From: NRG1 variant effects in patients with Hirschsprung disease
Variant | HSCR patients | Indonesian control | 1000 Genomesμ | ExACμ | p-value | |
---|---|---|---|---|---|---|
vs. 1000 Genomes | vs. ExAC | |||||
c.397G > C (p.V133 L) | 0.009 | 0 | 0 | 0.0007 | < 0.0001 | < 0.0001 |
rs7834206 | 0.30 | 0.19 | 0.18 | N/A | < 0.0001 | N/A |
rs3735774 | 0.07 | 0.09 | 0.09 | 0.07 | 1 | 1 |
rs75155858 | 0.35 | 0.35 | 0.35 | 0.35 | 1 | 1 |