NRG1 variant effects in patients with Hirschsprung disease

BMC Pediatrics

Table 3 NRG1 variants frequency in Indonesian HSCR and population databases

Variant	HSCR patients	Indonesian control	1000 Genomes^μ	ExAC^μ	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

*, a p-value of < 0.05 was considered significant; ^μ, East Asian ancestries; HSCR, Hirschsprung disease; N/A, not available

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