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rs62626305

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62626305(C;C)
Make rs62626305(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53431445
GeneHSD17B10, RIBC1
is asnp
is mentioned by
dbSNPrs62626305
ebirs62626305
HLIrs62626305
Exacrs62626305
Varsomers62626305
Maprs62626305
PheGenIrs62626305
hapmaprs62626305
1000 genomesrs62626305
hgdprs62626305
ensemblrs62626305
gopubmedrs62626305
geneviewrs62626305
scholarrs62626305
googlers62626305
pharmgkbrs62626305
gwascentralrs62626305
openSNPrs62626305
23andMers62626305
23andMe allrs62626305
SNP Nexus

SNPshotrs62626305
SNPdbers62626305
MSV3drs62626305
GWAS Ctlgrs62626305
Max Magnitude0
OMIM300256
Desc
Variant0005
Relatedalso


ClinVar
Risk rs62626305(C;C)
Alt rs62626305(C;C)
Reference rs62626305(G;G)
Significance Pathogenic
Disease 2-methyl-3-hydroxybutyric aciduria
Variation info
Gene HSD17B10 RIBC1
CLNDBN 2-methyl-3-hydroxybutyric aciduria
Reversed 1
HGVS NC_000023.10:g.53458393C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012199.12,



[PMID 19706438OA-icon.png] Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.