| Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.851 | 0.160 | 19 | 44892962 | intron variant | C/T | snv | 0.24 | 0.29 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
11 | 0.882 | 0.120 | 19 | 44906745 | non coding transcript exon variant | G/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 11 | 79730650 | intergenic variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 9 | 88973603 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 7 | 54496119 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 8 | 93011994 | intron variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.080 | 20 | 37758210 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 20 | 959154 | 3 prime UTR variant | C/T | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 9 | 90331096 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 1 | 13913797 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 8 | 144902955 | upstream gene variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 5 | 51259335 | intergenic variant | T/C | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 16 | 26440122 | intergenic variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 12 | 69662005 | intron variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 85495401 | intron variant | A/G | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 19 | 38761240 | intron variant | C/A;G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 16 | 69282015 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 4 | 188507189 | intron variant | G/A;T | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 53804550 | intron variant | A/G | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 73264813 | intergenic variant | T/C | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 31371254 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 10 | 52058389 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |