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: rs267607155
rs267607155
TTN
0.925 0.040 2 178782980 missense variant A/G;T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g
0.800 1.000 0 2002 2005
dbSNP: rs267607155
rs267607155
TTN
0.925 0.040 2 178782980 missense variant A/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 5 1999 2017