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 | 0.200 | 1 | 156137666 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.030 | 1.000 | 3 | 2003 | 2009 | |||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 3 | 114171850 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
15 | 0.724 | 0.560 | 3 | 49357413 | missense variant | A/G | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.851 | 0.080 | 3 | 123352464 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
34 | 0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
34 | 0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 | 0.700 | 0 | |||||||
|
54 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 5 | 1428399 | intron variant | G/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 5 | 79517086 | upstream gene variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.807 | 0.280 | 6 | 160139813 | missense variant | A/C;G | snv | 5.3E-05; 0.63 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2003 | 2010 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
27 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.160 | 9 | 32974556 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.030 | 1.000 | 3 | 2009 | 2018 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.050 | 1.000 | 5 | 2007 | 2018 | |||
|
2 | 0.925 | 0.080 | 12 | 117263909 | synonymous variant | A/G;T | snv | 0.69; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 |