Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148395034
rs148395034
TRIM63
0.720 GeneticVariation BEFREE The p.Q247X variant in TRIM63 is not likely to be a highly penetrant variant causing hypertrophic cardiomyopathy. 24436435

2014
dbSNP: rs148395034
rs148395034
TRIM63
0.720 GeneticVariation BEFREE Sequencing of TRIM63 gene in 302 HCM probands (250 white individuals) and 339 control subjects (262 white individuals) led to identification of 2 missense (p.A48V and p.I130M) and a deletion (p.Q247*) variants exclusively in the HCM probands. 22821932

2012
dbSNP: rs148395034
rs148395034
TRIM63
A 0.720 GeneticVariation CLINVAR