rs2229311

Orientation

plus

Stabilized

plus

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

Make rs2229311(A;A)

Make rs2229311(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

40407640

Gene

IVD

is a	snp
is	mentioned by
dbSNP	rs2229311
dbSNP (classic)	rs2229311
ClinGen	rs2229311
ebi	rs2229311
HLI	rs2229311
Exac	rs2229311
Gnomad	rs2229311
Varsome	rs2229311
LitVar	rs2229311
Map	rs2229311
PheGenI	rs2229311
Biobank	rs2229311
1000 genomes	rs2229311
hgdp	rs2229311
ensembl	rs2229311
geneview	rs2229311
scholar	rs2229311
google	rs2229311
pharmgkb	rs2229311
gwascentral	rs2229311
openSNP	rs2229311
23andMe	rs2229311
SNPshot	rs2229311
SNPdbe	rs2229311
MSV3d	rs2229311
GWAS Ctlg	rs2229311

Max Magnitude

0

ClinVar
Risk	rs2229311(A;A) rs2229311(C;C)
Alt	rs2229311(A;A) rs2229311(C;C)
Reference	Rs2229311(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.40699841G>A; NC_000015.9:g.40699841G>C
CLNSRC
CLNACC	RCV000411182.1, RCV000169289.1,