SCAPER, S-phase cyclin A associated protein in the ER, 49855
N. diseases: 56; N. variants: 36
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 76607515 | intron variant | G/T | snv | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 76607515 | intron variant | G/T | snv | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.851 | 0.160 | 15 | 76471314 | frameshift variant | ATTG/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.160 | 15 | 76574190 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.160 | 15 | 76574190 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.160 | 15 | 76574190 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
15 | 76509834 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 76523372 | intron variant | T/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 76525447 | intron variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.851 | 0.200 | 15 | 76702873 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 15 | 76702873 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 15 | 76381427 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.800 | 0 | ||||||||||
|
0.882 | 0.160 | 15 | 76381427 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 15 | 76753813 | inframe deletion | CTT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 15 | 76753813 | inframe deletion | CTT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 15 | 76471314 | frameshift variant | ATTG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 15 | 76728739 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 15 | 76728739 | splice acceptor variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 15 | 76574190 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
15 | 76533662 | intron variant | G/A | snv | 0.56 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.200 | 15 | 76702873 | stop gained | G/A | snv | 7.0E-06 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 15 | 76471314 | frameshift variant | ATTG/- | delins |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 15 | 76730995 | intron variant | C/T | snv | 0.31 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 15 | 76704160 | intron variant | T/A | snv | 9.4E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 15 | 76792643 | intron variant | G/A | snv | 0.26 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 |