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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 20 | 49511026 | splice donor variant | A/G | snv | 3.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
10 | 0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 1 | 70439117 | missense variant | G/T | snv | 0.28 | 0.24 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 5 | 148826465 | 5 prime UTR variant | C/T | snv | 0.68 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | X | 15590376 | intron variant | T/G | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
5 | 1.000 | 0.040 | 5 | 148825809 | 5 prime UTR variant | A/G | snv | 0.59 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 12 | 47870045 | intron variant | G/T | snv | 0.36 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 137634104 | synonymous variant | C/T | snv | 0.22 | 0.17 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.040 | 2 | 224497761 | missense variant | C/T | snv | 0.13 | 8.6E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 4 | 2886214 | intron variant | C/G | snv | 4.3E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
41 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 13 | 29514470 | 3 prime UTR variant | G/A | snv | 6.6E-02 | 6.5E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
5 | 0.882 | 0.040 | 4 | 148152550 | stop gained | G/A;T | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.040 | 1 | 70406697 | upstream gene variant | A/G | snv | 0.52 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.040 | X | 116173571 | 3 prime UTR variant | G/T | snv | 0.19 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.040 | X | 129656490 | upstream gene variant | A/G | snv | 0.11 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 20 | 49513169 | stop gained | G/A;T | snv | 4.0E-06; 0.25 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
16 | 0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 | 0.010 | < 0.001 | 1 | 1998 | 1998 | |||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
4 | 0.851 | 0.120 | X | 15596749 | intron variant | G/C | snv | 5.0E-03 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 137620994 | 3 prime UTR variant | C/T | snv | 0.11 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.160 | X | 129655744 | upstream gene variant | A/C | snv | 0.11 | 0.020 | 0.500 | 2 | 2010 | 2016 | ||||
|
2 | 0.925 | 0.120 | 7 | 151004695 | intron variant | G/A | snv | 0.35 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 0.500 | 2 | 2005 | 2014 | |||||
|
16 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 0.020 | 0.500 | 2 | 1994 | 2018 |