rs199476321, TPM1

N. diseases: 3
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, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.882 0.080 15 63064133 missense variant T/C snv 4.0E-06 1.4E-05 0.700 1.000 8 2003 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.882 0.080 15 63064133 missense variant T/C snv 4.0E-06 1.4E-05 0.020 1.000 2 2019 2019
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.882 0.080 15 63064133 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019