H19, H19 imprinted maternally expressed transcript, 283120
N. diseases: 242; N. variants: 15
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.240 | 11 | 2000419 | intron variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.280 | 11 | 1995389 | non coding transcript exon variant | A/G | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 2000395 | intron variant | C/T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.732 | 0.280 | 11 | 1999845 | intron variant | C/T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 2000585 | intron variant | T/C | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.240 | 11 | 2000419 | intron variant | T/C | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.240 | 11 | 2000419 | intron variant | T/C | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.200 | 11 | 1996209 | non coding transcript exon variant | C/G;T | snv | 0.46; 5.2E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.280 | 11 | 1995389 | non coding transcript exon variant | A/G | snv | 0.42 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 2000629 | intron variant | G/T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 |
|
Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 11 | 1996938 | non coding transcript exon variant | C/A;T | snv | 7.0E-06; 0.41 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |