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 | 8 | 127395871 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 3 | 177053096 | intron variant | C/T | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 142877100 | missense variant | T/C | snv | 2.0E-04 | 4.5E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | X | 131278706 | missense variant | T/C;G | snv | 3.8E-05; 9.5E-03 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 14158408 | missense variant | C/T | snv | 4.2E-02 | 4.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 8 | 17578682 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 11 | 128863066 | intron variant | G/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 3 | 53673113 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 186671393 | downstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 12 | 6537702 | missense variant | A/G | snv | 2.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1 | 159713878 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 16 | 30121948 | missense variant | C/G;T | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 2 | 233767063 | synonymous variant | A/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 0.400 | 5 | 2001 | 2008 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 1.000 | 12 | 2005 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 11 | 2005 | 2019 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 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 | 2005 | 2005 | |||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2005 | 2005 |