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: rs753334568
rs753334568
TTN ; TTN-AS1
0.882 0.200 2 178546041 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 5 2012 2015
dbSNP: rs753334568
rs753334568
TTN ; TTN-AS1
0.882 0.200 2 178546041 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 5 2012 2015
dbSNP: rs753334568
rs753334568
TTN ; TTN-AS1
0.882 0.200 2 178546041 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.700 1.000 3 2014 2014