rs118204015

Orientation

plus

Stabilized

plus

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

Make rs118204015(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7223199

Gene	ACADVL, MIR324

is a	snp
is	mentioned by
dbSNP	rs118204015
dbSNP (classic)	rs118204015
ClinGen	rs118204015
ebi	rs118204015
HLI	rs118204015
Exac	rs118204015
Gnomad	rs118204015
Varsome	rs118204015
LitVar	rs118204015
Map	rs118204015
PheGenI	rs118204015
Biobank	rs118204015
1000 genomes	rs118204015
hgdp	rs118204015
ensembl	rs118204015
geneview	rs118204015
scholar	rs118204015
google	rs118204015
pharmgkb	rs118204015
gwascentral	rs118204015
openSNP	rs118204015
23andMe	rs118204015
SNPshot	rs118204015
SNPdbe	rs118204015
MSV3d	rs118204015
GWAS Ctlg	rs118204015

Max Magnitude

3

OMIM	609575
Desc
Variant	0008
Related	also

ClinVar
Risk	rs118204015(C;C)
Alt	rs118204015(C;C)
Reference	Rs118204015(A;A)
Significance	Pathogenic
Disease	Very long chain acyl-CoA dehydrogenase deficiency
Variation	info
Gene	ACADVL MIR324
CLNDBN	Very long chain acyl-CoA dehydrogenase deficiency
Reversed	0
HGVS	NC_000017.10:g.7126518A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001695.3,