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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 7 | 140753345 | missense variant | AG/GA | mnv | 0.710 | 1.000 | 13 | 2002 | 2018 | |||||
|
2 | 0.925 | 0.040 | 15 | 66436816 | missense variant | G/C | snv | 0.720 | 1.000 | 5 | 2011 | 2014 | |||||
|
1 | 1.000 | 0.040 | 21 | 41374154 | intron variant | C/T | snv | 0.48 | 0.820 | 1.000 | 4 | 2011 | 2019 | ||||
|
2 | 1.000 | 0.040 | 4 | 54728096 | missense variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2011 | 2014 | |||||
|
1 | 1.000 | 0.040 | 15 | 66481793 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2009 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 114716109 | missense variant | C/G;T | snv | 4.0E-06 | 0.710 | 1.000 | 3 | 2001 | 2014 | ||||
|
2 | 1.000 | 0.040 | 20 | 34767243 | intron variant | G/A | snv | 0.93 | 0.720 | 1.000 | 3 | 2008 | 2014 | ||||
|
4 | 0.925 | 0.040 | 19 | 7909761 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2005 | 2015 | |||||
|
1 | 1.000 | 0.040 | 4 | 54727418 | missense variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 4 | 54727464 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 4 | 54727474 | missense variant | T/G | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 15 | 66436786 | missense variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
1 | 1.000 | 0.040 | 15 | 66485086 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
3 | 1.000 | 0.040 | 15 | 66436839 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2009 | 2013 | |||||
|
1 | 1.000 | 0.040 | 19 | 4110586 | missense variant | A/T | snv | 0.710 | 1.000 | 2 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 19 | 4117543 | missense variant | T/G | snv | 0.710 | 1.000 | 2 | 2013 | 2014 | |||||
|
2 | 0.925 | 0.040 | 15 | 66436815 | missense variant | T/A | snv | 0.020 | 1.000 | 2 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 16 | 89919683 | missense variant | G/A | snv | 5.3E-03 | 4.7E-03 | 0.020 | 1.000 | 2 | 2006 | 2011 | |||
|
1 | 1.000 | 0.040 | 3 | 53284850 | 3 prime UTR variant | C/A | snv | 0.16 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 140753361 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2014 | 2015 | |||||
|
3 | 1.000 | 0.040 | 7 | 140781678 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2014 | ||||
|
2 | 0.925 | 0.040 | 9 | 21971121 | stop gained | G/A;C | snv | 4.4E-06 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
|
2 | 1.000 | 0.040 | 4 | 54728092 | missense variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
1 | 1.000 | 0.040 | 4 | 147542604 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 21757804 | intergenic variant | T/G | snv | 0.32 | 0.710 | 1.000 | 2 | 2012 | 2015 |