rs113994169

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs113994169(C;T)

Make rs113994169(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7223687

Gene	ACADVL, MIR324

is a	snp
is	mentioned by
dbSNP	rs113994169
dbSNP (classic)	rs113994169
ClinGen	rs113994169
ebi	rs113994169
HLI	rs113994169
Exac	rs113994169
Gnomad	rs113994169
Varsome	rs113994169
LitVar	rs113994169
Map	rs113994169
PheGenI	rs113994169
Biobank	rs113994169
1000 genomes	rs113994169
hgdp	rs113994169
ensembl	rs113994169
geneview	rs113994169
scholar	rs113994169
google	rs113994169
pharmgkb	rs113994169
gwascentral	rs113994169
openSNP	rs113994169
23andMe	rs113994169
SNPshot	rs113994169
SNPdbe	rs113994169
MSV3d	rs113994169
GWAS Ctlg	rs113994169

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs113994169(G;G) rs113994169(T;T)
Alt	rs113994169(G;G) rs113994169(T;T)
Reference	Rs113994169(C;C)
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.7127006C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020069.1,

OMIM	201475
Desc
Variant
Related	also