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: 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
dbSNP: rs1559175090
rs1559175090
TTN ; TTN-AS1
0.925 0.160 2 178548967 frameshift variant AGATCAGT/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2013 2017
dbSNP: rs397517580
rs397517580
TTN ; TTN-AS1
2 178621517 stop gained G/A snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2012 2015
dbSNP: rs727503602
rs727503602
TTN ; TTN-AS1
1.000 0.040 2 178604049 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2012 2015
dbSNP: rs727503607
rs727503607
TTN ; TTN-AS1
0.882 0.160 2 178605642 stop gained C/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2013 2015
dbSNP: rs727503607
rs727503607
TTN ; TTN-AS1
0.882 0.160 2 178605642 stop gained C/A snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2013 2015
dbSNP: rs727503607
rs727503607
TTN ; TTN-AS1
0.882 0.160 2 178605642 stop gained C/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2012 2014
dbSNP: rs727504531
rs727504531
TTN ; TTN-AS1
0.925 0.160 2 178573463 frameshift variant A/- del
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2012 2015
dbSNP: rs727504531
rs727504531
TTN ; TTN-AS1
0.925 0.160 2 178573463 frameshift variant A/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2012 2015
dbSNP: rs794729305
rs794729305
TTN ; TTN-AS1
0.925 0.160 2 178535388 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 3 2008 2014
dbSNP: rs794729305
rs794729305
TTN ; TTN-AS1
0.925 0.160 2 178535388 stop gained G/A snv 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2008 2014
dbSNP: rs869025545
rs869025545
TTN ; TTN-AS1
0.925 0.160 2 178566448 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 2015
dbSNP: rs869025545
rs869025545
TTN ; TTN-AS1
0.925 0.160 2 178566448 stop gained G/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2013 2015
dbSNP: rs886044460
rs886044460
TTN ; TTN-AS1
0.925 0.160 2 178530477 frameshift variant -/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: rs886044460
rs886044460
TTN ; TTN-AS1
0.925 0.160 2 178530477 frameshift variant -/A delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2008 2014
dbSNP: rs1060500589
rs1060500589
TTN ; TTN-AS1
0.925 0.160 2 178533817 frameshift variant ATT/TATA delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2013 2014