KLKB1, kallikrein B1, 3818
N. diseases: 88; N. variants: 63
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 186236096 | intron variant | AG/- | delins | 0.57 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 186218653 | intron variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 186239240 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 186235350 | intron variant | -/CCTAACTTCATCACCTT;CTAACTTCATCACCTT;TCTAACTT;TCTAACTTCATCACCTT;TTCTAACTTCATCACCTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 186236114 | intron variant | AAAAAA/-;AA;AAA;AAAA;AAAAA;AAAAAAA;AAAAAAAA | delins | 0.47 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 186229652 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 186248013 | intron variant | C/T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 186252648 | intron variant | AATCCCACCACC/-;AATCCCACCACCAATCCCACCACC | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 186220858 | intron variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 186229324 | intron variant | A/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 186232632 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 186235986 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 186243245 | intron variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 186252537 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 186253529 | intron variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 186239894 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |