rs28935475

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(G;G)	0

Make rs28935475(C;T)

Make rs28935475(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

53432086

Gene

HSD17B10

is a	snp
is	mentioned by
dbSNP	rs28935475
dbSNP (classic)	rs28935475
ClinGen	rs28935475
ebi	rs28935475
HLI	rs28935475
Exac	rs28935475
Gnomad	rs28935475
Varsome	rs28935475
LitVar	rs28935475
Map	rs28935475
PheGenI	rs28935475
Biobank	rs28935475
1000 genomes	rs28935475
hgdp	rs28935475
ensembl	rs28935475
geneview	rs28935475
scholar	rs28935475
google	rs28935475
pharmgkb	rs28935475
gwascentral	rs28935475
openSNP	rs28935475
23andMe	rs28935475
SNPshot	rs28935475
SNPdbe	rs28935475
MSV3d	rs28935475
GWAS Ctlg	rs28935475

Max Magnitude

0

OMIM	300256
Desc	2-@METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000012195.15,

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