rs2309689

Orientation

plus

Stabilized

plus

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

Make rs2309689(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7223865

Gene	ACADVL, MIR324

is a	snp
is	mentioned by
dbSNP	rs2309689
dbSNP (classic)	rs2309689
ClinGen	rs2309689
ebi	rs2309689
HLI	rs2309689
Exac	rs2309689
Gnomad	rs2309689
Varsome	rs2309689
LitVar	rs2309689
Map	rs2309689
PheGenI	rs2309689
Biobank	rs2309689
1000 genomes	rs2309689
hgdp	rs2309689
ensembl	rs2309689
geneview	rs2309689
scholar	rs2309689
google	rs2309689
pharmgkb	rs2309689
gwascentral	rs2309689
openSNP	rs2309689
23andMe	rs2309689
SNPshot	rs2309689
SNPdbe	rs2309689
MSV3d	rs2309689
GWAS Ctlg	rs2309689

Max Magnitude

3

?	(A;A) (A;G) (G;G)	28

OMIM	609575
Desc
Variant	0009
Related	also

ClinVar
Risk	rs2309689(A;A)
Alt	rs2309689(A;A)
Reference	Rs2309689(G;G)
Significance	Pathogenic
Disease	Very long chain acyl-CoA dehydrogenase deficiency not provided
Variation	info
Gene	MIR324 ACADVL
CLNDBN	Very long chain acyl-CoA dehydrogenase deficiency not provided
Reversed	0
HGVS	NC_000017.10:g.7127184G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020072.3, RCV000077903.4,