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rs80358232

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358232(C;T)
Make rs80358232(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50523738
GeneNCAPH2, SCO2
is asnp
is mentioned by
dbSNPrs80358232
ebirs80358232
HLIrs80358232
Exacrs80358232
Varsomers80358232
Maprs80358232
PheGenIrs80358232
hapmaprs80358232
1000 genomesrs80358232
hgdprs80358232
ensemblrs80358232
gopubmedrs80358232
geneviewrs80358232
scholarrs80358232
googlers80358232
pharmgkbrs80358232
gwascentralrs80358232
openSNPrs80358232
23andMers80358232
23andMe allrs80358232
SNP Nexus

SNPshotrs80358232
SNPdbers80358232
MSV3drs80358232
GWAS Ctlgrs80358232
Max Magnitude0
OMIM604272
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80358232(T;T)
Alt rs80358232(T;T)
Reference rs80358232(C;C)
Significance Pathogenic
Disease Cardioencephalomyopathy
Variation info
Gene SCO2 NCAPH2
CLNDBN Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
Reversed 1
HGVS NC_000022.10:g.50962167G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006033.2,