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: 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: rs1057518851
rs1057518851
TTN ; TTN-AS1
2 178571565 stop gained C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1060500399
rs1060500399
TTN ; TTN-AS1
1.000 0.040 2 178557374 frameshift variant G/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500402
rs1060500402
TTN ; TTN-AS1
1.000 0.040 2 178549757 stop gained G/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500419
rs1060500419
TTN ; TTN-AS1
1.000 0.040 2 178618187 splice donor variant A/G snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500420
rs1060500420
TTN ; TTN-AS1
1.000 0.040 2 178590456 frameshift variant T/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500442
rs1060500442
TTN ; TTN-AS1
1.000 0.040 2 178591104 frameshift variant A/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500457
rs1060500457
TTN ; TTN-AS1
1.000 0.040 2 178553039 stop gained C/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500471
rs1060500471
TTN ; TTN-AS1
1.000 0.120 2 178534554 stop gained G/A snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 0
dbSNP: rs1060500479
rs1060500479
TTN ; TTN-AS1
1.000 0.040 2 178581558 frameshift variant T/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500489
rs1060500489
TTN ; TTN-AS1
1.000 0.040 2 178617508 splice acceptor variant CT/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500495
rs1060500495
TTN ; TTN-AS1
1.000 0.040 2 178552140 stop gained C/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1060500505
rs1060500505
TTN ; TTN-AS1
1.000 0.120 2 178533241 stop gained G/T snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 0
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: 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: 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: 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: 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: 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: 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: rs1064795407
rs1064795407
TTN ; TTN-AS1
1.000 0.040 2 178563537 frameshift variant -/T delins 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs1114167323
rs1114167323
TTN ; TTN-AS1
1.000 0.040 2 178584515 frameshift variant GC/- del
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 0