rs398123680

Orientation

plus

Stabilized

plus

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

Make rs398123680(C;C)

Make rs398123680(C;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

40416356

Gene

IVD

is a	snp
is	mentioned by
dbSNP	rs398123680
dbSNP (classic)	rs398123680
ClinGen	rs398123680
ebi	rs398123680
HLI	rs398123680
Exac	rs398123680
Gnomad	rs398123680
Varsome	rs398123680
LitVar	rs398123680
Map	rs398123680
PheGenI	rs398123680
Biobank	rs398123680
1000 genomes	rs398123680
hgdp	rs398123680
ensembl	rs398123680
geneview	rs398123680
scholar	rs398123680
google	rs398123680
pharmgkb	rs398123680
gwascentral	rs398123680
openSNP	rs398123680
23andMe	rs398123680
SNPshot	rs398123680
SNPdbe	rs398123680
MSV3d	rs398123680
GWAS Ctlg	rs398123680

Max Magnitude

0

ClinVar
Risk	rs398123680(C;C)
Alt	rs398123680(C;C)
Reference	Rs398123680(T;T)
Significance	Probable-Pathogenic
Disease	not provided Isovaleryl-CoA dehydrogenase deficiency
Variation	info
Gene	IVD
CLNDBN	not provided Isovaleryl-CoA dehydrogenase deficiency
Reversed	0
HGVS	NC_000015.9:g.40708555T>C
CLNSRC	ClinVar Emory University
CLNACC	RCV000079995.3, RCV000174064.2,