rs727503504, TNNI3

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, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.807 0.080 19 55154071 missense variant G/A;C snv 0.700 1.000 4 2009 2015
Restrictive cardiomyopathy
CUI: C0007196
Disease: Restrictive cardiomyopathy
30 0.807 0.080 19 55154071 missense variant G/A;C snv 0.700 1.000 1 2009 2009
Cardiomyopathy, Dilated, 1FF
CUI: C2750091
Disease: Cardiomyopathy, Dilated, 1FF
6 0.807 0.080 19 55154071 missense variant G/A;C snv 0.700 0
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
15 0.807 0.080 19 55154071 missense variant G/A;C snv 0.700 0
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
24 0.807 0.080 19 55154071 missense variant G/A;C snv 0.700 0
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.807 0.080 19 55154071 missense variant G/A;C snv 0.700 0