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 | 19 | 51024108 | missense variant | G/A;C | snv | 6.0E-02; 4.2E-06 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 11 | 6394233 | missense variant | G/A;C | snv | 0.19 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 11 | 126201454 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
2 | 1.000 | 15 | 80180184 | missense variant | C/A;T | snv | 1.7E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
1 | 21 | 44236891 | missense variant | C/T | snv | 0.27 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 3 | 148844612 | intron variant | G/A;T | snv | 0.22; 4.0E-06 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 6 | 3003736 | 5 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 8 | 21693256 | 3 prime UTR variant | A/C;G;T | snv | 0.48; 1.2E-05 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
4 | 14 | 69888141 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.080 | 3 | 186677324 | missense variant | A/G;T | snv | 0.20; 4.0E-06 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 22 | 17188416 | missense variant | T/A;C;G | snv | 8.0E-06; 0.34; 1.2E-05 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 19 | 54338671 | missense variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
18 | 0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 19 | 10289434 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
1 | 19 | 54279520 | missense variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 1 | 169696410 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
19 | 0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
8 | 1.000 | 0.040 | 9 | 133273983 | intron variant | A/G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 20 | 41361737 | missense variant | G/C;T | snv | 3.3E-02; 4.0E-06 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 3 | 52786965 | missense variant | A/G;T | snv | 0.36 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 2 | 224015781 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 19 | 38301201 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 3 | 43106160 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 4 | 87541577 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 |