rs140989450

Orientation

plus

Stabilized

plus

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

Make rs140989450(A;A)

Make rs140989450(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

7222866

Gene	ACADVL, MIR324

is a	snp
is	mentioned by
dbSNP	rs140989450
dbSNP (classic)	rs140989450
ClinGen	rs140989450
ebi	rs140989450
HLI	rs140989450
Exac	rs140989450
Gnomad	rs140989450
Varsome	rs140989450
LitVar	rs140989450
Map	rs140989450
PheGenI	rs140989450
Biobank	rs140989450
1000 genomes	rs140989450
hgdp	rs140989450
ensembl	rs140989450
geneview	rs140989450
scholar	rs140989450
google	rs140989450
pharmgkb	rs140989450
gwascentral	rs140989450
openSNP	rs140989450
23andMe	rs140989450
SNPshot	rs140989450
SNPdbe	rs140989450
MSV3d	rs140989450
GWAS Ctlg	rs140989450

Max Magnitude

3

ClinVar
Risk	rs140989450(A;A) rs140989450(T;T)
Alt	rs140989450(A;A) rs140989450(T;T)
Reference	Rs140989450(G;G)
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.7126185G>T
CLNSRC
CLNACC	RCV000412397.1,