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: rs28933405
rs28933405
TTN
0.882 0.080 2 178785999 missense variant C/A;T snv 2.0E-05
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		0.800 1.000 0 1999 2011
dbSNP: rs574660186
rs574660186
TTN ; TTN-AS1
0.807 0.200 2 178579702 stop gained G/A;C snv 1.6E-05 3.5E-05
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		0.700 1.000 1 2012 2012
dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
0.882 0.120 2 178577785 stop gained G/A snv
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		0.700 0
dbSNP: rs1553543413
rs1553543413
TTN ; TTN-AS1
0.807 0.200 2 178553783 frameshift variant -/T delins
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		0.700 0
dbSNP: rs794729340
rs794729340
TTN ; TTN-AS1
0.807 0.200 2 178570991 frameshift variant TCTT/- delins
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		0.700 0
dbSNP: rs869178171
rs869178171
TTN ; TTN-AS1
0.790 0.200 2 178563475 stop gained C/A snv
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		0.700 0
dbSNP: rs869312099
rs869312099
TTN ; TTN-AS1
0.807 0.200 2 178738361 splice acceptor variant C/T snv 4.1E-06 1.4E-05
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		0.700 0