rs1057516817

Orientation

plus

Stabilized

plus

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

Make rs1057516817(C;C)

Make rs1057516817(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

7220199

Gene	ACADVL, DLG4

is a	snp
is	mentioned by
dbSNP	rs1057516817
dbSNP (classic)	rs1057516817
ClinGen	rs1057516817
ebi	rs1057516817
HLI	rs1057516817
Exac	rs1057516817
Gnomad	rs1057516817
Varsome	rs1057516817
LitVar	rs1057516817
Map	rs1057516817
PheGenI	rs1057516817
Biobank	rs1057516817
1000 genomes	rs1057516817
hgdp	rs1057516817
ensembl	rs1057516817
geneview	rs1057516817
scholar	rs1057516817
google	rs1057516817
pharmgkb	rs1057516817
gwascentral	rs1057516817
openSNP	rs1057516817
23andMe	rs1057516817
SNPshot	rs1057516817
SNPdbe	rs1057516817
MSV3d	rs1057516817
GWAS Ctlg	rs1057516817

Max Magnitude

0

ClinVar
Risk	rs1057516817(C;C)
Alt	rs1057516817(C;C)
Reference	Rs1057516817(T;T)
Significance	Probable-Pathogenic
Disease	Very long chain acyl-CoA dehydrogenase deficiency
Variation	info
Gene	DLG4 ACADVL
CLNDBN	Very long chain acyl-CoA dehydrogenase deficiency
Reversed	0
HGVS	NC_000017.10:g.7123518T>C
CLNSRC
CLNACC	RCV000410269.1,