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 | 2 | 219069626 | non coding transcript exon variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 3 | 134514250 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
3 | 1.000 | 0.040 | 6 | 17699091 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1 | 227610249 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 6 | 126514509 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
2 | 4 | 144728869 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 4 | 54368658 | regulatory region variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
10 | 0.851 | 0.200 | 6 | 32082290 | missense variant | T/A;C;G | snv | 8.2E-06; 0.58; 4.1E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 7 | 92627591 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 15 | 83647132 | intergenic variant | C/T | snv | 0.85 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 15 | 83617740 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 7 | 158932098 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
2 | 9 | 88196267 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
3 | 1.000 | 0.040 | 6 | 34651116 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 6 | 104970103 | intron variant | G/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
6 | 0.925 | 0.080 | 6 | 104959787 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 15 | 100246066 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
3 | 6 | 126645162 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
2 | 6 | 35435008 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
3 | 1.000 | 0.080 | 9 | 106870072 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 1.000 | 0.160 | 17 | 56772968 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 15 | 89358801 | upstream gene variant | A/C;T | snv | 0.54 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 20 | 35321981 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 1 | 41065199 | intron variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 2 | 219079124 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2008 | 2008 |