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rs1057517012

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517012(G;T)
Make rs1057517012(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7220677
GeneACADVL, DLG4
is asnp
is mentioned by
dbSNPrs1057517012
dbSNP (old)rs1057517012
ClinGenrs1057517012
ebirs1057517012
HLIrs1057517012
Exacrs1057517012
Gnomadrs1057517012
Varsomers1057517012
LitVarrs1057517012
Maprs1057517012
PheGenIrs1057517012
Biobankrs1057517012
1000 genomesrs1057517012
hgdprs1057517012
ensemblrs1057517012
gopubmedrs1057517012
geneviewrs1057517012
scholarrs1057517012
googlers1057517012
pharmgkbrs1057517012
gwascentralrs1057517012
openSNPrs1057517012
23andMers1057517012
23andMe allrs1057517012
SNPshotrs1057517012
SNPdbers1057517012
MSV3drs1057517012
GWAS Ctlgrs1057517012
Max Magnitude0
ClinVar
Risk rs1057517012(T;T)
Alt rs1057517012(T;T)
Reference Rs1057517012(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.7123996G>T
CLNSRC
CLNACC RCV000412197.1,