rs104894502, TPM1

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
CUI: C1861863
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
7 0.807 0.120 15 63060915 missense variant A/G;T snv 0.800 1.000 10 1994 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.807 0.120 15 63060915 missense variant A/G;T snv 0.040 1.000 4 2000 2014
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.807 0.120 15 63060915 missense variant A/G;T snv 0.030 1.000 3 1994 2012
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.807 0.120 15 63060915 missense variant A/G;T snv 0.030 1.000 3 1994 2012
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.807 0.120 15 63060915 missense variant A/G;T snv 0.020 1.000 2 2000 2011
Neuromuscular inhibition
CUI: C0234119
Disease: Neuromuscular inhibition
2 0.807 0.120 15 63060915 missense variant A/G;T snv 0.010 1.000 1 2004 2004