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rs241447

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs241447(A;G)
Make rs241447(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position32828974
GeneTAP2
is asnp
is mentioned by
dbSNPrs241447
ebirs241447
HLIrs241447
Exacrs241447
Varsomers241447
Maprs241447
PheGenIrs241447
hapmaprs241447
1000 genomesrs241447
hgdprs241447
ensemblrs241447
gopubmedrs241447
geneviewrs241447
scholarrs241447
googlers241447
pharmgkbrs241447
gwascentralrs241447
openSNPrs241447
23andMers241447
23andMe allrs241447
SNP Nexus

SNPshotrs241447
SNPdbers241447
MSV3drs241447
GWAS Ctlgrs241447
Merged fromRs111033561
GMAF0.2842
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM170261
DescPEPTIDE TRANSPORTER PSF2 POLYMORPHISM
Variant0002
Relatedalso
Neighborrs241448
Distance66


ClinVar
Risk rs241447(G;G)
Alt rs241447(G;G)
Reference rs241447(A;A)
Significance Non-pathogenic
Disease PEPTIDE TRANSPORTER PSF2 POLYMORPHISM
Variation info
Gene TAP2
CLNDBN PEPTIDE TRANSPORTER PSF2 POLYMORPHISM
Reversed 1
HGVS NC_000006.11:g.32796751T\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000014728.2,



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


[PMID 17708757OA-icon.png] Genome bioinformatic analysis of nonsynonymous SNPs.


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


GET Evidence
TAP2-T665A
aa_change Thr665Ala
aa_change_short T665A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.19595
summary



[PMID 22911334OA-icon.png] 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.