TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 112; N. variants: 626
Disease: Cardiomyopathy, Dilated, 1g ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060500399
rs1060500399 		1.000 0.040 2 178557374 frameshift variant G/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060500402
rs1060500402 		1.000 0.040 2 178549757 stop gained G/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060500419
rs1060500419 		1.000 0.040 2 178618187 splice donor variant A/G snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060500420
rs1060500420 		1.000 0.040 2 178590456 frameshift variant T/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060500442
rs1060500442 		1.000 0.040 2 178591104 frameshift variant A/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060500457
rs1060500457 		1.000 0.040 2 178553039 stop gained C/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060500479
rs1060500479 		1.000 0.040 2 178581558 frameshift variant T/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060500489
rs1060500489 		1.000 0.040 2 178617508 splice acceptor variant CT/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060500495
rs1060500495 		1.000 0.040 2 178552140 stop gained C/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060500514
rs1060500514 		1.000 0.040 2 178574890 frameshift variant A/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060500525
rs1060500525 		1.000 0.040 2 178559797 stop gained G/A snv 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060500544
rs1060500544 		1.000 0.040 2 178544456 frameshift variant GT/- delins 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060500572
rs1060500572 		1.000 0.040 2 178563084 frameshift variant T/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060500575
rs1060500575 		1.000 0.040 2 178576081 stop gained G/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1060500593
rs1060500593 		1.000 0.040 2 178565028 frameshift variant -/ATTT delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1064792914
rs1064792914 		1.000 0.040 2 178592434 stop gained -/AAAGAATAAATTCCACCATCTTCATGGGCAGCATTACGAA delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1064792915
rs1064792915 		1.000 0.040 2 178608280 frameshift variant AAGCCATCTACATTGGCTTTCAAGGCAT/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1064793419
rs1064793419 		1.000 0.040 2 178542739 frameshift variant -/T delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1064793845
rs1064793845 		1.000 0.040 2 178578006 frameshift variant -/A delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1064795407
rs1064795407 		1.000 0.040 2 178563537 frameshift variant -/T delins 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1219954334
rs1219954334 		1.000 0.040 2 178547443 frameshift variant -/CTGCTAG delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1389908421
rs1389908421 		1.000 0.040 2 178678746 splice donor variant C/T snv 4.2E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs140743001
rs140743001 		1.000 0.040 2 178630250 stop gained G/A snv 8.1E-06 1.4E-05
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1416873295
rs1416873295 		1.000 0.040 2 178602591 splice acceptor variant C/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0
dbSNP: rs1436663696
rs1436663696 		1.000 0.040 2 178554897 stop gained G/A;T snv 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 0