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rs1135216

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs1135216(A;G)
Make rs1135216(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position32847198
GeneTAP1
is asnp
is mentioned by
dbSNPrs1135216
ebirs1135216
HLIrs1135216
Exacrs1135216
Varsomers1135216
Maprs1135216
PheGenIrs1135216
hapmaprs1135216
1000 genomesrs1135216
hgdprs1135216
ensemblrs1135216
gopubmedrs1135216
geneviewrs1135216
scholarrs1135216
googlers1135216
pharmgkbrs1135216
gwascentralrs1135216
openSNPrs1135216
23andMers1135216
23andMe allrs1135216
SNP Nexus

SNPshotrs1135216
SNPdbers1135216
MSV3drs1135216
GWAS Ctlgrs1135216
Merged fromRs17422866, Rs1800453
GMAF0.1873
Max Magnitude0
? (A;A) (A;G) (G;G) 28
? (A;A) (A;G) (G;G)
OMIM170260
Desc
Variant0002
Relatedalso


ClinVar
Risk rs1135216(G;G)
Alt rs1135216(G;G)
Reference rs1135216(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.32814975T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014733.2,



[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-D697G
aa_change Asp697Gly
aa_change_short D697G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.171543
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.