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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.080 | 19 | 17192965 | missense variant | T/A;G | snv | 1.3E-05; 0.52 | 0.030 | 0.667 | 3 | 2006 | 2016 | ||||
|
5 | 0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 | 0.820 | 1.000 | 3 | 2006 | 2017 | ||||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.720 | 1.000 | 3 | 2006 | 2010 | ||||
|
5 | 0.851 | 0.240 | 5 | 132393705 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2010 | ||||
|
15 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 0.020 | 0.500 | 2 | 2006 | 2007 | ||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.020 | 1.000 | 2 | 2006 | 2006 | |||
|
10 | 0.790 | 0.200 | 7 | 30452621 | missense variant | C/T | snv | 0.27 | 0.28 | 0.020 | 1.000 | 2 | 2006 | 2007 | |||
|
26 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
9 | 0.776 | 0.280 | 6 | 18130687 | missense variant | T/C;G | snv | 3.7E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 16 | 50711025 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1 | 19 | 18596702 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
7 | 0.807 | 0.320 | 2 | 21032408 | missense variant | G/A;C;T | snv | 1.7E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 19 | 10284797 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1 | 19 | 7689215 | missense variant | G/A;C | snv | 2.4E-03; 1.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1 | 7 | 30452303 | missense variant | C/T | snv | 3.5E-03 | 1.1E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 16 | 50711106 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1 | 16 | 50710710 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
3 | 1.000 | 0.080 | 17 | 47292176 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.070 | 1.000 | 7 | 2007 | 2020 | |||
|
3 | 0.925 | 0.040 | 10 | 77811115 | frameshift variant | G/-;GG | delins | 0.030 | 1.000 | 3 | 2007 | 2016 | |||||
|
6 | 0.827 | 0.040 | 16 | 50710812 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.030 | 1.000 | 3 | 2007 | 2009 | ||||
|
3 | 0.925 | 0.040 | 10 | 77811115 | missense variant | G/A;C;T | snv | 4.0E-06; 8.0E-06; 5.7E-02 | 0.030 | 1.000 | 3 | 2007 | 2016 | ||||
|
9 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.020 | 1.000 | 2 | 2007 | 2012 | ||||
|
8 | 0.790 | 0.280 | 1 | 67287825 | intergenic variant | C/T | snv | 0.55 | 0.020 | 1.000 | 2 | 2007 | 2009 | ||||
|
6 | 0.851 | 0.240 | 1 | 157700967 | upstream gene variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2007 | 2007 |