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: rs869312054
rs869312054
TTN ; TTN-AS1
2 178593566 splice donor variant A/G snv 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869312054
rs869312054
TTN ; TTN-AS1
2 178593566 splice donor variant A/G snv 1.4E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0