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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
dbSNP (classic)rs627441
ClinGenrs627441
ebirs627441
HLIrs627441
Exacrs627441
Gnomadrs627441
Varsomers627441
LitVarrs627441
Maprs627441
PheGenIrs627441
Biobankrs627441
1000 genomesrs627441
hgdprs627441
ensemblrs627441
geneviewrs627441
scholarrs627441
googlers627441
pharmgkbrs627441
gwascentralrs627441
openSNPrs627441
23andMers627441
23andMe allrs627441
SNPshotrs627441
SNPdbers627441
MSV3drs627441
GWAS Ctlgrs627441
GMAF0.483
Max Magnitude0
? (A;A) (A;G) (G;G) 28





ClinVar
Risk rs627441(C;C) rs627441(G;G)
Alt rs627441(C;C) rs627441(G;G)
Reference Rs627441(A;A)
Significance Probable-non-pathogenic
Disease not specified Pyruvate dehydrogenase complex deficiency
Variation info
Gene DLAT
CLNDBN not specified Pyruvate dehydrogenase complex deficiency
Reversed 1
HGVS NC_000011.9:g.111908162T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000116879.2, RCV000283948.1,