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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 17 | 10989753 | intergenic variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 156186998 | intergenic variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156187160 | downstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156188576 | downstream gene variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156189426 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156189741 | upstream gene variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156190567 | upstream gene variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156190905 | upstream gene variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156191101 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156192768 | upstream gene variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156195094 | intron variant | C/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156195499 | intron variant | T/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156195526 | intron variant | G/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156195551 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156198945 | non coding transcript exon variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 1.000 | 0.120 | 1 | 156199819 | non coding transcript exon variant | A/G | snv | 0.34 | 0.43 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.040 | 1 | 156201505 | intron variant | C/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1 | 156202334 | intron variant | T/C;G | snv | 0.43 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156203894 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156204684 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156211216 | 3 prime UTR variant | C/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.040 | 1 | 156211979 | 3 prime UTR variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 1 | 156212919 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1 | 156214477 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156214667 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 |