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: rs1553485330
rs1553485330
TTN ; TTN-AS1
2 178531129 frameshift variant C/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 1991 2014
dbSNP: rs1553650442
rs1553650442
TTN ; TTN-AS1
0.925 0.160 2 178593732 frameshift variant C/-;CCC delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 1991 2014
dbSNP: rs1553705079
rs1553705079
TTN ; TTN-AS1
0.925 0.160 2 178615486 splice acceptor variant T/G snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 5 2007 2015
dbSNP: rs1553705079
rs1553705079
TTN ; TTN-AS1
0.925 0.160 2 178615486 splice acceptor variant T/G snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 5 2007 2015
dbSNP: rs267607155
rs267607155
TTN
0.925 0.040 2 178782980 missense variant A/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 5 1999 2017
dbSNP: rs281864927
rs281864927
TTN ; TTN-AS1
0.882 0.160 2 178527198 missense variant CCATGTTACTT/TTTTTCTTTCA mnv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 5 2002 2015
dbSNP: rs281864927
rs281864927
TTN ; TTN-AS1
0.882 0.160 2 178527198 missense variant CCATGTTACTT/TTTTTCTTTCA mnv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 5 2002 2015
dbSNP: rs727504452
rs727504452
TTN ; TTN-AS1
2 178702186 frameshift variant CTGCCGTGCT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 5 2002 2012
dbSNP: rs753798236
rs753798236
TTN ; TTN-AS1
0.925 0.160 2 178608479 splice acceptor variant T/G snv 2.1E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 5 2007 2015
dbSNP: rs753798236
rs753798236
TTN ; TTN-AS1
0.925 0.160 2 178608479 splice acceptor variant T/G snv 2.1E-05
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 5 2007 2015
dbSNP: rs1553712292
rs1553712292
TTN ; TTN-AS1
0.925 0.160 2 178618706 frameshift variant -/T delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 4 2012 2015
dbSNP: rs1553712292
rs1553712292
TTN ; TTN-AS1
0.925 0.160 2 178618706 frameshift variant -/T delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2012 2015
dbSNP: rs794729265
rs794729265
TTN ; TTN-AS1
0.925 0.160 2 178612355 stop gained G/A snv 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 4 2013 2017
dbSNP: rs794729265
rs794729265
TTN ; TTN-AS1
0.925 0.160 2 178612355 stop gained G/A snv 7.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2013 2017
dbSNP: rs869312112
rs869312112
TTN ; TTN-AS1
0.925 0.160 2 178590230 stop gained G/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 4 2012 2017
dbSNP: rs869312112
rs869312112
TTN ; TTN-AS1
0.925 0.160 2 178590230 stop gained G/A snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2012 2017
dbSNP: rs876658102
rs876658102
TTN ; TTN-AS1
0.925 0.160 2 178528527 splice donor variant C/T snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2008 2015
dbSNP: rs876658102
rs876658102
TTN ; TTN-AS1
0.925 0.160 2 178528527 splice donor variant C/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 4 2008 2015
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: rs1260821931
rs1260821931
TTN ; TTN-AS1
0.925 0.160 2 178535729 stop gained C/T snv 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2008 2014
dbSNP: rs1260821931
rs1260821931
TTN ; TTN-AS1
0.925 0.160 2 178535729 stop gained C/T snv 7.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs1553488049
rs1553488049
TTN ; TTN-AS1
0.925 0.160 2 178532100 stop gained G/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2008 2014
dbSNP: rs1553488049
rs1553488049
TTN ; TTN-AS1
0.925 0.160 2 178532100 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 2008 2014
dbSNP: rs1553491220
rs1553491220
TTN ; TTN-AS1
0.925 0.160 2 178533097 frameshift variant A/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2008 2014