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rs28937598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28937598(C;T)
Make rs28937598(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50523901
GeneNCAPH2, SCO2
is asnp
is mentioned by
dbSNPrs28937598
ebirs28937598
HLIrs28937598
Exacrs28937598
Varsomers28937598
Maprs28937598
PheGenIrs28937598
hapmaprs28937598
1000 genomesrs28937598
hgdprs28937598
ensemblrs28937598
gopubmedrs28937598
geneviewrs28937598
scholarrs28937598
googlers28937598
pharmgkbrs28937598
gwascentralrs28937598
openSNPrs28937598
23andMers28937598
23andMe allrs28937598
SNP Nexus

SNPshotrs28937598
SNPdbers28937598
MSV3drs28937598
GWAS Ctlgrs28937598
Max Magnitude0
OMIM604272
DescCARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
Variant0004
Relatedalso
Neighborrs28937868
Distance113


ClinVar
Risk rs28937598(T;T)
Alt rs28937598(T;T)
Reference rs28937598(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.50962330G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006034.2,