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: rs140743001
rs140743001
TTN ; TTN-AS1
1.000 0.040 2 178630250 stop gained G/A snv 8.1E-06 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2012 2014
dbSNP: rs140743001
rs140743001
TTN ; TTN-AS1
1.000 0.040 2 178630250 stop gained G/A snv 8.1E-06 1.4E-05
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0