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 | 16 | 50710966 | missense variant | A/G | snv | 9.6E-04 | 3.8E-03 | 0.710 | 1.000 | 7 | 2001 | 2018 | |||
|
1 | 1.000 | 0.040 | 16 | 50699883 | missense variant | T/C | snv | 1.3E-04 | 5.6E-05 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710614 | missense variant | C/T | snv | 1.0E-04 | 1.3E-04 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710654 | missense variant | T/G | snv | 5.6E-04 | 2.6E-04 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710782 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710792 | missense variant | C/G | snv | 1.9E-03 | 1.5E-03 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710813 | missense variant | C/T | snv | 4.4E-05 | 4.2E-05 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710842 | missense variant | C/A;T | snv | 5.9E-04 | 0.700 | 1.000 | 6 | 2001 | 2016 | ||||
|
1 | 1.000 | 0.040 | 16 | 50711028 | missense variant | C/T | snv | 1.8E-04 | 2.1E-04 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50711206 | missense variant | C/T | snv | 1.6E-04 | 2.3E-04 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50711961 | missense variant | C/G;T | snv | 4.1E-04 | 0.700 | 1.000 | 6 | 2001 | 2016 | ||||
|
1 | 1.000 | 0.040 | 16 | 50712175 | missense variant | C/T | snv | 2.5E-03 | 3.0E-03 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 1 | 206772393 | missense variant | C/T | snv | 1.9E-03 | 1.8E-03 | 0.030 | 0.667 | 3 | 2000 | 2005 | |||
|
1 | 1.000 | 0.040 | 2 | 233250193 | intron variant | C/A;T | snv | 0.810 | 1.000 | 2 | 2007 | 2010 | |||||
|
1 | 1.000 | 0.040 | 12 | 131914520 | intron variant | T/G | snv | 0.30 | 0.26 | 0.020 | 1.000 | 2 | 2011 | 2017 | |||
|
1 | 1.000 | 0.040 | 6 | 3433084 | intron variant | T/G | snv | 0.30 | 0.800 | 1.000 | 2 | 2008 | 2010 | ||||
|
1 | 1.000 | 0.040 | 16 | 50713793 | intron variant | C/T | snv | 0.20 | 0.710 | 1.000 | 2 | 2007 | 2014 | ||||
|
1 | 1.000 | 0.040 | 21 | 15440233 | intron variant | C/A | snv | 0.33 | 0.800 | 1.000 | 2 | 2008 | 2010 | ||||
|
1 | 1.000 | 0.040 | 12 | 40364850 | missense variant | T/C | snv | 0.62 | 0.62 | 0.020 | 1.000 | 2 | 2013 | 2016 | |||
|
1 | 1.000 | 0.040 | 2 | 233275771 | non coding transcript exon variant | G/A | snv | 0.45 | 0.42 | 0.800 | 1.000 | 2 | 2010 | 2013 | |||
|
1 | 1.000 | 0.040 | 5 | 73255307 | intron variant | A/G | snv | 0.42 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 127134977 | intron variant | A/G | snv | 0.41 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.040 | 5 | 40386453 | regulatory region variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 9 | 114789323 | 3 prime UTR variant | T/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 2 | 60997124 | intron variant | C/T | snv | 0.41 | 0.800 | 1.000 | 1 | 2010 | 2010 |