rs1057517056

Orientation

plus

Stabilized

plus

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

Make rs1057517056(A;G)

Make rs1057517056(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

40416076

Gene

IVD

is a	snp
is	mentioned by
dbSNP	rs1057517056
dbSNP (classic)	rs1057517056
ClinGen	rs1057517056
ebi	rs1057517056
HLI	rs1057517056
Exac	rs1057517056
Gnomad	rs1057517056
Varsome	rs1057517056
LitVar	rs1057517056
Map	rs1057517056
PheGenI	rs1057517056
Biobank	rs1057517056
1000 genomes	rs1057517056
hgdp	rs1057517056
ensembl	rs1057517056
geneview	rs1057517056
scholar	rs1057517056
google	rs1057517056
pharmgkb	rs1057517056
gwascentral	rs1057517056
openSNP	rs1057517056
23andMe	rs1057517056
SNPshot	rs1057517056
SNPdbe	rs1057517056
MSV3d	rs1057517056
GWAS Ctlg	rs1057517056

Max Magnitude

0

ClinVar
Risk	rs1057517056(G;G)
Alt	rs1057517056(G;G)
Reference	Rs1057517056(A;A)
Significance	Probable-Pathogenic
Disease	Isovaleryl-CoA dehydrogenase deficiency
Variation	info
Gene	IVD
CLNDBN	Isovaleryl-CoA dehydrogenase deficiency
Reversed	0
HGVS	NC_000015.9:g.40708275A>G
CLNSRC
CLNACC	RCV000409066.1,