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: 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: rs138060032
rs138060032
TTN
1.000 0.160 2 178799566 missense variant G/A snv 1.9E-04 2.9E-04
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.710 < 0.001 0 2010 2010
dbSNP: rs139517732
rs139517732
TTN
0.851 0.040 2 178802273 missense variant C/T snv 4.4E-05 1.4E-05
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 1.000 0 2002 2005
dbSNP: rs1554015228
rs1554015228
TTN
1.000 0.120 2 178781157 missense variant C/T snv
CUI: C2673677
Disease: Myopathy, Early-Onset, with Fatal Cardiomyopathy
Myopathy, Early-Onset, with Fatal Cardiomyopathy 		0.700 0
dbSNP: rs1561445221
rs1561445221
TTN
2 178792176 frameshift variant T/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs267607155
rs267607155
TTN
0.925 0.040 2 178782980 missense variant A/G;T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 1.000 0 2002 2005
dbSNP: rs267607157
rs267607157
TTN
1.000 0.040 2 178785990 missense variant G/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 1.000 0 2002 2005
dbSNP: rs28933405
rs28933405
TTN
0.882 0.080 2 178785999 missense variant C/A;T snv 2.0E-05
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		0.800 1.000 0 1999 2011
dbSNP: rs397517497
rs397517497
TTN
1.000 0.120 2 178790707 splice donor variant C/T snv 4.8E-05 5.6E-05
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0
dbSNP: rs397517497
rs397517497
TTN
1.000 0.120 2 178790707 splice donor variant C/T snv 4.8E-05 5.6E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397517547
rs397517547
TTN
1.000 0.120 2 178782872 stop gained G/A snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397517547
rs397517547
TTN
1.000 0.120 2 178782872 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 0
dbSNP: rs747286444
rs747286444
TTN
1.000 0.040 2 178790737 stop gained G/A;C snv 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
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: 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