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: rs878854324
rs878854324
TTN ; TTN-AS1
0.925 0.160 2 178589804 stop gained G/A;T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 14 1991 2014
dbSNP: rs752697861
rs752697861
TTN ; TTN-AS1
0.925 0.160 2 178534092 stop gained G/A snv 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 7 2008 2017
dbSNP: rs752697861
rs752697861
TTN ; TTN-AS1
0.925 0.160 2 178534092 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 7 2008 2017
dbSNP: rs553526525
rs553526525
TTN ; TTN-AS1
0.925 0.160 2 178591977 splice donor variant C/T snv 4.1E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 6 2007 2018
dbSNP: rs553526525
rs553526525
TTN ; TTN-AS1
0.925 0.160 2 178591977 splice donor 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 6 2007 2018
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: rs758279518
rs758279518
TTN ; TTN-AS1
0.925 0.160 2 178579938 splice donor variant C/T snv 8.1E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 5 2007 2015
dbSNP: rs758279518
rs758279518
TTN ; TTN-AS1
0.925 0.160 2 178579938 splice donor variant C/T snv 8.1E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 5 2007 2015
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: 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: 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: rs397517689
rs397517689
TTN ; TTN-AS1
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 4 2013 2017
dbSNP: rs397517689
rs397517689
TTN ; TTN-AS1
0.882 0.160 2 178574530 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 2013 2017
dbSNP: rs72648250
rs72648250
TTN ; TTN-AS1
0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 4 2012 2017
dbSNP: rs72648250
rs72648250
TTN ; TTN-AS1
0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2012 2017