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Table 5 Conservation scores of NRG1 variants

From: NRG1 variant effects in patients with Hirschsprung disease

Variant GERP PhyloP placental PhyloP vertebrate SiPhy
c.397G > C (p.V133 L) 4.26 (deleterious) 1.55 (non-deleterious) 1.799 (deleterious) 10.121 (non-deleterious)
rs7834206 0 0 0 0
rs3735774 5.15 2.894 0.784 9.461
rs75155858 4.71 1.321 3.472 10.265
Conservation scores interpretation:
Method Deleterious cutoff
GERP > 2
PhyloP > 1.6
SiPhy > 12.17