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 | 0.080 | 7 | 113878300 | missense variant | G/T | snv | 1.4E-03 | 1.5E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 171005284 | splice donor variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 11 | 92969849 | missense variant | G/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.763 | 0.240 | 20 | 44406195 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 7 | 44150004 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 11 | 17394379 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.160 | 11 | 17412716 | stop gained | G/A | snv | 6.1E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.160 | 11 | 17474955 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.280 | 12 | 120996568 | missense variant | C/A;G;T | snv | 2.4E-05; 1.9E-04; 3.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 20 | 45285365 | intergenic variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 7 | 44147747 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 13 | 27924341 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 12350786 | intron variant | A/C;G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 8 | 19951825 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1993 | 1993 | |||
|
1 | 1.000 | 0.080 | 2 | 74872350 | missense variant | A/T | snv | 0.18 | 0.19 | 0.020 | 1.000 | 2 | 1995 | 1996 | |||
|
1 | 1.000 | 0.080 | 18 | 76849628 | missense variant | A/G;T | snv | 4.1E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
1 | 1.000 | 0.080 | 18 | 76849634 | missense variant | A/G | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
2 | 1.000 | 0.080 | 5 | 96429259 | missense variant | C/A;T | snv | 4.0E-06; 2.1E-03 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
1 | 1.000 | 0.080 | 2 | 226798113 | missense variant | A/G | snv | 5.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
1 | 1.000 | 0.080 | 2 | 226796313 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
8 | 0.851 | 0.160 | 5 | 96393270 | missense variant | G/C | snv | 0.27 | 0.24 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
1 | 1.000 | 0.080 | 19 | 7142929 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
1 | 1.000 | 0.080 | 18 | 76904406 | missense variant | C/G | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
6 | 0.807 | 0.200 | 12 | 120994265 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.080 | 19 | 48974718 | missense variant | G/A;C;T | snv | 4.0E-05; 3.3E-04; 6.8E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 |