TRIM63, tripartite motif containing 63, 84676

N. diseases: 73; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148395034
rs148395034
Entrez Id: 84676
Gene Symbol: TRIM63
TRIM63
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		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
Entrez Id: 84676
Gene Symbol: TRIM63
TRIM63
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		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
Entrez Id: 84676
Gene Symbol: TRIM63
TRIM63
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		A 0.720 GeneticVariation CLINVAR
dbSNP: rs2997447
rs2997447
Entrez Id: 84676
Gene Symbol: TRIM63
TRIM63
CUI: C0429097
Disease:
QRS complex feature 		0.700 GeneticVariation GWASCAT 52 Genetic Loci Influencing Myocardial Mass. 27659466 2016
dbSNP: rs148395034
rs148395034
Entrez Id: 84676
Gene Symbol: TRIM63
TRIM63
CUI: C4551472
Disease:
Hypertrophic obstructive cardiomyopathy 		0.010 GeneticVariation BEFREE The p.Q247X variant in TRIM63 is not likely to be a highly penetrant variant causing hypertrophic cardiomyopathy. 24436435 2014
dbSNP: rs140523053
rs140523053
Entrez Id: 84676
Gene Symbol: TRIM63
TRIM63
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 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: rs377334933
rs377334933
Entrez Id: 84676
Gene Symbol: TRIM63
TRIM63
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 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