Table 3.

Influence of common SNPs on the presence of HSCR in GOSHS

		RET	RET	RET	RET	RET	NRG1	NRG1	SEMA3A
#	HSCR	rs2506030	rs7069590	rs2505998	rs2435357	rs9282834	rs1176600	rs8022714	rs7005606
1	No	G/G	T/C	A/G	A/G	G/G	A/A	C/C	G/T
2	No	G/G	T/C	A/G	A/G	G/G	A/A	C/C	T/T
3	No	G/G	T/C	A/G	A/G	G/G	A/A	C/C	T/T
4	No	G/A	C/C	G/G	G/G	G/G	A/C	C/C	G/T
5	No	G/G	T/T	A/G	A/G	G/G	A/A	C/C	G/T
6	No	G/A	T/C	G/G	G/G	G/G	A/A	C/C	T/T
7	No	G/A	T/T	A/A	A/A	G/G	A/A	C/C	T/T
8	No	A/A	T/C	G/G	G/G	G/G	A/C	C/C	G/T
9	No	A/A	T/T	G/G	G/G	G/G	A/A	C/C	G/T
10	No	G/A	T/T	G/G	G/G	G/G	A/A	C/C	G/T
11	No	G/A	T/T	G/G	G/G	G/G	A/A	C/C	T/T
12	No	G/A	T/T	G/G	G/G	G/G	A/A	C/C	T/T
13	No	A/A	T/T	A/A	A/A	G/G	A/A	C/C	T/T
14	No	A/A	T/C	A/G	A/G	G/G	C/C	C/C	T/T
15	Yes	G/G	T/C	A/G	A/G	G/G	A/A	C/C	G/T
16	Yes	G/G	T/C	A/G	A/G	G/G	A/A	C/C	G/T
17	Yes	G/G	T/C	A/G	A/G	G/G	A/A	C/C	T/T
18	Yes	G/G	T/C	A/G	A/G	G/G	A/A	C/C	G/T
19	Yes	G/A	T/C	A/G	A/G	G/G	A/A	C/C	G/G
20	Yes	G/A	T/C	G/G	G/G	G/G	A/C	C/C	G/T
21	Yes	G/A	T/C	A/G	A/G	G/G	A/A	C/C	G/T
22	Yes	G/A	T/C	A/G	A/G	G/G	A/A	C/C	T/T
23	Yes	A/A	T/T	G/G	G/G	G/G	A/A	C/C	T/T
24	Yes	G/A	T/C	G/G	G/G	G/G	A/A	C/C	T/T
25	Yes	G/A	T/T	G/G	G/G	G/G	A/A	C/C	G/G
26	Yes	A/G	T/C	A/G	A/G	G/G	‐	‐	‐

Note: Samples are anonymized. Samples 1–14 are unaffected parents. Samples 15–26 are patients with GOSHS with HSCR. Sample 26 was excluded from statistical analysis as data was not available for all SNPs.

Abbreviations: GOSHS, Goldberg–Shprintzen syndrome; HSCR, Hirschsprung disease; SNPs, single nucleotide polymorphisms.