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 | 1.000 | 0.080 | 1 | 228157761 | start lost | G/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 7 | 99930354 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1.000 | 0.120 | 12 | 57471538 | missense variant | G/A | snv | 0.50 | 0.48 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 12 | 57459370 | non coding transcript exon variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 1.000 | 5 | 140679789 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 1.000 | 0.040 | 7 | 76304100 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.925 | 0.080 | 7 | 76303841 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.040 | 1 | 220143109 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.752 | 0.400 | 1 | 26427451 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 1 | 156115262 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.120 | 5 | 609978 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 5 | 79890115 | intergenic variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
19 | 0.827 | 0.240 | 1 | 11992659 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.882 | 0.080 | 1 | 161306426 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
3 | 1.000 | 19 | 50268255 | missense variant | G/A;T | snv | 6.2E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.827 | 0.200 | 8 | 24956452 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 3 | 25729208 | frameshift variant | ATTG/- | delins | 1.7E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.851 | 0.080 | X | 24503479 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
11 | 0.851 | 0.240 | 1 | 145916914 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 |