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 | 0.040 | 16 | 50710953 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 50711152 | missense variant | A/C;G | snv | 4.0E-06; 7.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 50711203 | missense variant | C/T | snv | 9.7E-04 | 1.0E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 16 | 50711232 | missense variant | G/A | snv | 3.1E-04 | 3.3E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 16 | 50711745 | missense variant | G/A;T | snv | 6.4E-04; 5.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 50711746 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 50712048 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 16 | 50712184 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 16 | 50712243 | missense variant | G/A | snv | 2.4E-04 | 2.0E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 16 | 50712288 | missense variant | G/A;T | snv | 1.1E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 50716651 | missense variant | G/A | snv | 8.0E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 16 | 50716902 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 50716931 | missense variant | A/G;T | snv | 1.3E-03; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 50722678 | missense variant | G/A;T | snv | 6.8E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 50699751 | missense variant | G/A;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 50710981 | missense variant | A/C | snv | 2.4E-04 | 1.5E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 16 | 50710998 | missense variant | A/T | snv | 4.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 16 | 50711559 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 50699832 | missense variant | G/A | snv | 1.7E-03 | 7.1E-03 | 0.700 | 0 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 1999 | 2016 | |||
|
1 | 1.000 | 0.040 | 1 | 206772393 | missense variant | C/T | snv | 1.9E-03 | 1.8E-03 | 0.030 | 0.667 | 3 | 2000 | 2005 | |||
|
5 | 0.827 | 0.160 | 12 | 50992283 | synonymous variant | A/G | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 1.000 | 0.940 | 83 | 2001 | 2018 | |||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 1.000 | 0.949 | 78 | 2001 | 2019 | ||||
|
1 | 1.000 | 0.040 | 16 | 50710966 | missense variant | A/G | snv | 9.6E-04 | 3.8E-03 | 0.710 | 1.000 | 7 | 2001 | 2018 |