From: Oligogenic basis of premature ovarian insufficiency: an observational study
Sample ID | Gene | Alleles | VarCoPP | Digenic Effect | |||||
---|---|---|---|---|---|---|---|---|---|
Prediction score | Predicted class | Confidence zone | True digenic | Monogenic + modifier | Dual molecular diagnosis | Predicted class | |||
64 | RAD52 | NC_000012.11 (NM_134424.4) c.1037 C > A | 1.0 | Disease-causing | 99.9% | 0.42 | 0.35 | 0.23 | True digenic |
MSH6 | NC_000002.11 (NM_000179.3) c.4068_4071dupTTGA | ||||||||
66 | RAD52 | NC_000012.11 (NM_134424.4) c.1037 C > A | 1.0 | Disease-causing | 99.9% | 0.34 | 0.44 | 0.22 | Monogenic + modifier |
MSH6 | NC_000002.11 (NM_000179.3) c.3488 A > T |