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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 12 | 49925303 | non coding transcript exon variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 9 | 11890045 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 13 | 76978136 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 12 | 61858476 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 4 | 54619021 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 7 | 89349373 | intergenic variant | T/A | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 1895465 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 14 | 59440374 | intron variant | A/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 14 | 77817693 | intron variant | A/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 153493087 | intergenic variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 79547564 | intergenic variant | C/A | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 11 | 119655426 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 16 | 89939045 | downstream gene variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 3 | 87264203 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 20 | 12018497 | intergenic variant | A/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 20 | 12014779 | intergenic variant | A/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 20 | 12015619 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 6 | 25590813 | intron variant | C/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.733 | 15 | 2006 | 2020 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.714 | 14 | 2006 | 2019 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.090 | 0.778 | 9 | 1999 | 2016 | |||
|
7 | 0.827 | 0.080 | 9 | 4576680 | synonymous variant | T/C | snv | 0.36 | 0.38 | 0.060 | 1.000 | 6 | 2007 | 2019 | |||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.060 | 0.833 | 6 | 2007 | 2018 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.050 | 0.600 | 5 | 2007 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 4594919 | intron variant | C/G | snv | 0.72 | 0.050 | 0.800 | 5 | 2010 | 2019 |