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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||
|
10 | 9 | 133268030 | intron variant | G/A | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||||
|
15 | 1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv | 0.800 | 1.000 | 2 | 2013 | 2019 | |||||
|
18 | 0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2010 | 2013 | |||||
|
8 | 9 | 133266942 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
7 | 1.000 | 0.040 | 9 | 133256028 | missense variant | C/T | snv | 0.12 | 0.11 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 9 | 133252613 | non coding transcript exon variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 133270005 | intron variant | A/-;AA;AAA;AAAAAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 9 | 133257320 | intron variant | A/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 9 | 133261730 | intron variant | G/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 9 | 133264214 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 9 | 133273232 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
10 | 0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 9 | 133258352 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 9 | 133258643 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
13 | 0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 9 | 133267960 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 9 | 133259656 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 9 | 133259791 | intron variant | C/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 9 | 133259834 | missense variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 9 | 133276029 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 9 | 133260255 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 9 | 133260793 | intron variant | T/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 9 | 133260839 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 9 | 133260074 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 |