| 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 | 3 | 122426623 | 3 prime UTR variant | C/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.040 | 3 | 122536861 | non coding transcript exon variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 3 | 122548699 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122560202 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 5 | 23301799 | downstream gene variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 6 | 156807123 | intron variant | G/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 3 | 122414118 | 3 prime UTR variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 13 | 41984940 | downstream gene variant | G/A | snv | 0.17 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 3 | 122361900 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122298661 | regulatory region variant | C/G;T | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122405001 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 4586857 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 3 | 122369259 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122370512 | intron variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122388388 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 12 | 89702020 | intron variant | T/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 11 | 3007859 | non coding transcript exon variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 3 | 122289706 | 3 prime UTR variant | C/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122292504 | downstream gene variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122292516 | downstream gene variant | C/A;T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122293879 | downstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 3 | 122294507 | downstream gene variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122271410 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122259226 | intron variant | G/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122261437 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 |