Table 1 Characterization of significant... | American Society of Hematology

Table 1

Characterization of significant SNVs

Gene	Chromosome	SNV*	Allele	Mutation	ET†	1000 Genome				Matched validation cohort
Gene	Chromosome	SNV*	Allele	Mutation	ET†	Control†	P value	OR	95% CI	Control†	P value	OR	95% CI
BLVRB	19q13.1-q13.2	rs149698066	G/A	S111L	0.042	0.0014	.0006	31.7	[6.3,159.7]	0.0048	.02	9.0	[1.5, 54.8]
KTN1	14q22.1	rs137964512	A/G	T232A	0.045	0.0027	.0018	17.3	[4.2, 70.8]	0.0072	.04	6.6	[1.3, 33.2]
TM7SF3	12q11-q12	rs10771314	G/A	P248L	0.156	0.0594	.0052	2.9	[1.5, 5.9]	0.1202	.42	1.4	[0.7, 2.8]
QSOX	1q24	rs17855475	G/C	G200A	0.171	0.0955	.062	2.0	[0.9, 3.8]	0.1322	.35	1.4	[0.7 2.7]
FAM40B	7q32.1	rs61746947	T/A	V629D	0.047	0.0160	.091	3.0	[0.9, 10.1]	0.0433	.75	1.1	[0.3, 3.8]

Gene	Chromosome	SNV*	Allele	Mutation	ET†	1000 Genome				Matched validation cohort
Gene	Chromosome	SNV*	Allele	Mutation	ET†	Control†	P value	OR	95% CI	Control†	P value	OR	95% CI
BLVRB	19q13.1-q13.2	rs149698066	G/A	S111L	0.042	0.0014	.0006	31.7	[6.3,159.7]	0.0048	.02	9.0	[1.5, 54.8]
KTN1	14q22.1	rs137964512	A/G	T232A	0.045	0.0027	.0018	17.3	[4.2, 70.8]	0.0072	.04	6.6	[1.3, 33.2]
TM7SF3	12q11-q12	rs10771314	G/A	P248L	0.156	0.0594	.0052	2.9	[1.5, 5.9]	0.1202	.42	1.4	[0.7, 2.8]
QSOX	1q24	rs17855475	G/C	G200A	0.171	0.0955	.062	2.0	[0.9, 3.8]	0.1322	.35	1.4	[0.7 2.7]
FAM40B	7q32.1	rs61746947	T/A	V629D	0.047	0.0160	.091	3.0	[0.9, 10.1]	0.0433	.75	1.1	[0.3, 3.8]

From www.ncbi.nlm.nih.gov/SNP.

Minor allelic frequency.