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rs121908508

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908508(A;A)
Make rs121908508(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50524305
GeneNCAPH2, SCO2
is asnp
is mentioned by
dbSNPrs121908508
ebirs121908508
HLIrs121908508
Exacrs121908508
Varsomers121908508
Maprs121908508
PheGenIrs121908508
hapmaprs121908508
1000 genomesrs121908508
hgdprs121908508
ensemblrs121908508
gopubmedrs121908508
geneviewrs121908508
scholarrs121908508
googlers121908508
pharmgkbrs121908508
gwascentralrs121908508
openSNPrs121908508
23andMers121908508
23andMe allrs121908508
SNP Nexus

SNPshotrs121908508
SNPdbers121908508
MSV3drs121908508
GWAS Ctlgrs121908508
Max Magnitude0
OMIM604272
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908508(A;A)
Alt rs121908508(A;A)
Reference rs121908508(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.50962734C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006039.2,