Source: CURATED

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: rs2288327
rs2288327
TTN ; TTN-AS1
1.000 0.080 2 178546938 intron variant A/G snv 0.23 0.22
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.700 1.000 3 2018 2018
dbSNP: rs10171049
rs10171049
TTN ; TTN-AS1
1.000 0.040 2 178757137 intron variant G/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs10497522
rs10497522
TTN
1.000 0.040 2 178787320 intron variant C/T snv 6.6E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs10497523
rs10497523
TTN
1.000 0.040 2 178788075 intron variant A/G snv 0.63
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs11895382
rs11895382
TTN ; TTN-AS1
1.000 0.040 2 178759598 intron variant T/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs11902709
rs11902709
TTN ; TTN-AS1
1.000 0.040 2 178743480 intron variant C/T snv 7.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs12614435
rs12614435
TTN ; TTN-AS1
1.000 0.080 2 178624999 intron variant A/G snv 0.18
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.700 1.000 1 2018 2018
dbSNP: rs1489486
rs1489486
TTN
2 178820256 intron variant A/G snv 0.83
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs2054708
rs2054708
TTN
1.000 0.040 2 178780850 intron variant C/T snv 0.83
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs2291313
rs2291313
TTN ; TTN-AS1
1.000 0.040 2 178767983 intron variant T/C snv 0.66 0.66
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs35770984
rs35770984
TTN ; TTN-AS1
2 178761353 intron variant T/A snv 0.27
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs3754953
rs3754953
TTN ; TTN-AS1
1.000 0.040 2 178753292 intron variant T/A snv 0.87
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs4471922
rs4471922
TTN ; TTN-AS1
1.000 0.040 2 178768571 intron variant G/T snv 0.71
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs4894037
rs4894037
TTN ; TTN-AS1
1.000 0.040 2 178758415 intron variant A/G snv 0.11
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs4894044
rs4894044
TTN ; TTN-AS1
1.000 0.040 2 178767406 intron variant A/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs7561149
rs7561149
TTN ; CCDC141
2 178825129 intron variant T/C snv 0.33
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2014 2014
dbSNP: rs7600001
rs7600001
TTN ; TTN-AS1
1.000 0.040 2 178760002 intron variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs7604033
rs7604033
TTN ; TTN-AS1
1.000 0.040 2 178761290 intron variant C/T snv 0.11
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs878854324
rs878854324
TTN ; TTN-AS1
0.925 0.160 2 178589804 stop gained G/A;T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 14 1991 2014
dbSNP: rs752697861
rs752697861
TTN ; TTN-AS1
0.925 0.160 2 178534092 stop gained G/A snv 4.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 7 2008 2017
dbSNP: rs752697861
rs752697861
TTN ; TTN-AS1
0.925 0.160 2 178534092 stop gained G/A snv 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 7 2008 2017
dbSNP: rs1057518195
rs1057518195
TTN ; TTN-AS1
0.925 0.160 2 178535790 stop gained G/A snv 4.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2008 2015
dbSNP: rs1057518195
rs1057518195
TTN ; TTN-AS1
0.925 0.160 2 178535790 stop gained G/A snv 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 4 2008 2015
dbSNP: rs397517689
rs397517689
TTN ; TTN-AS1
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2013 2017
dbSNP: rs397517689
rs397517689
TTN ; TTN-AS1
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 4 2013 2017