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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||
|
14 | 0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 4 | 168685769 | intron variant | T/C | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 4 | 153570903 | intron variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 4 | 44958427 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 5 | 34604531 | regulatory region variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 5 | 167802999 | intron variant | T/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 3 | 165771478 | intron variant | C/T | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 8 | 33215980 | regulatory region variant | A/G | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 8 | 113022302 | intron variant | C/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 11 | 33684620 | intron variant | A/G | snv | 4.2E-03 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 14 | 76678871 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 11 | 6644463 | intron variant | A/C | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 2 | 223088118 | intron variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 7 | 4068008 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 7 | 142491501 | upstream gene variant | A/T | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 19 | 17569292 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.200 | 6 | 32827255 | 3 prime UTR variant | G/A | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 7 | 127056727 | intron variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 2 | 50961428 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 16 | 6757689 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 9 | 84311392 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.120 | 1 | 147816164 | intergenic variant | G/A | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 |