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rs1057141

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057141(A;G)
Make rs1057141(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position32850997
GeneTAP1
is asnp
is mentioned by
dbSNPrs1057141
ebirs1057141
HLIrs1057141
Exacrs1057141
Varsomers1057141
Maprs1057141
PheGenIrs1057141
hapmaprs1057141
1000 genomesrs1057141
hgdprs1057141
ensemblrs1057141
gopubmedrs1057141
geneviewrs1057141
scholarrs1057141
googlers1057141
pharmgkbrs1057141
gwascentralrs1057141
openSNPrs1057141
23andMers1057141
23andMe allrs1057141
SNP Nexus

SNPshotrs1057141
SNPdbers1057141
MSV3drs1057141
GWAS Ctlgrs1057141
Merged fromRs4148880
GMAF0.2034
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM170260
DescPEPTIDE TRANSPORTER PSF1 POLYMORPHISM
Variant0001
Relatedalso


ClinVar
Risk rs1057141(G;G)
Alt rs1057141(G;G)
Reference rs1057141(A;A)
Significance Non-pathogenic
Disease PEPTIDE TRANSPORTER PSF1 POLYMORPHISM
Variation info
Gene TAP1
CLNDBN PEPTIDE TRANSPORTER PSF1 POLYMORPHISM
Reversed 1
HGVS NC_000006.11:g.32818774T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014732.2,



[PMID 12830434OA-icon.png] BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy.


[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
TAP1-I393V
aa_change Ile393Val
aa_change_short I393V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.197155
summary



[PMID 23272491] [Relationship between rs1057141 and rs1135216 polymorphisms of TAP1 gene and allergic rhinitis in Xinjiang Han people]


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