rs779901247

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	Carrier of a VLCAD deficiency mutation

Make rs779901247(C;T)

Make rs779901247(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

7224215

Gene	ACADVL, MIR324

is a	snp
is	mentioned by
dbSNP	rs779901247
dbSNP (classic)	rs779901247
ClinGen	rs779901247
ebi	rs779901247
HLI	rs779901247
Exac	rs779901247
Gnomad	rs779901247
Varsome	rs779901247
LitVar	rs779901247
Map	rs779901247
PheGenI	rs779901247
Biobank	rs779901247
1000 genomes	rs779901247
hgdp	rs779901247
ensembl	rs779901247
geneview	rs779901247
scholar	rs779901247
google	rs779901247
pharmgkb	rs779901247
gwascentral	rs779901247
openSNP	rs779901247
23andMe	rs779901247
SNPshot	rs779901247
SNPdbe	rs779901247
MSV3d	rs779901247
GWAS Ctlg	rs779901247

Max Magnitude

3

ClinVar
Risk	rs779901247(G;G) rs779901247(T;T)
Alt	rs779901247(G;G) rs779901247(T;T)
Reference	Rs779901247(C;C)
Significance	Probable-Pathogenic
Disease	Very long chain acyl-CoA dehydrogenase deficiency
Variation	info
Gene	MIR324 ACADVL
CLNDBN	Very long chain acyl-CoA dehydrogenase deficiency
Reversed	0
HGVS	NC_000017.10:g.7127534C>G
CLNSRC
CLNACC	RCV000352142.1,