rs786204004

Orientation

minus

Stabilized

minus

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

Make rs786204004(A;A)

Make rs786204004(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

190213017

Gene

HIBCH

is a	snp
is	mentioned by
dbSNP	rs786204004
dbSNP (classic)	rs786204004
ClinGen	rs786204004
ebi	rs786204004
HLI	rs786204004
Exac	rs786204004
Gnomad	rs786204004
Varsome	rs786204004
LitVar	rs786204004
Map	rs786204004
PheGenI	rs786204004
Biobank	rs786204004
1000 genomes	rs786204004
hgdp	rs786204004
ensembl	rs786204004
geneview	rs786204004
scholar	rs786204004
google	rs786204004
pharmgkb	rs786204004
gwascentral	rs786204004
openSNP	rs786204004
23andMe	rs786204004
SNPshot	rs786204004
SNPdbe	rs786204004
MSV3d	rs786204004
GWAS Ctlg	rs786204004

Max Magnitude

0

ClinVar
Risk	rs786204004(A;A)
Alt	rs786204004(A;A)
Reference	Rs786204004(G;G)
Significance	Pathogenic
Disease	Beta-hydroxyisobutyryl-CoA deacylase deficiency
Variation	info
Gene	HIBCH
CLNDBN	Beta-hydroxyisobutyryl-CoA deacylase deficiency
Reversed	1
HGVS	NC_000002.11:g.191077743C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000167584.3,