Skip to main content

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