rs397516349, TNNI3

N. diseases: 6
Source: CLINVAR ×
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
332 0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05 0.700 1.000 8 1997 2014
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
468 0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05 0.700 1.000 4 1988 2004
Cardiomyopathy, Dilated, 1FF
CUI: C2750091
Disease: Cardiomyopathy, Dilated, 1FF
5 0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05 0.700 0
CARDIOMYOPATHY, DILATED, 2A (disorder)
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
2 0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05 0.700 0
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
12 0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05 0.700 0
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
10 0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05 0.700 0