Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs45578238
rs45578238
TNNT2
0.882 0.080 1 201361971 inframe deletion CTT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 15 2000 2019
dbSNP: rs45578238
rs45578238
TNNT2
0.882 0.080 1 201361971 inframe deletion CTT/- delins
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.700 1.000 13 2000 2013
dbSNP: rs45578238
rs45578238
TNNT2
0.882 0.080 1 201361971 inframe deletion CTT/- delins
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.700 1.000 13 2000 2013
dbSNP: rs45578238
rs45578238
TNNT2
0.882 0.080 1 201361971 inframe deletion CTT/- delins
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 13 2000 2013