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rs2303436

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 0
(G;G) 0 common in clinvar
Make rs2303436(A;A)
Make rs2303436(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position112025600
GeneDLAT
is asnp
is mentioned by
dbSNPrs2303436
ebirs2303436
HLIrs2303436
Exacrs2303436
Varsomers2303436
Maprs2303436
PheGenIrs2303436
hapmaprs2303436
1000 genomesrs2303436
hgdprs2303436
ensemblrs2303436
gopubmedrs2303436
geneviewrs2303436
scholarrs2303436
googlers2303436
pharmgkbrs2303436
gwascentralrs2303436
openSNPrs2303436
23andMers2303436
23andMe allrs2303436
SNP Nexus

SNPshotrs2303436
SNPdbers2303436
MSV3drs2303436
GWAS Ctlgrs2303436
GMAF0.3792
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene DLAT
allele T
frequency 0.242
sift TOLERATED
HuRef 1103649792825
Disease Association Primary biliary cirrhosis is a chronic, progressive cholestatic liver disease characterized by the presence of antimitochondrial autoantibodies in patients' serum. It manifests with inflammatory obliteration of intra-hepatic bile duct, leading to liver cell damage and cirrhosis. Patients with primary biliary cirrhosis show autoantobodies againts the E2 component of pyruvate dehydrogenase complex.



GET Evidence
DLAT-A43V
aa_change Ala43Val
aa_change_short A43V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.305504
summary



ClinVar
Risk rs2303436(A;A)
Alt rs2303436(A;A)
Reference rs2303436(G;G)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene DLAT
CLNDBN not specified
Reversed 1
HGVS NC_000011.9:g.111896324C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000116877.2,