rs398123683

Orientation

plus

Stabilized

plus

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

Make rs398123683(C;C)

Make rs398123683(C;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

40410799

Gene

IVD

is a	snp
is	mentioned by
dbSNP	rs398123683
dbSNP (classic)	rs398123683
ClinGen	rs398123683
ebi	rs398123683
HLI	rs398123683
Exac	rs398123683
Gnomad	rs398123683
Varsome	rs398123683
LitVar	rs398123683
Map	rs398123683
PheGenI	rs398123683
Biobank	rs398123683
1000 genomes	rs398123683
hgdp	rs398123683
ensembl	rs398123683
geneview	rs398123683
scholar	rs398123683
google	rs398123683
pharmgkb	rs398123683
gwascentral	rs398123683
openSNP	rs398123683
23andMe	rs398123683
SNPshot	rs398123683
SNPdbe	rs398123683
MSV3d	rs398123683
GWAS Ctlg	rs398123683

Max Magnitude

0

ClinVar
Risk	rs398123683(C;C)
Alt	rs398123683(C;C)
Reference	Rs398123683(T;T)
Significance	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.40702998T>C
CLNSRC	HGMD
CLNACC	RCV000079999.3, RCV000178177.1,