Have questions? Visit https://www.reddit.com/r/SNPedia

rs397515463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515463(C;T)
Make rs397515463(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position12996647
GeneELAC2
is asnp
is mentioned by
dbSNPrs397515463
ebirs397515463
HLIrs397515463
Exacrs397515463
Varsomers397515463
Maprs397515463
PheGenIrs397515463
hapmaprs397515463
1000 genomesrs397515463
hgdprs397515463
ensemblrs397515463
gopubmedrs397515463
geneviewrs397515463
scholarrs397515463
googlers397515463
pharmgkbrs397515463
gwascentralrs397515463
openSNPrs397515463
23andMers397515463
23andMe allrs397515463
SNP Nexus

SNPshotrs397515463
SNPdbers397515463
MSV3drs397515463
GWAS Ctlgrs397515463
Max Magnitude0
ClinVar
Risk rs397515463(T;T)
Alt rs397515463(T;T)
Reference rs397515463(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.12899964G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000056274.3,