rs121918329

Orientation

minus

Stabilized

minus

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

Make rs121918329(A;G)

Make rs121918329(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

190290425

Gene

HIBCH

is a	snp
is	mentioned by
dbSNP	rs121918329
dbSNP (classic)	rs121918329
ClinGen	rs121918329
ebi	rs121918329
HLI	rs121918329
Exac	rs121918329
Gnomad	rs121918329
Varsome	rs121918329
LitVar	rs121918329
Map	rs121918329
PheGenI	rs121918329
Biobank	rs121918329
1000 genomes	rs121918329
hgdp	rs121918329
ensembl	rs121918329
geneview	rs121918329
scholar	rs121918329
google	rs121918329
pharmgkb	rs121918329
gwascentral	rs121918329
openSNP	rs121918329
23andMe	rs121918329
SNPshot	rs121918329
SNPdbe	rs121918329
MSV3d	rs121918329
GWAS Ctlg	rs121918329

Max Magnitude

0

OMIM	610690
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918329(G;G)
Alt	rs121918329(G;G)
Reference	Rs121918329(A;A)
Significance	Pathogenic
Disease	Beta-hydroxyisobutyryl-CoA deacylase deficiency not provided
Variation	info
Gene	HIBCH
CLNDBN	Beta-hydroxyisobutyryl-CoA deacylase deficiency not provided
Reversed	1
HGVS	NC_000002.11:g.191155151T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001204.3, RCV000224374.1,