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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.752 | 0.480 | X | 12889539 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 22 | 17313079 | intergenic variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 20 | 16208618 | intron variant | T/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 20 | 15130492 | intron variant | A/G | snv | 0.88 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 19 | 48873985 | missense variant | G/A;C | snv | 1.2E-05; 0.20 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 18 | 43111710 | intron variant | C/T | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 17 | 79365094 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.120 | 17 | 39724861 | missense variant | G/A | snv | 1.2E-03 | 2.6E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 17 | 7493724 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
28 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 15 | 88877743 | 3 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 14 | 100264583 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 14 | 100224841 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 13 | 47544647 | intergenic variant | G/A | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.090 | 0.889 | 9 | 2010 | 2017 | |||||
|
17 | 0.732 | 0.240 | 12 | 25227343 | missense variant | G/C;T | snv | 0.030 | 1.000 | 3 | 2013 | 2017 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.080 | 12 | 47859144 | intron variant | T/C | snv | 3.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
29 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 11 | 100559322 | intergenic variant | A/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 10 | 96663139 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.160 | 10 | 80166946 | missense variant | G/A;C | snv | 0.42; 4.2E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 116757309 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 8 | 6781719 | non coding transcript exon variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 |