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rs587777651

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777651(C;C)
Make rs587777651(C;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position53432347
GeneHSD17B10
is asnp
is mentioned by
dbSNPrs587777651
dbSNP (classic)rs587777651
ClinGenrs587777651
ebirs587777651
HLIrs587777651
Exacrs587777651
Gnomadrs587777651
Varsomers587777651
LitVarrs587777651
Maprs587777651
PheGenIrs587777651
Biobankrs587777651
1000 genomesrs587777651
hgdprs587777651
ensemblrs587777651
geneviewrs587777651
scholarrs587777651
googlers587777651
pharmgkbrs587777651
gwascentralrs587777651
openSNPrs587777651
23andMers587777651
SNPshotrs587777651
SNPdbers587777651
MSV3drs587777651
GWAS Ctlgrs587777651
Max Magnitude0
ClinVar
Risk rs587777651(C;C) Rs587777651(T;T)
Alt rs587777651(C;C) Rs587777651(T;T)
Reference Rs587777651(A;A)
Significance Pathogenic
Disease 2-methyl-3-hydroxybutyric aciduria
Variation info
Gene HSD17B10
CLNDBN 2-methyl-3-hydroxybutyric aciduria
Reversed 1
HGVS NC_000023.10:g.53459295T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000133540.3,