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rs1057517130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517130(C;C)
Make rs1057517130(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position7221537
GeneACADVL, DLG4
is asnp
is mentioned by
dbSNPrs1057517130
dbSNP (classic)rs1057517130
ClinGenrs1057517130
ebirs1057517130
HLIrs1057517130
Exacrs1057517130
Gnomadrs1057517130
Varsomers1057517130
LitVarrs1057517130
Maprs1057517130
PheGenIrs1057517130
Biobankrs1057517130
1000 genomesrs1057517130
hgdprs1057517130
ensemblrs1057517130
geneviewrs1057517130
scholarrs1057517130
googlers1057517130
pharmgkbrs1057517130
gwascentralrs1057517130
openSNPrs1057517130
23andMers1057517130
23andMe allrs1057517130
SNPshotrs1057517130
SNPdbers1057517130
MSV3drs1057517130
GWAS Ctlgrs1057517130
Max Magnitude0
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,