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rs627441

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(C;T) 0
Make rs627441(A;G)
Make rs627441(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position112037438
GeneDLAT
is asnp
is mentioned by
dbSNPrs627441
ebirs627441
HLIrs627441
Exacrs627441
Varsomers627441
Maprs627441
PheGenIrs627441
hapmaprs627441
1000 genomesrs627441
hgdprs627441
ensemblrs627441
gopubmedrs627441
geneviewrs627441
scholarrs627441
googlers627441
pharmgkbrs627441
gwascentralrs627441
openSNPrs627441
23andMers627441
23andMe allrs627441
SNP Nexus

SNPshotrs627441
SNPdbers627441
MSV3drs627441
GWAS Ctlgrs627441
GMAF0.483
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene DLAT
allele C
frequency 0.258
sift TOLERATED
HuRef 1103649792845
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-V318A
aa_change Val318Ala
aa_change_short V318A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.50158
summary



ClinVar
Risk rs627441(C,G;C,G)
Alt rs627441(C,G;C,G)
Reference rs627441(A;A)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene DLAT
CLNDBN not specified
Reversed 1
HGVS NC_000011.9:g.111908162T>C
CLNSRC ClinVar University of Chicago
CLNACC RCV000116879.2,