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rs28937868

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28937868(A;A)
Make rs28937868(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50524014
GeneNCAPH2, SCO2
is asnp
is mentioned by
dbSNPrs28937868
ebirs28937868
HLIrs28937868
Exacrs28937868
Varsomers28937868
Maprs28937868
PheGenIrs28937868
hapmaprs28937868
1000 genomesrs28937868
hgdprs28937868
ensemblrs28937868
gopubmedrs28937868
geneviewrs28937868
scholarrs28937868
googlers28937868
pharmgkbrs28937868
gwascentralrs28937868
openSNPrs28937868
23andMers28937868
23andMe allrs28937868
SNP Nexus

SNPshotrs28937868
SNPdbers28937868
MSV3drs28937868
GWAS Ctlgrs28937868
Max Magnitude0
OMIM604272
DescCARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
Variant0007
Relatedalso
Neighborrs28937598
Distance113


ClinVar
Risk rs28937868(A;A)
Alt rs28937868(A;A)
Reference rs28937868(G;G)
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.50962443C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006038.2,