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: rs371678190
rs371678190
TTN ; TTN-AS1
1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs371678190
rs371678190
TTN ; TTN-AS1
1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs371678190
rs371678190
TTN ; TTN-AS1
1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0