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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 2 | 46127912 | intron variant | A/C | snv | 0.43 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
24 | 0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 | 0.700 | 1.000 | 2 | 2010 | 2017 | ||||
|
3 | 19 | 2161322 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||
|
3 | 8 | 21934261 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 6 | 139523292 | intron variant | G/A | snv | 0.50 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||||
|
6 | 6 | 139519556 | intron variant | A/C | snv | 0.50 | 0.800 | 1.000 | 2 | 2009 | 2016 | ||||||
|
2 | 20 | 50485053 | intergenic variant | T/C | snv | 0.58 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 2 | 111410354 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
8 | 1.000 | 0.040 | 7 | 1246931 | regulatory region variant | G/T | snv | 0.51 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
4 | 12 | 88424702 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
3 | 6 | 109292049 | intron variant | A/C;T | snv | 0.800 | 1.000 | 2 | 2009 | 2017 | |||||||
|
3 | 13 | 113849020 | intron variant | T/C | snv | 0.44 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 6 | 7232156 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 2 | 207134989 | intron variant | G/A | snv | 0.65 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
8 | 0.925 | 0.120 | 1 | 155208991 | missense variant | T/A | snv | 0.36 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 6 | 135166476 | intergenic variant | A/G | snv | 0.13 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 18 | 48680897 | intron variant | G/A | snv | 1.9E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 19 | 33263642 | intergenic variant | C/T | snv | 6.8E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 11 | 108473354 | 3 prime UTR variant | G/A | snv | 0.43 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 6 | 44062274 | non coding transcript exon variant | A/G | snv | 0.92 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 1.000 | 0.040 | 22 | 45968281 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
7 | 6 | 135090090 | intron variant | T/C | snv | 0.19 | 0.800 | 1.000 | 2 | 2009 | 2018 | ||||||
|
10 | 0.851 | 0.120 | 6 | 135106006 | upstream gene variant | C/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
3 | 6 | 109311596 | intron variant | A/G | snv | 0.40 | 0.800 | 1.000 | 2 | 2009 | 2017 |