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rs1800454

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1.5 affected
(A;G) 1.3 carrier
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome6
Position32832635
GeneTAP2
is asnp
is mentioned by
dbSNPrs1800454
ebirs1800454
HLIrs1800454
Exacrs1800454
Varsomers1800454
Maprs1800454
PheGenIrs1800454
hapmaprs1800454
1000 genomesrs1800454
hgdprs1800454
ensemblrs1800454
gopubmedrs1800454
geneviewrs1800454
scholarrs1800454
googlers1800454
pharmgkbrs1800454
gwascentralrs1800454
openSNPrs1800454
23andMers1800454
23andMe allrs1800454
SNP Nexus

SNPshotrs1800454
SNPdbers1800454
MSV3drs1800454
GWAS Ctlgrs1800454
Merged fromRs104893997
GMAF0.1538
Max Magnitude1.5
? (A;A) (A;G) (G;G) 28
OMIM170261
DescPEPTIDE TRANSPORTER PSF2 POLYMORPHISM
Variant0001
Relatedalso


ClinVar
Risk rs1800454(A;A)
Alt rs1800454(A;A)
Reference rs1800454(G;G)
Significance Non-pathogenic
Disease PEPTIDE TRANSPORTER PSF2 POLYMORPHISM
Variation info
Gene TAP2
CLNDBN PEPTIDE TRANSPORTER PSF2 POLYMORPHISM
Reversed 1
HGVS NC_000006.11:g.32800412C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014727.2,



[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
TAP2-V379I
aa_change Val379Ile
aa_change_short V379I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.138793
summary