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rs397515466

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515466(C;T)
Make rs397515466(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position13002311
GeneELAC2
is asnp
is mentioned by
dbSNPrs397515466
ebirs397515466
HLIrs397515466
Exacrs397515466
Varsomers397515466
Maprs397515466
PheGenIrs397515466
hapmaprs397515466
1000 genomesrs397515466
hgdprs397515466
ensemblrs397515466
gopubmedrs397515466
geneviewrs397515466
scholarrs397515466
googlers397515466
pharmgkbrs397515466
gwascentralrs397515466
openSNPrs397515466
23andMers397515466
23andMe allrs397515466
SNP Nexus

SNPshotrs397515466
SNPdbers397515466
MSV3drs397515466
GWAS Ctlgrs397515466
Max Magnitude0
ClinVar
Risk rs397515466(T;T)
Alt rs397515466(T;T)
Reference rs397515466(C;C)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 17
Variation info
Gene ELAC2
CLNDBN Combined oxidative phosphorylation deficiency 17
Reversed 1
HGVS NC_000017.10:g.12905628G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000056277.3,