| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 201047168 | missense variant | G/A | snv | 0.12 | 8.9E-02 |
|
0.700 | 1.000 | 5 | 2016 | 2019 | |||||||||
|
1.000 | 0.040 | 1 | 150968149 | missense variant | T/A;G | snv | 4.0E-06; 0.15 |
|
0.700 | 1.000 | 4 | 2017 | 2019 | ||||||||
|
1 | 112716059 | non coding transcript exon variant | T/C | snv | 8.9E-02 |
|
0.700 | 1.000 | 3 | 2019 | 2019 | ||||||||||
|
1 | 100342807 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
1 | 243338461 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
1 | 171486183 | intron variant | C/T | snv | 7.3E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 180936558 | synonymous variant | C/T | snv | 0.31 | 0.27 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
1 | 23365736 | intron variant | A/C | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 15581747 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 214571550 | regulatory region variant | T/C | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 172377408 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 109348511 | intron variant | C/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 243324884 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 15586492 | non coding transcript exon variant | G/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 163769110 | downstream gene variant | T/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 109469667 | intron variant | G/A | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 82478888 | intron variant | G/A | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 186689080 | regulatory region variant | C/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 46116261 | intron variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 16231196 | non coding transcript exon variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 18481459 | missense variant | C/A | snv | 0.34 | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 184895998 | intron variant | T/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 205568730 | upstream gene variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 18483422 | 3 prime UTR variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 15543404 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |