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 | 0.080 | 19 | 50417229 | missense variant | C/T | snv | 8.5E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 9 | 127658446 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
23 | 0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
12 | 0.807 | 0.360 | 7 | 99784473 | upstream gene variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 3 | 49026677 | intron variant | A/G | snv | 8.3E-02 | 7.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.080 | 16 | 16090375 | intron variant | C/G | snv | 0.81 | 0.83 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.080 | 7 | 128400645 | non coding transcript exon variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.790 | 0.320 | 1 | 173208253 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.807 | 0.360 | 13 | 108208829 | stop gained | G/A | snv | 9.9E-05 | 7.0E-05 | 0.700 | 1.000 | 2 | 2001 | 2014 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
7 | 0.851 | 0.160 | 22 | 37232842 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
17 | 0.716 | 0.280 | 14 | 23425316 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
15 | 0.732 | 0.240 | 1 | 171636338 | stop gained | G/A | snv | 1.1E-03 | 8.7E-04 | 0.700 | 0 |