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 | 1.000 | 0.040 | 9 | 22054041 | intron variant | C/T | snv | 0.72 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 9 | 22087474 | non coding transcript exon variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 9 | 22105928 | intron variant | T/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 1 | 230160042 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 2 | 64980940 | intron variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
18 | 0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 16 | 72722202 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 1.000 | 0.120 | 1 | 62485187 | 3 prime UTR variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 17 | 4779740 | intron variant | G/C | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 72779634 | regulatory region variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.040 | 14 | 94378506 | missense variant | T/G | snv | 0.28 | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 1.000 | 0.080 | 4 | 88305270 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
13 | 0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 4 | 74006728 | intron variant | A/G | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 15 | 58179780 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
11 | 0.882 | 0.080 | 16 | 56954132 | intergenic variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 4 | 71842104 | intergenic variant | G/A | snv | 0.93 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 4 | 186228386 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 55492357 | intron variant | C/T | snv | 4.4E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 74357994 | intergenic variant | A/G | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 16 | 72080103 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 59195731 | intron variant | C/G | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 12 | 56469986 | 3 prime UTR variant | G/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 |