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: rs1009131948
rs1009131948
TTN ; TTN-AS1
1.000 0.120 2 178527548 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 0
dbSNP: rs1057518195
rs1057518195
TTN ; TTN-AS1
0.925 0.160 2 178535790 stop gained G/A snv 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 4 2008 2015
dbSNP: rs1057518195
rs1057518195
TTN ; TTN-AS1
0.925 0.160 2 178535790 stop gained G/A snv 4.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2008 2015
dbSNP: rs1057518851
rs1057518851
TTN ; TTN-AS1
2 178571565 stop gained C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1060500399
rs1060500399
TTN ; TTN-AS1
1.000 0.040 2 178557374 frameshift variant G/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500402
rs1060500402
TTN ; TTN-AS1
1.000 0.040 2 178549757 stop gained G/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500419
rs1060500419
TTN ; TTN-AS1
1.000 0.040 2 178618187 splice donor variant A/G snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500420
rs1060500420
TTN ; TTN-AS1
1.000 0.040 2 178590456 frameshift variant T/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500435
rs1060500435
TTN ; TTN-AS1
0.925 0.160 2 178546612 stop gained G/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2013 2017
dbSNP: rs1060500435
rs1060500435
TTN ; TTN-AS1
0.925 0.160 2 178546612 stop gained G/A snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2013 2017
dbSNP: rs1060500442
rs1060500442
TTN ; TTN-AS1
1.000 0.040 2 178591104 frameshift variant A/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500457
rs1060500457
TTN ; TTN-AS1
1.000 0.040 2 178553039 stop gained C/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500471
rs1060500471
TTN ; TTN-AS1
1.000 0.120 2 178534554 stop gained G/A snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 0
dbSNP: rs1060500479
rs1060500479
TTN ; TTN-AS1
1.000 0.040 2 178581558 frameshift variant T/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500483
rs1060500483
TTN ; TTN-AS1
0.925 0.160 2 178581497 splice donor variant A/T snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 1 2015 2015
dbSNP: rs1060500483
rs1060500483
TTN ; TTN-AS1
0.925 0.160 2 178581497 splice donor variant A/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 1 2015 2015
dbSNP: rs1060500489
rs1060500489
TTN ; TTN-AS1
1.000 0.040 2 178617508 splice acceptor variant CT/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500495
rs1060500495
TTN ; TTN-AS1
1.000 0.040 2 178552140 stop gained C/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500500
rs1060500500
TTN ; TTN-AS1
0.925 0.160 2 178611092 stop gained C/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 1 2015 2015
dbSNP: rs1060500500
rs1060500500
TTN ; TTN-AS1
0.925 0.160 2 178611092 stop gained C/A snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 1 2015 2015
dbSNP: rs1060500503
rs1060500503
TTN ; TTN-AS1
0.925 0.160 2 178609774 stop gained C/A;T snv 8.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2013 2015
dbSNP: rs1060500503
rs1060500503
TTN ; TTN-AS1
0.925 0.160 2 178609774 stop gained C/A;T snv 8.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2013 2015
dbSNP: rs1060500505
rs1060500505
TTN ; TTN-AS1
1.000 0.120 2 178533241 stop gained G/T snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 0
dbSNP: rs1060500513
rs1060500513
TTN ; TTN-AS1
0.925 0.160 2 178612450 frameshift variant CT/- delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 1 2015 2015
dbSNP: rs1060500513
rs1060500513
TTN ; TTN-AS1
0.925 0.160 2 178612450 frameshift variant CT/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 1 2015 2015