Table 2.

Comparison of allele frequencies between male and female. Newly found variants are shown in red.

Exon	c.	p.	SNP ID	F	M	P value
5´-Flanking	4849 C>A		rs72553972	0,197	0,149	0,1165
5´-Flanking	4883 C>T		rs139824475	0,008	0,000	0,1184
5´-Flanking	4965 C>T			0,003	0,000	0,3680
5´-Flanking	4994 G>T			0,000	0,003	0,2659
Exon 1U	5036 A>C	−47 A>C	rs3823884	0,264	0,226	0,2618
Intron 1U	5099 C>T	−5 +21 C>T	rs72553978	0,003	0,014	0,1112
Exon 1	60 C>T	Ala20=		0,000	0,003	0,2659
Exon 1	85 A>T	Thr29Ser		0,003	0	0,3680
Exon 4	387 A>G	Pro129=	rs1135612	0,284	0,285	0,9774
Intron 4	517 −4 G>A		rs41299496	0,003	0	0,3680
Exon 9	984 C>T	Ala328=	rs72557941	0,003	0,021	0,0283
Intron 9	1067 −13C>G		rs4732516	0,989	0,979	0,3274
Exon 10	1112 G/A	Arg371His		0	0,003	0,2659
Exon 10	1151 C>T	Pro384Leu		0,003	0	0,3680
Exon 10	1194 G>A	Ser397=	rs72557928	0,003	0	0,3680
Exon 10	1200 G>A	Ser400=		0,003	0	0,3680
Intron 10	1248 +12C>T		rs2286822	0,346	0,344	0,9628
Intron 10	1248 +20G>A		rs2286823	0,343	0,344	0,9777
Exon 12	1455 T>C	Ala485=	rs2228104	0,983	0,979	0,7104
Exon 12	1508 C>T	Ala503Val	rs1057868	0,258	0,281	0,5159
Exon 12	1586 C>T	Thr529Met		0	0,003	0,2659
Exon 13	1716 G>A	Ser572=	rs1057870	0,362	0,323	0,2950
Exon 14	1891 G>A	Val631Ile	rs145782750	0	0,003	0,2659
Intron 14	1898 +13 G>T		rs72557956	0,003	0	0,3680
Intron 14	1899 −20 C>T			0	0,003	0,2659

c. - Coding position NM_000941.2

p. - Amino acid change position NP_000932.3

F – POR allele frequencies in female group

M – POR allele frequencies in male group