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rs74315510

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315510(C;T)
Make rs74315510(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50524255
GeneNCAPH2, SCO2
is asnp
is mentioned by
dbSNPrs74315510
ebirs74315510
HLIrs74315510
Exacrs74315510
Varsomers74315510
Maprs74315510
PheGenIrs74315510
hapmaprs74315510
1000 genomesrs74315510
hgdprs74315510
ensemblrs74315510
gopubmedrs74315510
geneviewrs74315510
scholarrs74315510
googlers74315510
pharmgkbrs74315510
gwascentralrs74315510
openSNPrs74315510
23andMers74315510
23andMe allrs74315510
SNP Nexus

SNPshotrs74315510
SNPdbers74315510
MSV3drs74315510
GWAS Ctlgrs74315510
Max Magnitude0
OMIM604272
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315510(T;T)
Alt rs74315510(T;T)
Reference rs74315510(C;C)
Significance Pathogenic
Disease Cardioencephalomyopathy Myopia 6
Variation info
Gene SCO2 NCAPH2
CLNDBN Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Myopia 6
Reversed 1
HGVS NC_000022.10:g.50962684G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006032.3, RCV000043618.2,