rs28935476

Orientation

minus

Stabilized

minus

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

Make rs28935476(C;G)

Make rs28935476(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

53432110

Gene

HSD17B10

is a	snp
is	mentioned by
dbSNP	rs28935476
dbSNP (classic)	rs28935476
ClinGen	rs28935476
ebi	rs28935476
HLI	rs28935476
Exac	rs28935476
Gnomad	rs28935476
Varsome	rs28935476
LitVar	rs28935476
Map	rs28935476
PheGenI	rs28935476
Biobank	rs28935476
1000 genomes	rs28935476
hgdp	rs28935476
ensembl	rs28935476
geneview	rs28935476
scholar	rs28935476
google	rs28935476
pharmgkb	rs28935476
gwascentral	rs28935476
openSNP	rs28935476
23andMe	rs28935476
SNPshot	rs28935476
SNPdbe	rs28935476
MSV3d	rs28935476
GWAS Ctlg	rs28935476

Max Magnitude

0

OMIM	300256
Desc	2-@METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
Variant	0002
Related	also

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 UniProtKB (protein)
CLNACC	RCV000012196.12,