rs118204017

Orientation

plus

Stabilized

plus

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

Make rs118204017(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7224007

Gene	ACADVL, MIR324

is a	snp
is	mentioned by
dbSNP	rs118204017
dbSNP (classic)	rs118204017
ClinGen	rs118204017
ebi	rs118204017
HLI	rs118204017
Exac	rs118204017
Gnomad	rs118204017
Varsome	rs118204017
LitVar	rs118204017
Map	rs118204017
PheGenI	rs118204017
Biobank	rs118204017
1000 genomes	rs118204017
hgdp	rs118204017
ensembl	rs118204017
geneview	rs118204017
scholar	rs118204017
google	rs118204017
pharmgkb	rs118204017
gwascentral	rs118204017
openSNP	rs118204017
23andMe	rs118204017
SNPshot	rs118204017
SNPdbe	rs118204017
MSV3d	rs118204017
GWAS Ctlg	rs118204017

Max Magnitude

3

OMIM	609575
Desc
Variant	0012
Related	also

ClinVar
Risk	rs118204017(C;C)
Alt	rs118204017(C;C)
Reference	Rs118204017(T;T)
Significance	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.7127326T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001699.3,