| 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 | 1 | 94001005 | missense variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94001046 | synonymous variant | C/G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 1 | 94001059 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||||
|
1 | 1.000 | 1 | 94001062 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 0.925 | 0.040 | 1 | 94001068 | missense variant | C/G;T | snv | 1.5E-03 | 0.800 | 1.000 | 6 | 1998 | 2017 | ||||
|
1 | 1.000 | 1 | 94001069 | missense variant | G/A;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 94001072 | missense variant | G/A | snv | 1.0E-04 | 3.3E-04 | 0.800 | 1.000 | 22 | 1997 | 2017 | ||||
|
1 | 1.000 | 1 | 94001102 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||
|
1 | 1.000 | 1 | 94001107 | splice acceptor variant | TG/CT | mnv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1.000 | 1 | 94001910 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2017 | |||||
|
3 | 0.925 | 0.080 | 1 | 94001911 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 23 | 1997 | 2019 | ||||
|
3 | 0.882 | 0.080 | 1 | 94001992 | missense variant | C/G | snv | 3.0E-03 | 3.0E-03 | 0.800 | 1.000 | 5 | 1997 | 2017 | |||
|
1 | 1.000 | 1 | 94005469 | missense variant | C/T | snv | 3.1E-04 | 2.6E-04 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.080 | 1 | 94005470 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 0.710 | 1.000 | 2 | 2003 | 2019 | |||
|
1 | 1.000 | 1 | 94005476 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 0.800 | 1.000 | 21 | 1997 | 2017 | ||||
|
1 | 1.000 | 1 | 94005484 | missense variant | A/G | snv | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||||
|
2 | 1.000 | 1 | 94005490 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.790 | 0.080 | 1 | 94005499 | missense variant | C/T | snv | 3.5E-04 | 4.7E-04 | 0.800 | 1.000 | 24 | 1997 | 2017 | |||
|
6 | 0.827 | 0.080 | 1 | 94005500 | stop gained | G/A | snv | 2.8E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 1999 | 2019 | |||
|
5 | 0.851 | 0.080 | 1 | 94005509 | missense variant | G/A | snv | 2.0E-04 | 1.7E-04 | 0.800 | 1.000 | 25 | 1997 | 2017 | |||
|
4 | 0.851 | 0.080 | 1 | 94005511 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 1 | 94007697 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 1 | 94007703 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2017 | |||||
|
3 | 0.882 | 0.080 | 1 | 94007710 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||
|
1 | 1.000 | 1 | 94007716 | missense variant | C/G | snv | 0.700 | 1.000 | 19 | 1997 | 2014 |