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rs74315511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315511(A;A)
Make rs74315511(A;G)
ReferenceGRCh38 38.1/142
Chromosome22
Position50523994
GeneNCAPH2, SCO2
is asnp
is mentioned by
dbSNPrs74315511
ebirs74315511
HLIrs74315511
Exacrs74315511
Varsomers74315511
Maprs74315511
PheGenIrs74315511
hapmaprs74315511
1000 genomesrs74315511
hgdprs74315511
ensemblrs74315511
gopubmedrs74315511
geneviewrs74315511
scholarrs74315511
googlers74315511
pharmgkbrs74315511
gwascentralrs74315511
openSNPrs74315511
23andMers74315511
23andMe allrs74315511
SNP Nexus

SNPshotrs74315511
SNPdbers74315511
MSV3drs74315511
GWAS Ctlgrs74315511
Max Magnitude0
OMIM604272
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315511(A;A)
Alt rs74315511(A;A)
Reference rs74315511(G;G)
Significance Pathogenic
Disease Cardioencephalomyopathy Myopia 6 not provided
Variation info
Gene SCO2 NCAPH2
CLNDBN Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Myopia 6 not provided
Reversed 1
HGVS NC_000022.10:g.50962423C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006035.3, RCV000043619.2, RCV000198477.1,