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 | 21 | 37354975 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 21 | 37352009 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 5 | 63300417 | upstream gene variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.030 | 1.000 | 3 | 1998 | 2012 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
3 | 0.925 | 0.040 | 3 | 8752859 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 11 | 114818979 | intergenic variant | C/T | snv | 6.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 4 | 46080161 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.080 | 17 | 45832722 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 4 | 46270789 | intron variant | G/A | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 4 | 46389047 | 5 prime UTR variant | T/C | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 3 | 8768722 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 6 | 40305718 | intergenic variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 4 | 46196917 | intergenic variant | G/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 3 | 8749760 | intron variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 6 | 40292776 | intergenic variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 |