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: rs397517626
rs397517626
TTN ; TTN-AS1
1.000 0.040 2 178598977 frameshift variant -/T delins 4.1E-06 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397517626
rs397517626
TTN ; TTN-AS1
1.000 0.040 2 178598977 frameshift variant -/T delins 4.1E-06 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0