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 | 5 | 76971301 | intron variant | G/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 22 | 15376497 | intergenic variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 12 | 21839392 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 159740727 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 7811169 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 7 | 145416641 | intergenic variant | G/T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
1 | 4 | 47320137 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 6016936 | intergenic variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 17 | 45829462 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 6 | 151875817 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1 | 7796286 | intron variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 7 | 103471538 | intron variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 131616057 | intron variant | A/G | snv | 0.56 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 165047713 | intron variant | C/A | snv | 0.55 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||
|
1 | 12 | 6839735 | 3 prime UTR variant | A/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 18 | 45951902 | intron variant | A/G | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 186491213 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 11 | 18029360 | missense variant | C/T | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 6002360 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 236885125 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 133887223 | regulatory region variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 18 | 49583585 | missense variant | A/C;G | snv | 4.0E-06; 8.7E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 17 | 76081416 | 3 prime UTR variant | G/A;C;T | snv | 1.6E-05; 0.54; 4.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.967 | 30 | 2007 | 2020 |