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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 4 | 88008090 | frameshift variant | CCCGGGCA/TAGGACG | delins | 0.700 | 0 | ||||||||||
|
3 | X | 108668328 | missense variant | G/T | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.040 | 17 | 6707026 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.360 | 17 | 58208153 | inframe deletion | GAG/- | delins | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 1.000 | 1 | 243330591 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.040 | 1.000 | 4 | 2000 | 2019 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2006 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 2005 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2005 | 2019 | |||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
43 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.925 | 0.080 | 1 | 196737547 | missense variant | G/A;C;T | snv | 4.8E-05; 1.7E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
72 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2008 | 2014 | |||||
|
1 | 8 | 71335939 | intron variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
6 | 0.851 | 0.200 | 15 | 79862640 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.851 | 0.160 | 10 | 112994329 | intron variant | T/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.040 | 1.000 | 4 | 2009 | 2015 | ||||
|
1 | 19 | 44907825 | missense variant | G/A | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2009 | ||||||
|
30 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.020 | 1.000 | 2 | 2009 | 2009 | ||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.020 | 1.000 | 2 | 2009 | 2019 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.020 | 1.000 | 2 | 2009 | 2016 |