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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 8 | 18774816 | non coding transcript exon variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.800 | 1.000 | 3 | 2011 | 2018 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.800 | 1.000 | 2 | 2009 | 2018 | |||
|
3 | 1.000 | 0.080 | 10 | 113048313 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 9 | 22132699 | downstream gene variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.080 | 3 | 185789511 | intron variant | A/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 3 | 171017310 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 20 | 22611792 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 2 | 168910638 | intron variant | T/C | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 44964941 | intron variant | G/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 2 | 172727935 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.080 | 7 | 15025987 | intergenic variant | A/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 1.000 | 0.080 | 7 | 14858657 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 2 | 168907981 | missense variant | T/C | snv | 5.1E-03 | 3.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 11 | 2714304 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 7 | 44166307 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.080 | 6 | 39065819 | missense variant | G/A;C;T | snv | 3.6E-02 | 1.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 13 | 27936575 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 9 | 4285119 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 11 | 2836003 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1 | 200273504 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 7 | 44192287 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
24 | 12 | 111280427 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.080 | 6 | 20667151 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 |