rs241447

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs241447(A;G)

Make rs241447(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

32828974

Gene

TAP2

is a	snp
is	mentioned by
dbSNP	rs241447
dbSNP (classic)	rs241447
ClinGen	rs241447
ebi	rs241447
HLI	rs241447
Exac	rs241447
Gnomad	rs241447
Varsome	rs241447
LitVar	rs241447
Map	rs241447
PheGenI	rs241447
Biobank	rs241447
1000 genomes	rs241447
hgdp	rs241447
ensembl	rs241447
geneview	rs241447
scholar	rs241447
google	rs241447
pharmgkb	rs241447
gwascentral	rs241447
openSNP	rs241447
23andMe	rs241447
SNPshot	rs241447
SNPdbe	rs241447
MSV3d	rs241447
GWAS Ctlg	rs241447

Merged from

Rs111033561

GMAF

0.2842

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

OMIM	170261
Desc	PEPTIDE TRANSPORTER PSF2 POLYMORPHISM
Variant	0002
Related	also

ClinVar
Risk	rs241447(G;G)
Alt	rs241447(G;G)
Reference	Rs241447(A;A)
Significance	Non-pathogenic
Disease	PEPTIDE TRANSPORTER PSF2 POLYMORPHISM not specified
Variation	info
Gene	TAP2
CLNDBN	PEPTIDE TRANSPORTER PSF2 POLYMORPHISM not specified
Reversed	1
HGVS	NC_000006.11:g.32796751T\x3d; NC_000006.11:g.32796751T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014728.2, RCV000455618.1,

[PMID 17192492] Genetic control of alternative splicing in the TAP2 gene: possible implication in the genetics of type 1 diabetes.

[PMID 17708757] Genome bioinformatic analysis of nonsynonymous SNPs.

[PMID 19387463] Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC.

[PMID 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

[PMID 23395648] Genetic evidence of TAP1 gene variant as a susceptibility factor in Indian leprosy patients.