Table 3 Nonsynonymous variants... | American Society of Hematology

Table 3

Nonsynonymous variants replicated in 227 severe hemophilia A patients and showing a direction of association consistent with discovery phase

Gene	Chr.	dbSNP ID	Minor allele	Result	Protein effect	WES			Replication
Gene	Chr.	dbSNP ID	Minor allele	Result	Protein effect	MAF inhibitor	MAF noninhibitor	OR (95% CI)	MAF inhibitor	MAF noninhibitor	OR (95% CI)	P value* (all patients)	P value† (unrelated patients)
LCT	2	rs3754689	T	Missense	V/I	0.32	0.44	0.60 (0.2-1.9)	0.26	0.38	0.58 (0.36-0.94)	.028	.028
TRIM42	3	rs9876490	C	Missense	A/E	0.29	0.44	0.52 (0.16-1.7)	0.38	0.44	0.79 (0.51-1.23)	.30	.13
RREB1	6	rs1334576	A	Missense	G/R	0.24	0.44	0.38 (0.1-1.3)	0.29	0.33	0.81 (0.51-1.3)	.38	.19
PLEKHA1	10	rs1045216	A	Missense	T/A	0.32	0.61	0.30 (0.09-1)	0.31	0.40	0.67 (0.42-1.1)	.081	.12
ALG10B	12	rs6582584	C	Missense	A/G	0.02	0.19	0.06 (0.003-1.3)	0.01	0.03	0.34 (0.04-2.8)	.32	.50
APOBEC1	12	rs2302515	C	Missense	M/I	0.03	0.22	0.10 (0.01-1)	0.05	0.07	0.63 (0.25-1.6)	.34	.49
KLRB1	12	rs1135816	G	Missense	I/T	0.53	0.28	2.90 (0.9-10)	0.46	0.43	1.12 (0.73-1.7)	.60	.60
PSMD9	12	rs2230681	T	Missense	V/A	0.03	0.33	0.06 (0.01-0.56)	0.08	0.15	0.47 (0.21-1.02)	.056	.14
ANKRD62	18	rs4519391	G	Missense	E/K	0.18	0.39	0.34 (0.09-1.23)	0.30	0.35	0.78 (0.49-1.27)	.33	.18
SLC14A2	18	rs3745009	A	Missense	A/T	0.32	0.72	0.18 (0.05-0.65)	0.38	0.47	0.68 (0.44-1.06)	.087	.047

Gene	Chr.	dbSNP ID	Minor allele	Result	Protein effect	WES			Replication
Gene	Chr.	dbSNP ID	Minor allele	Result	Protein effect	MAF inhibitor	MAF noninhibitor	OR (95% CI)	MAF inhibitor	MAF noninhibitor	OR (95% CI)	P value* (all patients)	P value† (unrelated patients)
LCT	2	rs3754689	T	Missense	V/I	0.32	0.44	0.60 (0.2-1.9)	0.26	0.38	0.58 (0.36-0.94)	.028	.028
TRIM42	3	rs9876490	C	Missense	A/E	0.29	0.44	0.52 (0.16-1.7)	0.38	0.44	0.79 (0.51-1.23)	.30	.13
RREB1	6	rs1334576	A	Missense	G/R	0.24	0.44	0.38 (0.1-1.3)	0.29	0.33	0.81 (0.51-1.3)	.38	.19
PLEKHA1	10	rs1045216	A	Missense	T/A	0.32	0.61	0.30 (0.09-1)	0.31	0.40	0.67 (0.42-1.1)	.081	.12
ALG10B	12	rs6582584	C	Missense	A/G	0.02	0.19	0.06 (0.003-1.3)	0.01	0.03	0.34 (0.04-2.8)	.32	.50
APOBEC1	12	rs2302515	C	Missense	M/I	0.03	0.22	0.10 (0.01-1)	0.05	0.07	0.63 (0.25-1.6)	.34	.49
KLRB1	12	rs1135816	G	Missense	I/T	0.53	0.28	2.90 (0.9-10)	0.46	0.43	1.12 (0.73-1.7)	.60	.60
PSMD9	12	rs2230681	T	Missense	V/A	0.03	0.33	0.06 (0.01-0.56)	0.08	0.15	0.47 (0.21-1.02)	.056	.14
ANKRD62	18	rs4519391	G	Missense	E/K	0.18	0.39	0.34 (0.09-1.23)	0.30	0.35	0.78 (0.49-1.27)	.33	.18
SLC14A2	18	rs3745009	A	Missense	A/T	0.32	0.72	0.18 (0.05-0.65)	0.38	0.47	0.68 (0.44-1.06)	.087	.047

Logistic regression analysis adjusting for first-degree relatives was used in replication.

Chr., chromosome.

P value from all 227 patients (n = 53 with and n = 174 without inhibitors).

P value from 185 unrelated patients (n = 47 with and n = 138 without inhibitors).