Table 3 Ranked Variants for DBA sample
From: VarRanker: rapid prioritization of sequence variations associated with human disease
Variant | Functional Damage score | Relevance Score | Overall score |
|---|---|---|---|
GATA1 (p.V74L) | 15 | 99.28 | 1489.30 |
ICAM1 (p.G241R) | 24.24 | 45.58 | 1105.33 |
FCGR2A (p.Q62X) | 20 | 42.02 | 840.43 |
ERCC4 (p.R415Q) | 17.87 | 46.83 | 836.96 |
GYPA (p.E13A) | 15 | 54.09 | 811.46 |