PLCE1, phospholipase C epsilon 1, 51196
N. diseases: 114; N. variants: 57
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 10 | 94270547 | missense variant | C/T | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 10 | 94132444 | stop gained | C/T | snv | 1.2E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 10 | 94254256 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 10 | 94283840 | stop gained | C/T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 94304583 | stop gained | C/T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 94322006 | stop gained | C/T | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 10 | 94032007 | stop gained | C/T | snv | 2.4E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 10 | 94259072 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 10 | 94032192 | frameshift variant | G/- | del |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 94262522 | frameshift variant | G/- | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 |