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: 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: 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: rs797044692
rs797044692
TTN ; TTN-AS1
0.925 0.160 2 178591043 frameshift variant -/A delins 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: rs797044692
rs797044692
TTN ; TTN-AS1
0.925 0.160 2 178591043 frameshift variant -/A delins 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 2 2013 2015
dbSNP: rs1553539686
rs1553539686
TTN ; TTN-AS1
0.925 0.160 2 178552305 frameshift variant -/A delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 1 2015 2015
dbSNP: rs1553539686
rs1553539686
TTN ; TTN-AS1
0.925 0.160 2 178552305 frameshift variant -/A delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 1 2015 2015
dbSNP: rs1553553671
rs1553553671
TTN ; TTN-AS1
0.925 0.160 2 178557528 frameshift variant -/A delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 1 2015 2015
dbSNP: rs1553553671
rs1553553671
TTN ; TTN-AS1
0.925 0.160 2 178557528 frameshift variant -/A delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 1 2015 2015
dbSNP: rs1559284676
rs1559284676
TTN ; TTN-AS1
0.925 0.160 2 178560128 frameshift variant -/A delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 1 2015 2015
dbSNP: rs1559284676
rs1559284676
TTN ; TTN-AS1
0.925 0.160 2 178560128 frameshift variant -/A delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 1 2015 2015
dbSNP: rs397517750
rs397517750
TTN ; TTN-AS1
2 178552121 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs1064793845
rs1064793845
TTN ; TTN-AS1
1.000 0.040 2 178578006 frameshift variant -/A delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1553614378
rs1553614378
TTN ; TTN-AS1
1.000 0.040 2 178575916 frameshift variant -/A delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1559448864
rs1559448864
TTN ; TTN-AS1
2 178575386 frameshift variant -/A delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559469421
rs1559469421
TTN ; TTN-AS1
2 178577230 frameshift variant -/A delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs752856716
rs752856716
TTN ; TTN-AS1
2 178632349 frameshift variant -/A delins 1.3E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs755261062
rs755261062
TTN ; TTN-AS1
2 178592593 frameshift variant -/A delins 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869025552
rs869025552
TTN ; TTN-AS1
2 178602411 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869025557
rs869025557
TTN ; TTN-AS1
2 178576604 frameshift variant -/A delins 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869312082
rs869312082
TTN ; TTN-AS1
2 178552577 frameshift variant -/A ins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869312122
rs869312122
TTN ; TTN-AS1
1.000 0.120 2 178535516 frameshift variant -/A ins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869312122
rs869312122
TTN ; TTN-AS1
1.000 0.120 2 178535516 frameshift variant -/A ins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 0
dbSNP: rs876657673
rs876657673
TTN ; TTN-AS1
2 178739618 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0