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 | 1 | 10107367 | missense variant | G/A | snv | 2.4E-03 | 2.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 4 | 10117121 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 10 | 101845957 | 3 prime UTR variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 10 | 102230055 | downstream gene variant | G/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 4 | 102969823 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 4 | 102994461 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 10 | 103517717 | intron variant | C/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 103539854 | intron variant | T/C | snv | 0.27 | 0.740 | 0.800 | 5 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.080 | 10 | 103562124 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 103565017 | intron variant | C/T | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||
|
1 | 1.000 | 0.080 | 10 | 103582915 | non coding transcript exon variant | A/G | snv | 0.16 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 103717405 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 10 | 103720629 | intron variant | T/A | snv | 0.11 | 0.700 | 1.000 | 4 | 2017 | 2018 | ||||
|
3 | 1.000 | 0.080 | 9 | 106870072 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 5 | 107091908 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 7 | 107215557 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 10730740 | intron variant | C/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
22 | 0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | X | 109624828 | missense variant | G/A | snv | 9.3E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 110334761 | intergenic variant | G/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.080 | 12 | 110345436 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 4 | 110603473 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 4 | 110618481 | missense variant | T/C | snv | 2.8E-04 | 2.3E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 |