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: rs1060500514
rs1060500514
TTN ; TTN-AS1
1.000 0.040 2 178574890 frameshift variant A/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500525
rs1060500525
TTN ; TTN-AS1
1.000 0.040 2 178559797 stop gained G/A snv 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500526
rs1060500526
TTN ; TTN-AS1
0.925 0.160 2 178598918 stop gained C/T snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 1 2015 2015
dbSNP: rs1060500526
rs1060500526
TTN ; TTN-AS1
0.925 0.160 2 178598918 stop gained C/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 1 2015 2015
dbSNP: rs1060500544
rs1060500544
TTN ; TTN-AS1
1.000 0.040 2 178544456 frameshift variant GT/- delins 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500556
rs1060500556
TTN ; TTN-AS1
0.925 0.160 2 178561650 frameshift variant G/- delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 1 2015 2015
dbSNP: rs1060500556
rs1060500556
TTN ; TTN-AS1
0.925 0.160 2 178561650 frameshift variant G/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 1 2015 2015
dbSNP: rs1060500572
rs1060500572
TTN ; TTN-AS1
1.000 0.040 2 178563084 frameshift variant T/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500575
rs1060500575
TTN ; TTN-AS1
1.000 0.040 2 178576081 stop gained G/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500586
rs1060500586
TTN ; TTN-AS1
0.925 0.160 2 178557795 stop gained C/A;T snv 4.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 1 2015 2015
dbSNP: rs1060500586
rs1060500586
TTN ; TTN-AS1
0.925 0.160 2 178557795 stop gained C/A;T snv 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 1 2015 2015
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
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: rs1060500593
rs1060500593
TTN ; TTN-AS1
1.000 0.040 2 178565028 frameshift variant -/ATTT delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060503941
rs1060503941
TTN ; TTN-AS1
0.925 0.160 2 178563782 stop gained A/C;G;T snv 4.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 1 2015 2015
dbSNP: rs1060503941
rs1060503941
TTN ; TTN-AS1
0.925 0.160 2 178563782 stop gained A/C;G;T snv 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 1 2015 2015
dbSNP: rs1064792914
rs1064792914
TTN ; TTN-AS1
1.000 0.040 2 178592434 stop gained -/AAAGAATAAATTCCACCATCTTCATGGGCAGCATTACGAA delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1064792915
rs1064792915
TTN ; TTN-AS1
1.000 0.040 2 178608280 frameshift variant AAGCCATCTACATTGGCTTTCAAGGCAT/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
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: rs1064793419
rs1064793419
TTN ; TTN-AS1
1.000 0.040 2 178542739 frameshift variant -/T delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1064793560
rs1064793560
TTN ; TTN-AS1
0.925 0.160 2 178536160 stop gained C/T snv 1.4E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 1 2015 2015
dbSNP: rs1064793560
rs1064793560
TTN ; TTN-AS1
0.925 0.160 2 178536160 stop gained C/T snv 1.4E-05
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 1 2015 2015
dbSNP: rs1064793814
rs1064793814
TTN ; TTN-AS1
2 178559769 stop gained C/T snv
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