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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.200 | 3 | 122261589 | missense variant | G/A;C | snv | 0.810 | 1.000 | 35 | 1976 | 2016 | |||||
|
1 | 0.851 | 0.120 | 3 | 122254304 | missense variant | C/G;T | snv | 0.810 | 1.000 | 20 | 1993 | 2016 | |||||
|
4 | 0.827 | 0.160 | 3 | 122261715 | missense variant | G/A;T | snv | 4.0E-06 | 0.810 | 1.000 | 0 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 3 | 122261924 | missense variant | G/A | snv | 0.800 | 1.000 | 25 | 1993 | 2016 | |||||
|
2 | 0.925 | 0.120 | 3 | 122257308 | missense variant | C/T | snv | 0.800 | 1.000 | 22 | 1992 | 2016 | |||||
|
2 | 0.925 | 0.120 | 3 | 122261549 | missense variant | A/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 22 | 1993 | 2016 | ||||
|
2 | 0.925 | 0.120 | 3 | 122283699 | missense variant | G/A;T | snv | 0.800 | 1.000 | 20 | 1993 | 2016 | |||||
|
1 | 0.925 | 0.040 | 3 | 122254227 | missense variant | T/C | snv | 0.800 | 1.000 | 20 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.040 | 3 | 122282161 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1993 | 2016 | |||||
|
3 | 0.882 | 0.160 | 3 | 122284337 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 20 | 1993 | 2016 | ||||
|
5 | 0.851 | 0.160 | 3 | 122257323 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.040 | 3 | 122254374 | missense variant | G/T | snv | 0.800 | 1.000 | 20 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.040 | 3 | 122257091 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.040 | 3 | 122261574 | missense variant | T/G | snv | 0.800 | 1.000 | 20 | 1993 | 2016 | |||||
|
3 | 0.851 | 0.160 | 3 | 122261697 | missense variant | C/A;T | snv | 0.800 | 1.000 | 20 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.040 | 3 | 122284869 | missense variant | C/T | snv | 4.4E-05 | 1.4E-05 | 0.800 | 0 | ||||||
|
2 | 0.882 | 0.120 | 3 | 122283896 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.730 | 1.000 | 0 | 2001 | 2004 | ||||
|
2 | 0.827 | 0.280 | 3 | 122283992 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.710 | 1.000 | 6 | 1995 | 2012 | |||
|
3 | 0.882 | 0.160 | 3 | 122261567 | missense variant | A/G | snv | 0.710 | 1.000 | 0 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 3 | 122275828 | missense variant | G/A;T | snv | 0.700 | 1.000 | 20 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.040 | 3 | 122257092 | missense variant | G/A;T | snv | 0.700 | 1.000 | 20 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.040 | 3 | 122284359 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 20 | 1993 | 2016 | |||
|
3 | 0.851 | 0.200 | 3 | 122261693 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 20 | 1993 | 2016 | ||||
|
1 | 1.000 | 0.040 | 3 | 122254314 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1993 | 2016 | |||||
|
1 | 0.925 | 0.040 | 3 | 122254221 | missense variant | T/C | snv | 4.2E-05 | 0.700 | 1.000 | 20 | 1993 | 2016 |