rs122462164

Orientation

minus

Stabilized

minus

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

Make rs122462164(A;A)

Make rs122462164(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

53431819

Gene

HSD17B10

is a	snp
is	mentioned by
dbSNP	rs122462164
dbSNP (classic)	rs122462164
ClinGen	rs122462164
ebi	rs122462164
HLI	rs122462164
Exac	rs122462164
Gnomad	rs122462164
Varsome	rs122462164
LitVar	rs122462164
Map	rs122462164
PheGenI	rs122462164
Biobank	rs122462164
1000 genomes	rs122462164
hgdp	rs122462164
ensembl	rs122462164
geneview	rs122462164
scholar	rs122462164
google	rs122462164
pharmgkb	rs122462164
gwascentral	rs122462164
openSNP	rs122462164
23andMe	rs122462164
SNPshot	rs122462164
SNPdbe	rs122462164
MSV3d	rs122462164
GWAS Ctlg	rs122462164

Max Magnitude

0

OMIM	300256
Desc
Variant	0004
Related	also

ClinVar
Risk	rs122462164(A;A)
Alt	rs122462164(A;A)
Reference	Rs122462164(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.53458767G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012198.13,