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rs397515465

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515465(C;C)
Make rs397515465(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position13014469
GeneELAC2
is asnp
is mentioned by
dbSNPrs397515465
ebirs397515465
HLIrs397515465
Exacrs397515465
Varsomers397515465
Maprs397515465
PheGenIrs397515465
hapmaprs397515465
1000 genomesrs397515465
hgdprs397515465
ensemblrs397515465
gopubmedrs397515465
geneviewrs397515465
scholarrs397515465
googlers397515465
pharmgkbrs397515465
gwascentralrs397515465
openSNPrs397515465
23andMers397515465
23andMe allrs397515465
SNP Nexus

SNPshotrs397515465
SNPdbers397515465
MSV3drs397515465
GWAS Ctlgrs397515465
Max Magnitude0
ClinVar
Risk rs397515465(C;C)
Alt rs397515465(C;C)
Reference rs397515465(T;T)
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.12917786A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000056276.3,