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 | 6 | 106666486 | 3 prime UTR variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 107175067 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 6 | 107732765 | intron variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 19 | 1079960 | missense variant | G/A | snv | 5.7E-02 | 5.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 8 | 10815498 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 108536216 | intron variant | G/A | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 109452275 | intron variant | G/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 8 | 109515920 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 5 | 109519334 | intergenic variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 109538187 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.120 | 16 | 10969079 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1 | 109734781 | 3 prime UTR variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 11022815 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1 | 110817180 | regulatory region variant | G/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 110849824 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 2 | 111116484 | intron variant | CTCTGAAAACCTGAAATG/- | delins | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 111248881 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 2 | 111481505 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 111991551 | missense variant | A/G | snv | 4.8E-02 | 4.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 12 | 112927776 | intron variant | C/T | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 113216055 | 3 prime UTR variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 13 | 113930357 | upstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 13 | 114182035 | intron variant | G/A | snv | 6.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 |