rs1057517043

Orientation

plus

Stabilized

plus

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

Make rs1057517043(A;A)

Make rs1057517043(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

40411554

Gene

IVD

is a	snp
is	mentioned by
dbSNP	rs1057517043
dbSNP (classic)	rs1057517043
ClinGen	rs1057517043
ebi	rs1057517043
HLI	rs1057517043
Exac	rs1057517043
Gnomad	rs1057517043
Varsome	rs1057517043
LitVar	rs1057517043
Map	rs1057517043
PheGenI	rs1057517043
Biobank	rs1057517043
1000 genomes	rs1057517043
hgdp	rs1057517043
ensembl	rs1057517043
geneview	rs1057517043
scholar	rs1057517043
google	rs1057517043
pharmgkb	rs1057517043
gwascentral	rs1057517043
openSNP	rs1057517043
23andMe	rs1057517043
SNPshot	rs1057517043
SNPdbe	rs1057517043
MSV3d	rs1057517043
GWAS Ctlg	rs1057517043

Max Magnitude

0

ClinVar
Risk	rs1057517043(A;A)
Alt	rs1057517043(A;A)
Reference	Rs1057517043(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.40703753G>A
CLNSRC
CLNACC	RCV000410323.1,