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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.800 | 1.000 | 5 | 2010 | 2018 | |||
|
5 | 19 | 49496752 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 7 | 73626484 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 2 | 2012 | 2018 | |||||||
|
10 | 0.827 | 0.160 | 2 | 27520287 | intron variant | A/G | snv | 0.18 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 17 | 1715069 | intron variant | T/C | snv | 0.19 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 19 | 35068570 | intron variant | T/C | snv | 0.11 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
18 | 0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 15 | 43927409 | intron variant | G/A | snv | 9.5E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 47419207 | intron variant | G/A | snv | 0.35 | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 19 | 35064286 | intron variant | T/C | snv | 0.85 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 18 | 62458879 | regulatory region variant | T/C | snv | 0.53 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
17 | 0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2008 | 2013 | |||||
|
8 | 1.000 | 0.040 | 15 | 58382496 | intron variant | G/C | snv | 0.24 | 0.700 | 1.000 | 3 | 2008 | 2013 | ||||
|
18 | 0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
12 | 0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
2 | 11 | 61779765 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
24 | 0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
2 | 11 | 61872907 | downstream gene variant | G/A | snv | 0.54 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
5 | 1.000 | 0.080 | 11 | 61888645 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||
|
5 | 1.000 | 0.080 | 11 | 61776027 | intron variant | T/C | snv | 0.42 | 0.42 | 0.700 | 1.000 | 2 | 2012 | 2013 | |||
|
3 | 1.000 | 0.080 | 11 | 61781986 | non coding transcript exon variant | A/G | snv | 0.28 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
19 | 0.776 | 0.280 | 11 | 61783884 | missense variant | T/A;C;G | snv | 0.38 | 0.32 | 0.700 | 1.000 | 2 | 2012 | 2013 | |||
|
3 | 11 | 61784455 | non coding transcript exon variant | A/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
23 | 0.708 | 0.400 | 11 | 61785208 | non coding transcript exon variant | G/T | snv | 0.28 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
21 | 0.701 | 0.440 | 11 | 61792609 | 5 prime UTR variant | G/A | snv | 0.34 | 0.26 | 0.700 | 1.000 | 2 | 2012 | 2013 |