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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 10 | 70868394 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
0.800 | 1.000 | 4 | 2017 | 2018 | |||||||||
|
1.000 | 10 | 70868393 | missense variant | C/T | snv | 4.0E-06 |
|
0.800 | 0 | ||||||||||||
|
10 | 70855139 | intron variant | A/C | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 70871480 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
10 | 70871480 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 10 | 70871858 | frameshift variant | C/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 10 | 70877259 | inframe deletion | CTT/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 10 | 70851211 | splice donor variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 10 | 70816859 | frameshift variant | -/A | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 10 | 70871964 | missense variant | G/T | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 10 | 70871945 | missense variant | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 10 | 70844532 | frameshift variant | T/- | del |
|
0.700 | 0 | |||||||||||||
|
1.000 | 10 | 70876608 | stop gained | C/G;T | snv | 8.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 10 | 70873538 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 10 | 70871945 | missense variant | C/T | snv | 8.0E-06 |
|
Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 10 | 70871945 | missense variant | C/T | snv | 8.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |