rs1057516769

Orientation

plus

Stabilized

plus

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

Make rs1057516769(-;T)

Make rs1057516769(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

40413047

Gene

IVD

is a	snp
is	mentioned by
dbSNP	rs1057516769
dbSNP (classic)	rs1057516769
ClinGen	rs1057516769
ebi	rs1057516769
HLI	rs1057516769
Exac	rs1057516769
Gnomad	rs1057516769
Varsome	rs1057516769
LitVar	rs1057516769
Map	rs1057516769
PheGenI	rs1057516769
Biobank	rs1057516769
1000 genomes	rs1057516769
hgdp	rs1057516769
ensembl	rs1057516769
geneview	rs1057516769
scholar	rs1057516769
google	rs1057516769
pharmgkb	rs1057516769
gwascentral	rs1057516769
openSNP	rs1057516769
23andMe	rs1057516769
SNPshot	rs1057516769
SNPdbe	rs1057516769
MSV3d	rs1057516769
GWAS Ctlg	rs1057516769

Max Magnitude

0

ClinVar
Risk	rs1057516769(T;T)
Alt	rs1057516769(T;T)
Reference	Rs1057516769(-;-)
Significance	Probable-Pathogenic
Disease	Isovaleryl-CoA dehydrogenase deficiency
Variation	info
Gene	IVD
CLNDBN	Isovaleryl-CoA dehydrogenase deficiency
Reversed	0
HGVS	NC_000015.9:g.40705246dupT
CLNSRC
CLNACC	RCV000408999.1,