rs199476301, 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 Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.020 1.000 2 2016 2017
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
Hypertrophic obstructive cardiomyopathy
90 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019