| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 7 | 100701361 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 1.000 | 0.040 | 4 | 102527974 | intron variant | A/G | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
43 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 103260136 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 12 | 103499163 | upstream gene variant | G/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
25 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.807 | 0.160 | 19 | 10489742 | synonymous variant | G/A | snv | 1.9E-02 | 1.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 14 | 105668934 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 3 | 105780995 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 3 | 106216106 | intron variant | G/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 4 | 10715315 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.160 | 7 | 107661725 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.160 | 7 | 107672245 | missense variant | G/A;C;T | snv | 1.8E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 107727331 | intron variant | A/C | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 107793911 | intron variant | A/C | snv | 0.11 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 107809190 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 107813097 | intron variant | C/T | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 1 | 107816883 | intron variant | T/C | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 107823394 | intron variant | T/C | snv | 9.0E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 107826861 | intron variant | G/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 108443515 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 8 | 109087904 | missense variant | T/A;C | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 1 | 109823461 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 12 | 110051403 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv | 0.700 | 0 |