TRIM63, tripartite motif containing 63, 84676

N. diseases: 73; N. variants: 4
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs148395034
rs148395034 		0.925 0.040 1 26058482 stop gained G/A;C snv 7.0E-04; 5.6E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.720 0.500 2 2012 2014
dbSNP: rs2997447
rs2997447 		1 26060932 intron variant G/A snv 0.24
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		0.700 1.000 1 2016 2016
dbSNP: rs140523053
rs140523053 		1.000 0.040 1 26067352 missense variant G/A snv 1.4E-03 1.3E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs148395034
rs148395034 		0.925 0.040 1 26058482 stop gained G/A;C snv 7.0E-04; 5.6E-05
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs377334933
rs377334933 		1.000 0.040 1 26061277 missense variant G/C snv 4.8E-05 3.5E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2012 2012