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 | 8 | 57928349 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 8 | 57928365 | intron variant | C/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 11 | 10718819 | intergenic variant | C/G | snv | 0.59 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 13 | 101055958 | intron variant | G/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 11 | 98223945 | intergenic variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 11 | 98254676 | intergenic variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 6 | 100308811 | intergenic variant | C/T | snv | 0.20 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.851 | 0.040 | 8 | 32595840 | missense variant | G/A | snv | 0.40 | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 20 | 19870811 | intron variant | T/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.040 | 1 | 29959372 | intergenic variant | T/C | snv | 0.54 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 13 | 105999312 | intron variant | G/T | snv | 0.61 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 38329435 | intron variant | G/A | snv | 0.47 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 19871859 | non coding transcript exon variant | G/A | snv | 0.68 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 170445686 | intron variant | G/A | snv | 0.85 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.882 | 0.040 | 11 | 10369034 | intron variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | X | 145059799 | downstream gene variant | T/G | snv | 0.16 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 19 | 18357076 | intron variant | T/C | snv | 0.74 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 133257389 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 5 | 4720472 | intron variant | G/C | snv | 0.32 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.851 | 0.040 | 13 | 105489886 | synonymous variant | C/A;T | snv | 0.27; 4.0E-06 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 7 | 146254550 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
4 | 0.925 | 0.040 | 7 | 146262151 | intron variant | T/G | snv | 0.17 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 3 | 25070680 | intron variant | C/T | snv | 0.75 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.100 | 1.000 | 10 | 2011 | 2018 | |||||
|
11 | 0.763 | 0.240 | 14 | 104772855 | intron variant | T/C | snv | 0.50 | 0.47 | 0.050 | 0.800 | 5 | 2011 | 2019 |