rs778922921

Orientation

plus

Stabilized

plus

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

Make rs778922921(A;A)

Make rs778922921(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

190296956

Gene

HIBCH

is a	snp
is	mentioned by
dbSNP	rs778922921
dbSNP (classic)	rs778922921
ClinGen	rs778922921
ebi	rs778922921
HLI	rs778922921
Exac	rs778922921
Gnomad	rs778922921
Varsome	rs778922921
LitVar	rs778922921
Map	rs778922921
PheGenI	rs778922921
Biobank	rs778922921
1000 genomes	rs778922921
hgdp	rs778922921
ensembl	rs778922921
geneview	rs778922921
scholar	rs778922921
google	rs778922921
pharmgkb	rs778922921
gwascentral	rs778922921
openSNP	rs778922921
23andMe	rs778922921
SNPshot	rs778922921
SNPdbe	rs778922921
MSV3d	rs778922921
GWAS Ctlg	rs778922921

Max Magnitude

0

ClinVar
Risk	rs778922921(A;A) rs778922921(C;C)
Alt	rs778922921(A;A) rs778922921(C;C)
Reference	Rs778922921(G;G)
Significance	Pathogenic
Disease	Beta-hydroxyisobutyryl-CoA deacylase deficiency
Variation	info
Gene	HIBCH
CLNDBN	Beta-hydroxyisobutyryl-CoA deacylase deficiency
Reversed	0
HGVS	NC_000002.11:g.191161682G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001205.3,