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rs387907099

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907099(C;C)
Make rs387907099(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position98604134
GeneCOA5
is asnp
is mentioned by
dbSNPrs387907099
ebirs387907099
HLIrs387907099
Exacrs387907099
Varsomers387907099
Maprs387907099
PheGenIrs387907099
hapmaprs387907099
1000 genomesrs387907099
hgdprs387907099
ensemblrs387907099
gopubmedrs387907099
geneviewrs387907099
scholarrs387907099
googlers387907099
pharmgkbrs387907099
gwascentralrs387907099
openSNPrs387907099
23andMers387907099
23andMe allrs387907099
SNP Nexus

SNPshotrs387907099
SNPdbers387907099
MSV3drs387907099
GWAS Ctlgrs387907099
Max Magnitude0
ClinVar
Risk rs387907099(C;C)
Alt rs387907099(C;C)
Reference rs387907099(G;G)
Significance Pathogenic
Disease Cardioencephalomyopathy
Variation info
Gene COA5
CLNDBN Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Reversed 1
HGVS NC_000002.11:g.99220597C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024082.3,