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 | 17 | 63496923 | missense variant | C/G;T | snv | 2.4E-05; 3.2E-04 | 0.020 | 1.000 | 2 | 1998 | 2004 | ||||
|
1 | 1.000 | 0.040 | 4 | 2988772 | missense variant | G/A;T | snv | 4.8E-05; 0.32 | 0.020 | 1.000 | 2 | 2006 | 2016 | ||||
|
1 | 1.000 | 0.040 | X | 116173577 | 3 prime UTR variant | A/G | snv | 0.020 | 0.500 | 2 | 2006 | 2014 | |||||
|
1 | 1.000 | 0.040 | 2 | 237907946 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 42153468 | synonymous variant | A/C;G;T | snv | 6.4E-05; 0.21; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 12 | 6355415 | missense variant | C/T | snv | 7.9E-02 | 0.17 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 1 | 84506076 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
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 | 17 | 63477950 | missense variant | G/A;C | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 4 | 140563980 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 16 | 56902407 | missense variant | C/T | snv | 3.1E-02 | 3.5E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.040 | 1 | 78536904 | 3 prime UTR variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 102357669 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 84506286 | 5 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 16 | 67435802 | missense variant | G/A | snv | 2.0E-04 | 1.8E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.040 | 12 | 4378431 | intron variant | G/C | snv | 3.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 19 | 48636949 | missense variant | C/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 1 | 34795038 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 16 | 56870675 | missense variant | C/G | snv | 1.6E-05; 0.98 | 0.98 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.040 | 12 | 6845700 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 17 | 66792709 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 14 | 52327663 | 3 prime UTR variant | G/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 2 | 224471097 | 3 prime UTR variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 4 | 24797878 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 5 | 32714555 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 |