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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 4 | 113373306 | missense variant | C/T | snv | 1.0E-03 | 9.2E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
4 | 113356784 | missense variant | G/A | snv | 4.0E-05 | 7.0E-05 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 4 | 113348277 | missense variant | A/G | snv | 5.5E-04 | 8.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 4 | 113353494 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 4 | 113354767 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 4 | 113356741 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 4 | 112807837 | intergenic variant | G/A | snv | 0.22 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 4 | 113047052 | intron variant | T/C | snv | 0.62 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 4 | 112770562 | intergenic variant | A/G | snv | 0.63 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 4 | 112819845 | intron variant | A/G | snv | 1.0E-01 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.200 | 4 | 113373306 | missense variant | C/T | snv | 1.0E-03 | 9.2E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 4 | 112743327 | downstream gene variant | G/A;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 4 | 112770269 | regulatory region variant | G/A | snv | 0.32 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 4 | 113046786 | intron variant | T/C | snv | 8.7E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.040 | 4 | 113329637 | intron variant | G/C | snv | 9.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 4 | 113329637 | intron variant | G/C | snv | 9.5E-02 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 4 | 112776849 | intergenic variant | G/T | snv | 9.6E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 113288576 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 4 | 112810934 | intergenic variant | T/C | snv | 0.43 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 4 | 112810934 | intergenic variant | T/C | snv | 0.43 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 112933404 | intron variant | T/A;G | snv | 0.12 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 4 | 112805438 | intergenic variant | T/C | snv | 0.60 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 4 | 112806976 | intergenic variant | C/A | snv | 0.60 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 4 | 112762210 | regulatory region variant | C/T | snv | 0.13 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 4 | 112798156 | non coding transcript exon variant | T/C;G | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 |