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 | 4 | 120941346 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 2 | 12824371 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1 | 61914626 | missense variant | G/A;C | snv | 0.57; 8.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 6 | 119791894 | intergenic variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 11 | 27660049 | non coding transcript exon variant | C/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 105695979 | intron variant | G/A | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 34656128 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 5 | 37043527 | intron variant | AAA/-;A;AA;AAAA;AAAAA | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
5 | 16 | 53783406 | intron variant | G/A | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 9 | 3518833 | intron variant | T/C | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 14 | 30045906 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 16 | 82293200 | intergenic variant | G/A | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 12 | 49876581 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 5 | 180743819 | upstream gene variant | C/A;T | snv | 0.11 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 33775731 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 7 | 114789947 | regulatory region variant | G/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
8 | 18 | 60181790 | intergenic variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
13 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 2 | 655222 | regulatory region variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
17 | 0.827 | 0.200 | 20 | 35437976 | 5 prime UTR variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 18 | 60300038 | intron variant | AAG/- | delins | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 4 | 45163634 | intergenic variant | CTT/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 6 | 3865792 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 11 | 21580341 | downstream gene variant | AATT/- | delins | 7.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 |