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rs397515464

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515464(A;T)
Make rs397515464(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position13005967
GeneELAC2
is asnp
is mentioned by
dbSNPrs397515464
ebirs397515464
HLIrs397515464
Exacrs397515464
Varsomers397515464
Maprs397515464
PheGenIrs397515464
hapmaprs397515464
1000 genomesrs397515464
hgdprs397515464
ensemblrs397515464
gopubmedrs397515464
geneviewrs397515464
scholarrs397515464
googlers397515464
pharmgkbrs397515464
gwascentralrs397515464
openSNPrs397515464
23andMers397515464
23andMe allrs397515464
SNP Nexus

SNPshotrs397515464
SNPdbers397515464
MSV3drs397515464
GWAS Ctlgrs397515464
Max Magnitude0
ClinVar
Risk rs397515464(T;T)
Alt rs397515464(T;T)
Reference rs397515464(A;A)
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.12909284T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000056275.2,