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: rs1559175090
rs1559175090
TTN ; TTN-AS1
0.925 0.160 2 178548967 frameshift variant AGATCAGT/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2013 2017
dbSNP: rs397517689
rs397517689
TTN ; TTN-AS1
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2012 2016
dbSNP: rs587780488
rs587780488
TTN ; TTN-AS1
0.925 0.160 2 178642237 missense variant C/G;T snv 1.5E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2012 2015
dbSNP: rs587780488
rs587780488
TTN ; TTN-AS1
0.925 0.160 2 178642237 missense variant C/G;T snv 1.5E-05
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2012 2015
dbSNP: rs727503602
rs727503602
TTN ; TTN-AS1
1.000 0.040 2 178604049 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2012 2015
dbSNP: rs727503607
rs727503607
TTN ; TTN-AS1
0.882 0.160 2 178605642 stop gained C/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2013 2015
dbSNP: rs727503607
rs727503607
TTN ; TTN-AS1
0.882 0.160 2 178605642 stop gained C/A snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2013 2015
dbSNP: rs727503607
rs727503607
TTN ; TTN-AS1
0.882 0.160 2 178605642 stop gained C/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2012 2014
dbSNP: rs727504531
rs727504531
TTN ; TTN-AS1
0.925 0.160 2 178573463 frameshift variant A/- del
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2012 2015
dbSNP: rs727504531
rs727504531
TTN ; TTN-AS1
0.925 0.160 2 178573463 frameshift variant A/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2012 2015
dbSNP: rs794729279
rs794729279
TTN ; TTN-AS1
0.925 0.160 2 178587684 stop gained G/A snv 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2013 2017
dbSNP: rs794729279
rs794729279
TTN ; TTN-AS1
0.925 0.160 2 178587684 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 3 2013 2017
dbSNP: rs869025545
rs869025545
TTN ; TTN-AS1
0.925 0.160 2 178566448 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 2015
dbSNP: rs869025545
rs869025545
TTN ; TTN-AS1
0.925 0.160 2 178566448 stop gained G/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2013 2015
dbSNP: rs869312070
rs869312070
TTN ; TTN-AS1
0.925 0.160 2 178613938 splice acceptor variant C/T snv 4.1E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2013 2015
dbSNP: rs869312070
rs869312070
TTN ; TTN-AS1
0.925 0.160 2 178613938 splice acceptor variant C/T snv 4.1E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2013 2015
dbSNP: rs886044460
rs886044460
TTN ; TTN-AS1
0.925 0.160 2 178530477 frameshift variant -/A delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs886044460
rs886044460
TTN ; TTN-AS1
0.925 0.160 2 178530477 frameshift variant -/A delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2008 2014
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: rs1060500589
rs1060500589
TTN ; TTN-AS1
0.925 0.160 2 178533817 frameshift variant ATT/TATA delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2013 2014
dbSNP: rs1060500589
rs1060500589
TTN ; TTN-AS1
0.925 0.160 2 178533817 frameshift variant ATT/TATA delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2013 2014
dbSNP: rs1064792916
rs1064792916
TTN ; TTN-AS1
0.925 0.160 2 178559829 frameshift variant GCCTTGACAATCAA/T delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2013 2015
dbSNP: rs1064792916
rs1064792916
TTN ; TTN-AS1
0.925 0.160 2 178559829 frameshift variant GCCTTGACAATCAA/T delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2013 2015
dbSNP: rs1064794266
rs1064794266
TTN ; TTN-AS1
0.925 0.160 2 178607400 splice donor variant C/A;T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2013 2015