rs1057516714

Orientation

plus

Stabilized

plus

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

Make rs1057516714(-;-)

Make rs1057516714(-;GTCT)

Make rs1057516714(GTCT;GTCT)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

7221973

Gene	ACADVL, DLG4

is a	snp
is	mentioned by
dbSNP	rs1057516714
dbSNP (classic)	rs1057516714
ClinGen	rs1057516714
ebi	rs1057516714
HLI	rs1057516714
Exac	rs1057516714
Gnomad	rs1057516714
Varsome	rs1057516714
LitVar	rs1057516714
Map	rs1057516714
PheGenI	rs1057516714
Biobank	rs1057516714
1000 genomes	rs1057516714
hgdp	rs1057516714
ensembl	rs1057516714
geneview	rs1057516714
scholar	rs1057516714
google	rs1057516714
pharmgkb	rs1057516714
gwascentral	rs1057516714
openSNP	rs1057516714
23andMe	rs1057516714
SNPshot	rs1057516714
SNPdbe	rs1057516714
MSV3d	rs1057516714
GWAS Ctlg	rs1057516714

Max Magnitude

0

ClinVar
Risk	rs1057516714(-;-)
Alt	rs1057516714(-;-)
Reference	Rs1057516714(TCTG;TCTG)
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.7125292_7125295delGTCT
CLNSRC
CLNACC	RCV000410797.1,