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rs794729210

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794729210(C;C)
Make rs794729210(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position118559052
GeneCEP85L, PLN
is asnp
is mentioned by
dbSNPrs794729210
ebirs794729210
HLIrs794729210
Exacrs794729210
Varsomers794729210
Maprs794729210
PheGenIrs794729210
hapmaprs794729210
1000 genomesrs794729210
hgdprs794729210
ensemblrs794729210
gopubmedrs794729210
geneviewrs794729210
scholarrs794729210
googlers794729210
pharmgkbrs794729210
gwascentralrs794729210
openSNPrs794729210
23andMers794729210
23andMe allrs794729210
SNP Nexus

SNPshotrs794729210
SNPdbers794729210
MSV3drs794729210
GWAS Ctlgrs794729210
Max Magnitude0
ClinVar
Risk rs794729210(C;C)
Alt rs794729210(C;C)
Reference rs794729210(T;T)
Significance Probable-Pathogenic
Disease Familial hypertrophic cardiomyopathy 18
Variation info
Gene CEP85L PLN
CLNDBN Familial hypertrophic cardiomyopathy 18
Reversed 0
HGVS NC_000006.11:g.118880215T>C
CLNSRC
CLNACC RCV000184030.2,