rs387906249

Orientation

plus

Stabilized

plus

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

Make rs387906249(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7220924

Gene	ACADVL, DLG4

is a	snp
is	mentioned by
dbSNP	rs387906249
dbSNP (classic)	rs387906249
ClinGen	rs387906249
ebi	rs387906249
HLI	rs387906249
Exac	rs387906249
Gnomad	rs387906249
Varsome	rs387906249
LitVar	rs387906249
Map	rs387906249
PheGenI	rs387906249
Biobank	rs387906249
1000 genomes	rs387906249
hgdp	rs387906249
ensembl	rs387906249
geneview	rs387906249
scholar	rs387906249
google	rs387906249
pharmgkb	rs387906249
gwascentral	rs387906249
openSNP	rs387906249
23andMe	rs387906249
SNPshot	rs387906249
SNPdbe	rs387906249
MSV3d	rs387906249
GWAS Ctlg	rs387906249

Merged from

Rs387906250

Max Magnitude

3

ClinVar
Risk	rs387906249(-;-)
Alt	rs387906249(-;-)
Reference	Rs387906249(G;G)
Significance	Other
Disease	Very long chain acyl-CoA dehydrogenase deficiency not provided
Variation	info
Gene	DLG4 ACADVL
CLNDBN	Very long chain acyl-CoA dehydrogenase deficiency not provided
Reversed	0
HGVS	NC_000017.10:g.7124243delG
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000001691.7, RCV000077915.3,