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rs875989827

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs875989827(C;C)
Make rs875989827(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position234374303
GeneCOA6, LOC101927765
is asnp
is mentioned by
dbSNPrs875989827
ebirs875989827
HLIrs875989827
Exacrs875989827
Varsomers875989827
Maprs875989827
PheGenIrs875989827
hapmaprs875989827
1000 genomesrs875989827
hgdprs875989827
ensemblrs875989827
gopubmedrs875989827
geneviewrs875989827
scholarrs875989827
googlers875989827
pharmgkbrs875989827
gwascentralrs875989827
openSNPrs875989827
23andMers875989827
23andMe allrs875989827
SNP Nexus

SNPshotrs875989827
SNPdbers875989827
MSV3drs875989827
GWAS Ctlgrs875989827
Max Magnitude0
ClinVar
Risk rs875989827(C;C)
Alt rs875989827(C;C)
Reference rs875989827(T;T)
Significance Pathogenic
Disease Cardioencephalomyopathy
Variation info
Gene COA6 LOC101927765
CLNDBN Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
Reversed 0
HGVS NC_000001.10:g.234510049T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000186606.2,