Table 3.

Results of phenotype-specific meta-analysis of combined case-control groups

			Phenotypes
			Position		Laterality		Presentation
Marker	Position	Risk Allele	Proximal	Distal	Bilateral	Unilateral	Early	Late
			OR (95%CI) p value	OR (95%CI) p value	OR (95%CI) p value	OR (95%CI) p value	OR (95%CI) p value	OR (95%CI) p value
rs6687904	92025262	G	1.11 (0.84,1.37) 0.46	1.40 (1.20,1.61) 1.15E-03	1.26 (0.96,1.56) 0.13	1.35 (1.16,1.54) 2.16E-03	1.21 (0.98,1.45) 0.10	1.43 (1.21,1.65) 1.47E-03
rs11165059	92067953	A	1.03 (0.82,1.25) 0.78	1.32 (1.15,1.48) 9.42E-04	1.23(0.99,1.7) 0.09	1.19 (1.04,1.35) 2.30E-02	1.19 (1.01,1.38) 0.06	1.21 (1.04,1.38) 3.25E-02
rs17131560	92254485	G	1.59 (1.31,1.88) 9.00E-03	1.11 (0.86,1.35) 0.43	1.53 (1.16,1.90) 2.40E-02	1.14 (0.90,1.37) 0.29	1.51 (1.39,1.88) 1.37E-03	1.01 (0.74,1.28) 0.93
rs9661103	92335906	C	1.34 (1.15,1.53) 2.80E-03	1.14 (1.00,1.28) 0.07	1.16 (0.95,1.37) 0.17	1.25 (1.11,1.39) 1.29E-03	1.16 (1.00,1.33) 0.07	1.26 (1.11,1.42) 2.93E-03
rs17576372	92366174	T	1.42 (1.24,1.60) 1.67E-04	1.03 (0.90,1.17) 0.64	1.17 (0.97,1.37) 0.13	1.15 (1.02,1.28) 3.09E-02	1.13 (0.97,1.28) 0.13	1.17 (1.03,1.32) 3.03E-02
rs6656817	92411560	C	1.24 (0.88,1.61) 0.24	1.20 (0.93,1.47) 0.18	2.14 (1.74,2.54) 2.00E-04	1.01 (0.76,1.27) 0.92	1.31 (1.00,1.62) 0.08	1.11 (0.82,1.40) 0.48

Markers shown include top signals (shown in bold) identified in phenotype subgroups including proximal (testes positioned proximal to external inguinal ring), distal (testes positioned distal to external inguinal ring), bilateral vs. unilateral, and early (age ≤2 years) vs. late (age >2 years) at presentation. OR, odds ratio; CI, confidence interval.