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: rs766265889
rs766265889
TTN ; TTN-AS1
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 4 2008 2015
dbSNP: rs766265889
rs766265889
TTN ; TTN-AS1
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 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: 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: rs869320740
rs869320740
TTN ; TTN-AS1
0.851 0.200 2 178546102 missense variant A/G snv 4.1E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 4 2014 2015
dbSNP: rs869320740
rs869320740
TTN ; TTN-AS1
0.851 0.200 2 178546102 missense variant A/G snv 4.1E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2014 2015
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: rs995029896
rs995029896
TTN ; TTN-AS1
0.925 0.160 2 178532670 stop gained G/A;C snv 4.0E-06; 2.0E-05
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 4 2008 2015
dbSNP: rs995029896
rs995029896
TTN ; TTN-AS1
0.925 0.160 2 178532670 stop gained G/A;C snv 4.0E-06; 2.0E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		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: 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
dbSNP: rs1553491220
rs1553491220
TTN ; TTN-AS1
0.925 0.160 2 178533097 frameshift variant A/- del
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs1553491793
rs1553491793
TTN ; TTN-AS1
0.925 0.160 2 178533279 frameshift variant T/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2008 2014
dbSNP: rs1553491793
rs1553491793
TTN ; TTN-AS1
0.925 0.160 2 178533279 frameshift variant T/- del
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs1559003939
rs1559003939
TTN ; TTN-AS1
0.925 0.160 2 178531844 stop gained G/T snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs1559003939
rs1559003939
TTN ; TTN-AS1
0.925 0.160 2 178531844 stop gained G/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2008 2014
dbSNP: rs1559031280
rs1559031280
TTN ; TTN-AS1
0.925 0.160 2 178533896 frameshift variant GT/- del
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs1559031280
rs1559031280
TTN ; TTN-AS1
0.925 0.160 2 178533896 frameshift variant GT/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2008 2014
dbSNP: rs1559050685
rs1559050685
TTN ; TTN-AS1
0.925 0.160 2 178535671 frameshift variant TCT/A delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2008 2014
dbSNP: rs1559050685
rs1559050685
TTN ; TTN-AS1
0.925 0.160 2 178535671 frameshift variant TCT/A delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs1559175090
rs1559175090
TTN ; TTN-AS1
0.925 0.160 2 178548967 frameshift variant AGATCAGT/- delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2013 2017