Have questions? Visit https://www.reddit.com/r/SNPedia

rs727503788

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503788(A;A)
Make rs727503788(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position7220124
GeneACADVL, DLG4
is asnp
is mentioned by
dbSNPrs727503788
ebirs727503788
HLIrs727503788
Exacrs727503788
Varsomers727503788
Maprs727503788
PheGenIrs727503788
hapmaprs727503788
1000 genomesrs727503788
hgdprs727503788
ensemblrs727503788
gopubmedrs727503788
geneviewrs727503788
scholarrs727503788
googlers727503788
pharmgkbrs727503788
gwascentralrs727503788
openSNPrs727503788
23andMers727503788
23andMe allrs727503788
SNP Nexus

SNPshotrs727503788
SNPdbers727503788
MSV3drs727503788
GWAS Ctlgrs727503788
Max Magnitude0
ClinVar
Risk rs727503788(A,T;A,T)
Alt rs727503788(A,T;A,T)
Reference rs727503788(C;C)
Significance Pathogenic
Disease not provided Very long chain acyl-CoA dehydrogenase deficiency
Variation info
Gene DLG4 ACADVL
CLNDBN not provided Very long chain acyl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000017.10:g.7123443C>A
CLNSRC HGMD
CLNACC RCV000152732.2, RCV000175507.1,