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rs786204536

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204536(C;T)
Make rs786204536(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position7222014
GeneACADVL, DLG4
is asnp
is mentioned by
dbSNPrs786204536
dbSNP (classic)rs786204536
ClinGenrs786204536
ebirs786204536
HLIrs786204536
Exacrs786204536
Gnomadrs786204536
Varsomers786204536
LitVarrs786204536
Maprs786204536
PheGenIrs786204536
Biobankrs786204536
1000 genomesrs786204536
hgdprs786204536
ensemblrs786204536
geneviewrs786204536
scholarrs786204536
googlers786204536
pharmgkbrs786204536
gwascentralrs786204536
openSNPrs786204536
23andMers786204536
SNPshotrs786204536
SNPdbers786204536
MSV3drs786204536
GWAS Ctlgrs786204536
Max Magnitude0
ClinVar
Risk rs786204536(T;T)
Alt rs786204536(T;T)
Reference Rs786204536(C;C)
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.7125333C>T
CLNSRC
CLNACC RCV000169238.1,