rs199476315, TPM1

N. diseases: 5
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 0.827 0.080 15 63061723 missense variant G/A snv 0.700 1.000 17 2003 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.827 0.080 15 63061723 missense variant G/A snv 0.700 1.000 10 2003 2016
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.827 0.080 15 63061723 missense variant G/A snv 0.700 1.000 9 2003 2016
Cardiomyopathy, Dilated, 1y
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
6 0.827 0.080 15 63061723 missense variant G/A snv 0.700 1.000 1 2011 2011
LEFT VENTRICULAR NONCOMPACTION 9
CUI: C3808145
Disease: LEFT VENTRICULAR NONCOMPACTION 9
4 0.827 0.080 15 63061723 missense variant G/A snv 0.700 0