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: rs112188483
rs112188483
TTN ; TTN-AS1
0.925 0.160 2 178528273 splice donor variant C/G;T snv 1.2E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2008 2015
dbSNP: rs112188483
rs112188483
TTN ; TTN-AS1
0.925 0.160 2 178528273 splice donor variant C/G;T snv 1.2E-05
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 4 2008 2015
dbSNP: rs112188483
rs112188483
TTN ; TTN-AS1
0.925 0.160 2 178528273 splice donor variant C/G;T snv 1.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0