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rs74315512

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315512(C;T)
Make rs74315512(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50524144
GeneNCAPH2, SCO2
is asnp
is mentioned by
dbSNPrs74315512
ebirs74315512
HLIrs74315512
Exacrs74315512
Varsomers74315512
Maprs74315512
PheGenIrs74315512
hapmaprs74315512
1000 genomesrs74315512
hgdprs74315512
ensemblrs74315512
gopubmedrs74315512
geneviewrs74315512
scholarrs74315512
googlers74315512
pharmgkbrs74315512
gwascentralrs74315512
openSNPrs74315512
23andMers74315512
23andMe allrs74315512
SNP Nexus

SNPshotrs74315512
SNPdbers74315512
MSV3drs74315512
GWAS Ctlgrs74315512
Max Magnitude0
OMIM604272
Desc
Variant0005
Relatedalso
ClinVar
Risk rs74315512(T;T)
Alt rs74315512(T;T)
Reference rs74315512(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.50962573G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006036.2,