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rs28935475

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28935475(C;T)
Make rs28935475(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53432086
GeneHSD17B10
is asnp
is mentioned by
dbSNPrs28935475
ebirs28935475
HLIrs28935475
Exacrs28935475
Varsomers28935475
Maprs28935475
PheGenIrs28935475
hapmaprs28935475
1000 genomesrs28935475
hgdprs28935475
ensemblrs28935475
gopubmedrs28935475
geneviewrs28935475
scholarrs28935475
googlers28935475
pharmgkbrs28935475
gwascentralrs28935475
openSNPrs28935475
23andMers28935475
23andMe allrs28935475
SNP Nexus

SNPshotrs28935475
SNPdbers28935475
MSV3drs28935475
GWAS Ctlgrs28935475
Max Magnitude0
OMIM300256
Desc2-@METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
Variant0001
Relatedalso
Neighborrs28935476
Distance24


ClinVar
Risk rs28935475(T;T)
Alt rs28935475(T;T)
Reference rs28935475(C;C)
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.53459034G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012195.14,



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