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: rs72648250
rs72648250
TTN ; TTN-AS1
0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 4 2012 2017
dbSNP: rs72648250
rs72648250
TTN ; TTN-AS1
0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2012 2017
dbSNP: rs72648250
rs72648250
TTN ; TTN-AS1
0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs72648250
rs72648250
TTN ; TTN-AS1
0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0