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: 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
dbSNP: rs1064794266
rs1064794266
TTN ; TTN-AS1
0.925 0.160 2 178607400 splice donor variant C/A;T snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2013 2015
dbSNP: rs1064794472
rs1064794472
TTN ; TTN-AS1
0.925 0.160 2 178553784 frameshift variant -/A ins 7.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2013 2015
dbSNP: rs1064794472
rs1064794472
TTN ; TTN-AS1
0.925 0.160 2 178553784 frameshift variant -/A ins 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2013 2015
dbSNP: rs1064796112
rs1064796112
TTN ; TTN-AS1
0.925 0.160 2 178578632 frameshift variant 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: rs1064796112
rs1064796112
TTN ; TTN-AS1
0.925 0.160 2 178578632 frameshift variant T/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2013 2015
dbSNP: rs1064796230
rs1064796230
TTN ; TTN-AS1
0.925 0.160 2 178601536 frameshift variant TT/- delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2015 2017
dbSNP: rs1064796230
rs1064796230
TTN ; TTN-AS1
0.925 0.160 2 178601536 frameshift variant TT/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2015 2017
dbSNP: rs1343120755
rs1343120755
TTN ; TTN-AS1
0.925 0.160 2 178609301 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 2 2013 2015
dbSNP: rs1343120755
rs1343120755
TTN ; TTN-AS1
0.925 0.160 2 178609301 stop gained G/A snv 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2013 2015
dbSNP: rs1389777522
rs1389777522
TTN ; TTN-AS1
0.925 0.160 2 178607429 frameshift variant T/- delins 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2015 2015
dbSNP: rs1389777522
rs1389777522
TTN ; TTN-AS1
0.925 0.160 2 178607429 frameshift variant T/- delins 7.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2015 2015
dbSNP: rs1445687820
rs1445687820
TTN ; TTN-AS1
0.925 0.160 2 178538766 frameshift variant 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: rs1445687820
rs1445687820
TTN ; TTN-AS1
0.925 0.160 2 178538766 frameshift variant T/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2013 2015
dbSNP: rs1477101279
rs1477101279
TTN ; TTN-AS1
0.925 0.160 2 178599748 stop gained C/A;T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2013 2015
dbSNP: rs1477101279
rs1477101279
TTN ; TTN-AS1
0.925 0.160 2 178599748 stop gained C/A;T snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2013 2015
dbSNP: rs1483931960
rs1483931960
TTN ; TTN-AS1
0.925 0.160 2 178601337 stop gained G/A snv 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2013 2015
dbSNP: rs1483931960
rs1483931960
TTN ; TTN-AS1
0.925 0.160 2 178601337 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 2 2013 2015
dbSNP: rs1553547657
rs1553547657
TTN ; TTN-AS1
0.925 0.160 2 178555037 stop gained C/T snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2015 2015
dbSNP: rs1553547657
rs1553547657
TTN ; TTN-AS1
0.925 0.160 2 178555037 stop gained C/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2015 2015
dbSNP: rs1553602546
rs1553602546
TTN ; TTN-AS1
0.925 0.160 2 178570158 stop gained C/T snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2013 2015
dbSNP: rs1553602546
rs1553602546
TTN ; TTN-AS1
0.925 0.160 2 178570158 stop gained C/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2013 2015