Source: CURATED

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: rs281864933
rs281864933
TTN ; TTN-AS1
1.000 0.120 2 178527091 inframe deletion CCATCT/- del
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.700 0
dbSNP: rs281864929
rs281864929
TTN ; TTN-AS1
1.000 0.120 2 178527098 stop gained G/A snv 4.0E-06
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.700 0
dbSNP: rs281864930
rs281864930
TTN ; TTN-AS1
0.925 0.120 2 178527099 frameshift variant T/- delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 1 2016 2016
dbSNP: rs281864930
rs281864930
TTN ; TTN-AS1
0.925 0.120 2 178527099 frameshift variant T/- delins
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.700 0
dbSNP: rs267607156
rs267607156
TTN ; TTN-AS1
1.000 0.120 2 178527121 missense variant A/G snv
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.800 1.000 2 2002 2003
dbSNP: rs281864928
rs281864928
TTN ; TTN-AS1
1.000 0.120 2 178527148 missense variant A/C;G;T snv 4.0E-06; 4.0E-06
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.800 1.000 2 2002 2003
dbSNP: rs281864931
rs281864931
TTN ; TTN-AS1
0.882 0.200 2 178527151 missense variant T/G snv
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.710 1.000 0 2010 2010
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: rs281864927
rs281864927
TTN ; TTN-AS1
0.882 0.160 2 178527198 missense variant CCATGTTACTT/TTTTTCTTTCA mnv
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.700 0
dbSNP: rs281864932
rs281864932
TTN ; TTN-AS1
1.000 0.120 2 178527479 frameshift variant A/- del
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05
CUI: C3277184
Disease: Decreased patellar reflex
Decreased patellar reflex 		0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05
CUI: C0231712
Disease: Waddling gait
Waddling gait 		0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		0.700 0
dbSNP: rs1009131948
rs1009131948
TTN ; TTN-AS1
1.000 0.120 2 178527548 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 0
dbSNP: rs886042246
rs886042246
TTN ; TTN-AS1
1.000 0.120 2 178527662 frameshift variant -/CTGA delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 0
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: rs112188483
rs112188483
TTN ; TTN-AS1
0.925 0.160 2 178528273 splice donor variant C/G;T snv 1.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1553479603
rs1553479603
TTN ; TTN-AS1
2 178528524 splice donor variant ACTGGCAGGTTGTTTTTAAACCATTCGATT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0