rs122461163

Orientation

minus

Stabilized

minus

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

Make rs122461163(A;G)

Make rs122461163(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

53431450

Gene	HSD17B10, RIBC1

is a	snp
is	mentioned by
dbSNP	rs122461163
dbSNP (classic)	rs122461163
ClinGen	rs122461163
ebi	rs122461163
HLI	rs122461163
Exac	rs122461163
Gnomad	rs122461163
Varsome	rs122461163
LitVar	rs122461163
Map	rs122461163
PheGenI	rs122461163
Biobank	rs122461163
1000 genomes	rs122461163
hgdp	rs122461163
ensembl	rs122461163
geneview	rs122461163
scholar	rs122461163
google	rs122461163
pharmgkb	rs122461163
gwascentral	rs122461163
openSNP	rs122461163
23andMe	rs122461163
SNPshot	rs122461163
SNPdbe	rs122461163
MSV3d	rs122461163
GWAS Ctlg	rs122461163

Max Magnitude

0

OMIM	300256
Desc
Variant	0003
Related	also

ClinVar
Risk	rs122461163(G;G)
Alt	rs122461163(G;G)
Reference	Rs122461163(A;A)
Significance	Pathogenic
Disease	2-methyl-3-hydroxybutyric aciduria
Variation	info
Gene	HSD17B10 RIBC1
CLNDBN	2-methyl-3-hydroxybutyric aciduria
Reversed	1
HGVS	NC_000023.10:g.53458398T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012197.21,