rs1057517130

Orientation

plus

Stabilized

plus

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

Make rs1057517130(C;C)

Make rs1057517130(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

7221537

Gene	ACADVL, DLG4

is a	snp
is	mentioned by
dbSNP	rs1057517130
dbSNP (classic)	rs1057517130
ClinGen	rs1057517130
ebi	rs1057517130
HLI	rs1057517130
Exac	rs1057517130
Gnomad	rs1057517130
Varsome	rs1057517130
LitVar	rs1057517130
Map	rs1057517130
PheGenI	rs1057517130
Biobank	rs1057517130
1000 genomes	rs1057517130
hgdp	rs1057517130
ensembl	rs1057517130
geneview	rs1057517130
scholar	rs1057517130
google	rs1057517130
pharmgkb	rs1057517130
gwascentral	rs1057517130
openSNP	rs1057517130
23andMe	rs1057517130
SNPshot	rs1057517130
SNPdbe	rs1057517130
MSV3d	rs1057517130
GWAS Ctlg	rs1057517130

Max Magnitude

0

ClinVar
Risk	rs1057517130(C;C)
Alt	rs1057517130(C;C)
Reference	Rs1057517130(G;G)
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.7124856G>C
CLNSRC
CLNACC	RCV000411583.1,