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rs28939711

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28939711(C;T)
Make rs28939711(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position99724057
GeneCOX15
is asnp
is mentioned by
dbSNPrs28939711
ebirs28939711
HLIrs28939711
Exacrs28939711
Varsomers28939711
Maprs28939711
PheGenIrs28939711
hapmaprs28939711
1000 genomesrs28939711
hgdprs28939711
ensemblrs28939711
gopubmedrs28939711
geneviewrs28939711
scholarrs28939711
googlers28939711
pharmgkbrs28939711
gwascentralrs28939711
openSNPrs28939711
23andMers28939711
23andMe allrs28939711
SNP Nexus

SNPshotrs28939711
SNPdbers28939711
MSV3drs28939711
GWAS Ctlgrs28939711
Max Magnitude0
OMIM603646
DescCARDIOMYOPATHY, HYPERTROPHIC, EARLY-ONSET FATAL
Variant0001
Relatedalso
ClinVar
Risk rs28939711(T;T)
Alt rs28939711(T;T)
Reference rs28939711(C;C)
Significance Pathogenic
Disease Cardioencephalomyopathy Congenital myasthenic syndrome
Variation info
Gene COX15
CLNDBN Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Congenital myasthenic syndrome, acetazolamide-responsive
Reversed 1
HGVS NC_000010.10:g.101483814G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006551.2, RCV000033252.3,