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rs28935476

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28935476(C;G)
Make rs28935476(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53432110
GeneHSD17B10
is asnp
is mentioned by
dbSNPrs28935476
ebirs28935476
HLIrs28935476
Exacrs28935476
Varsomers28935476
Maprs28935476
PheGenIrs28935476
hapmaprs28935476
1000 genomesrs28935476
hgdprs28935476
ensemblrs28935476
gopubmedrs28935476
geneviewrs28935476
scholarrs28935476
googlers28935476
pharmgkbrs28935476
gwascentralrs28935476
openSNPrs28935476
23andMers28935476
23andMe allrs28935476
SNP Nexus

SNPshotrs28935476
SNPdbers28935476
MSV3drs28935476
GWAS Ctlgrs28935476
Max Magnitude0
OMIM300256
Desc2-@METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
Variant0002
Relatedalso
Neighborrs28935475
Distance24


ClinVar
Risk rs28935476(G;G)
Alt rs28935476(G;G)
Reference rs28935476(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.53459058G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012196.11,