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rs140629318

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140629318(C;C)
Make rs140629318(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position7221966
GeneACADVL, DLG4
is asnp
is mentioned by
dbSNPrs140629318
ebirs140629318
HLIrs140629318
Exacrs140629318
Varsomers140629318
Maprs140629318
PheGenIrs140629318
hapmaprs140629318
1000 genomesrs140629318
hgdprs140629318
ensemblrs140629318
gopubmedrs140629318
geneviewrs140629318
scholarrs140629318
googlers140629318
pharmgkbrs140629318
gwascentralrs140629318
openSNPrs140629318
23andMers140629318
23andMe allrs140629318
SNP Nexus

SNPshotrs140629318
SNPdbers140629318
MSV3drs140629318
GWAS Ctlgrs140629318
Max Magnitude0
ClinVar
Risk rs140629318(A,C;A,C)
Alt rs140629318(A,C;A,C)
Reference rs140629318(G;G)
Significance Pathogenic
Disease Very long chain acyl-CoA dehydrogenase deficiency not provided
Variation info
Gene DLG4 ACADVL
CLNDBN Very long chain acyl-CoA dehydrogenase deficiency not provided
Reversed 0
HGVS NC_000017.10:g.7125285G>A; NC_000017.10:g.7125285G>C
CLNSRC HGMD
CLNACC RCV000180089.1, RCV000185713.1, RCV000152737.3,