rs928991928

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

40405972

Gene

IVD

is a	snp
is	mentioned by
dbSNP	rs928991928
dbSNP (classic)	rs928991928
ClinGen	rs928991928
ebi	rs928991928
HLI	rs928991928
Exac	rs928991928
Gnomad	rs928991928
Varsome	rs928991928
LitVar	rs928991928
Map	rs928991928
PheGenI	rs928991928
Biobank	rs928991928
1000 genomes	rs928991928
hgdp	rs928991928
ensembl	rs928991928
geneview	rs928991928
scholar	rs928991928
google	rs928991928
pharmgkb	rs928991928
gwascentral	rs928991928
openSNP	rs928991928
23andMe	rs928991928
SNPshot	rs928991928
SNPdbe	rs928991928
MSV3d	rs928991928
GWAS Ctlg	rs928991928

Max Magnitude

0

ClinVar
Risk	rs928991928(C;C)
Alt	rs928991928(C;C)
Reference	Rs928991928(G;G)
Significance	Probable-Pathogenic
Disease	Isovaleryl-CoA dehydrogenase deficiency
Variation	info
Gene
CLNDBN	Isovaleryl-CoA dehydrogenase deficiency
Reversed	0
HGVS	NC_000015.9:g.40698173G>A
CLNSRC
CLNACC	RCV000412035.1,