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rs140523

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140523(C;C)
Make rs140523(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50524353
GeneNCAPH2, SCO2
is asnp
is mentioned by
dbSNPrs140523
dbSNP (old)rs140523
ClinGenrs140523
ebirs140523
HLIrs140523
Exacrs140523
Gnomadrs140523
Varsomers140523
LitVarrs140523
Maprs140523
PheGenIrs140523
Biobankrs140523
1000 genomesrs140523
hgdprs140523
ensemblrs140523
gopubmedrs140523
geneviewrs140523
scholarrs140523
googlers140523
pharmgkbrs140523
gwascentralrs140523
openSNPrs140523
23andMers140523
23andMe allrs140523
SNPshotrs140523
SNPdbers140523
MSV3drs140523
GWAS Ctlgrs140523
GMAF0.36
Max Magnitude0
? (C;C) (C;G) (G;G) 28




ClinVar
Risk rs140523(A;A) rs140523(C;C) rs140523(T;T)
Alt rs140523(A;A) rs140523(C;C) rs140523(T;T)
Reference Rs140523(G;G)
Significance Non-pathogenic
Disease not specified Mitochondrial DNA depletion syndrome 1 (MNGIE type) Cytochrome-c oxidase deficiency Fatal Infantile Cardioencephalomyopathy
Variation info
Gene SCO2 NCAPH2
CLNDBN not specified Mitochondrial DNA depletion syndrome 1 (MNGIE type) Cytochrome-c oxidase deficiency Fatal Infantile Cardioencephalomyopathy
Reversed 1
HGVS NC_000022.10:g.50962782C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000128012.1, RCV000271220.1, RCV000338357.1, RCV000374348.1,