rs1057516703

Orientation

plus

Stabilized

plus

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

Make rs1057516703(A;A)

Make rs1057516703(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

40405972

Gene

IVD

is a	snp
is	mentioned by
dbSNP	rs1057516703
dbSNP (classic)	rs1057516703
ClinGen	rs1057516703
ebi	rs1057516703
HLI	rs1057516703
Exac	rs1057516703
Gnomad	rs1057516703
Varsome	rs1057516703
LitVar	rs1057516703
Map	rs1057516703
PheGenI	rs1057516703
Biobank	rs1057516703
1000 genomes	rs1057516703
hgdp	rs1057516703
ensembl	rs1057516703
geneview	rs1057516703
scholar	rs1057516703
google	rs1057516703
pharmgkb	rs1057516703
gwascentral	rs1057516703
openSNP	rs1057516703
23andMe	rs1057516703
SNPshot	rs1057516703
SNPdbe	rs1057516703
MSV3d	rs1057516703
GWAS Ctlg	rs1057516703

Max Magnitude

0

ClinVar
Risk	rs1057516703(A;A)
Alt	rs1057516703(A;A)
Reference	Rs1057516703(G;G)
Significance	Probable-Pathogenic
Disease	Isovaleryl-CoA dehydrogenase deficiency
Variation	info
Gene	IVD
CLNDBN	Isovaleryl-CoA dehydrogenase deficiency
Reversed	0
HGVS	NC_000015.9:g.40698173G>A
CLNSRC
CLNACC	RCV000412035.1,