
192	1000Genomes	NC_000006.11 - 32796751	Oct 12, 2018 (152)
193	1000Genomes_30x	NC_000006.12 - 32828974	Oct 13, 2022 (156)
194	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 32796751	Oct 12, 2018 (152)
195	Genetic variation in the Estonian population	NC_000006.11 - 32796751	Oct 12, 2018 (152)
196	ExAC	NC_000006.11 - 32796751	Oct 12, 2018 (152)
197	The Danish reference pan genome	NC_000006.11 - 32796751	Apr 26, 2020 (154)
198	gnomAD - Genomes	NC_000006.12 - 32828974	Apr 26, 2021 (155)
199	gnomAD - Exomes	NC_000006.11 - 32796751	Jul 13, 2019 (153)
200	Genome of the Netherlands Release 5	NC_000006.11 - 32796751	Apr 26, 2020 (154)
201	HGDP-CEPH-db Supplement 1	NC_000006.10 - 32904729	Apr 26, 2020 (154)
202	HapMap	NC_000006.12 - 32828974	Apr 26, 2020 (154)
203	KOREAN population from KRGDB	NC_000006.11 - 32796751	Apr 26, 2020 (154)
204	Medical Genome Project healthy controls from Spanish population	NC_000006.11 - 32796751	Apr 26, 2020 (154)
205	Northern Sweden	NC_000006.11 - 32796751	Jul 13, 2019 (153)
206	The PAGE Study	NC_000006.12 - 32828974	Jul 13, 2019 (153)
207	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 32796751	Apr 26, 2021 (155)
208	Qatari	NC_000006.11 - 32796751	Apr 26, 2020 (154)
209	SGDP_PRJ	NC_000006.11 - 32796751	Apr 26, 2020 (154)
210	Siberian	NC_000006.11 - 32796751	Apr 26, 2020 (154)
211	8.3KJPN	NC_000006.11 - 32796751	Apr 26, 2021 (155)
212	14KJPN	NC_000006.12 - 32828974	Oct 13, 2022 (156)
213	TopMed	NC_000006.12 - 32828974	Apr 26, 2021 (155)
214	UK 10K study - Twins	NC_000006.11 - 32796751	Oct 12, 2018 (152)
215	ALFA	NC_000006.12 - 32828974	Apr 26, 2021 (155)
216	ClinVar	RCV000014728.3	Oct 13, 2022 (156)
217	ClinVar	RCV000455618.3	Oct 13, 2022 (156)
218	ClinVar	RCV000537514.9	Oct 13, 2022 (156)
219	ClinVar	RCV000987675.5	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)
rs2228394	Jan 04, 2002 (102)
rs17884069	Mar 11, 2006 (126)
rs45468099	May 26, 2008 (130)
rs52832084	Sep 21, 2007 (128)
rs61341816	May 26, 2008 (130)
rs111033561	Mar 28, 2012 (136)
rs116074636	Oct 26, 2010 (133)
rs117931610	Aug 16, 2010 (132)
rs150849165	Mar 28, 2012 (136)
rs386566783	Jul 31, 2014 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639311966, ss3639681476	NC_000006.9:32904728:T:C	NC_000006.12:32828973:T:C	(self)
507606, ss109924250, ss116407063, ss161094299, ss166469208, ss201654586, ss207771470, ss211820372, ss254218786, ss278743691, ss285382138, ss293832355, ss825464673, ss1592322503, ss1712852862, ss3643563730, ss3847829714	NC_000006.10:32904728:T:C	NC_000006.12:32828973:T:C	(self)
31371908, 17486475, 12470560, 8287940, 7781572, 4835975, 7783456, 18262250, 240189, 6669419, 440800, 8088898, 16323722, 4351667, 34886948, 17486475, ss222320737, ss233418209, ss240484798, ss479182439, ss480576818, ss481396257, ss485076803, ss491383710, ss537088397, ss559122224, ss653054528, ss712702265, ss778495471, ss778660636, ss780847977, ss782984689, ss783531679, ss783945632, ss832241340, ss832900361, ss833951523, ss834118794, ss974459851, ss982789103, ss1067477881, ss1073514344, ss1319602885, ss1581616633, ss1615294629, ss1658288662, ss1688260111, ss1711124429, ss1752631556, ss1752631557, ss1804369175, ss1917803643, ss1926046968, ss1946174905, ss1946174906, ss1958896261, ss1958896262, ss1970365659, ss2023659207, ss2094826609, ss2095180593, ss2151835313, ss2626317708, ss2634434499, ss2634434500, ss2707430184, ss2711073015, ss2735694392, ss2747595726, ss2985364017, ss2985996534, ss2998845443, ss3022607079, ss3022607080, ss3023062181, ss3625898774, ss3629513101, ss3629513102, ss3632352475, ss3632352476, ss3633416943, ss3634139553, ss3635059882, ss3635059883, ss3635820494, ss3636782271, ss3636782272, ss3637573296, ss3638622144, ss3640767181, ss3640767182, ss3644907946, ss3644907947, ss3646336760, ss3653121226, ss3653121227, ss3654129767, ss3666732312, ss3733384554, ss3744269550, ss3744552098, ss3745359834, ss3745359835, ss3764849523, ss3772853506, ss3772853507, ss3785438194, ss3790795290, ss3795673876, ss3824175262, ss3825523395, ss3825539401, ss3825695729, ss3829853121, ss3864306742, ss3911084856, ss3984334222, ss3985214873, ss4017268094, ss5176917641, ss5315145391, ss5364785293, ss5508440235, ss5640135330, ss5799684853, ss5800130262, ss5842053677, ss5848091794, ss5848654897, ss5936531513, ss5968623690, ss5981234999	NC_000006.11:32796750:T:C	NC_000006.12:32828973:T:C	(self)
RCV000455618.3, RCV000987675.5, 41180722, 221456177, 3103675, 504686, 48626736, 535987386, 12464670336, ss244317435, ss538788127, ss2282999650, ss3025621280, ss3648323787, ss3716943196, ss3726334625, ss3771283217, ss3808005968, ss4698609828, ss5237023289, ss5237646312, ss5267978412, ss5314388653, ss5465698529, ss5553654787, ss5714789632, ss5807347924, ss5855298108, ss5883283175	NC_000006.12:32828973:T:C	NC_000006.12:32828973:T:C	(self)
ss17109642	NT_007592.13:23593982:T:C	NC_000006.12:32828973:T:C	(self)
ss310841, ss1035186, ss1509083, ss1954321, ss2420548, ss2985102, ss3173073, ss4044895, ss5603193, ss24796293, ss32469322, ss35035405, ss42873618, ss48411368, ss65726900, ss66557258, ss67252873, ss67650806, ss70731217, ss71300725, ss71644935, ss74806397, ss75076601, ss76870081, ss79134155, ss83398990, ss98384483, ss122030133, ss133673549, ss144358477, ss153910772, ss159388604, ss160545497, ss171248077, ss173334335, ss410923015	NT_007592.15:32736750:T:C	NC_000006.12:32828973:T:C	(self)
18262250, ss3911084856	NC_000006.11:32796750:T:G	NC_000006.12:32828973:T:G	(self)

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

15 citations for rs241447

PMID	Title	Author	Year	Journal
1570316	Allelic variants of the human putative peptide transporter involved in antigen processing.	Colonna M et al.	1992	Proceedings of the National Academy of Sciences of the United States of America
17192492	Genetic control of alternative splicing in the TAP2 gene: possible implication in the genetics of type 1 diabetes.	Qu HQ et al.	2007	Diabetes
17708757	Genome bioinformatic analysis of nonsynonymous SNPs.	Burke DF et al.	2007	BMC bioinformatics
19387463	Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC.	Ramos PS et al.	2009	Genes and immunity
21682861	Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving.	Cagliani R et al.	2011	BMC evolutionary biology
22911334	A two-stage evaluation of genetic variation in immune and inflammation genes with risk of non-Hodgkin lymphoma identifies new susceptibility locus in 6p21.3 region.	Cerhan JR et al.	2012	Cancer epidemiology, biomarkers & prevention
23395648	Genetic evidence of TAP1 gene variant as a susceptibility factor in Indian leprosy patients.	Shinde V et al.	2013	Human immunology
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
24972609	Significant association between TAP2 polymorphisms and rheumatoid arthritis: a meta-analysis.	Dai D et al.	2014	Diagnostic pathology
27098790	Association Analysis of Proteasome Subunits and Transporter Associated with Antigen Processing on Chinese Patients with Parkinson's Disease.	Mo MS et al.	2016	Chinese medical journal
30082158	An update meta-analysis and systematic review of TAP polymorphisms as potential biomarkers for judging cancer risk.	Meng J et al.	2018	Pathology, research and practice
31074096	Quantitative assessment of the association between TAP2 rs241447 polymorphism and cancer risk.	Liu R et al.	2019	Journal of cellular biochemistry
32008813	Is the TAP2 single nucleotide polymorphism rs241447 truly associated with psoriasis in Poles?	Wiśniewski A et al.	2020	Human immunology
33374413	Tracking the Genetic Susceptibility Background of B-Cell Non-Hodgkin's Lymphomas from Genome-Wide Association Studies.	Hernández-Verdin I et al.	2020	International journal of molecular sciences
35068162	Genetic contributions of MHC class I antigen processing and presentation pathway to bladder cancer risk and recurrence.	Wieczorek E et al.	2022	Neoplasma

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
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs241447