Association between single nucleotide polymorphisms, TGF-β1 promoter methylation, and polycystic ovary syndrome

Table 6 List of SNP candidate susceptibility genes screened out

Variation Type		Position^a	ID	REF^b	ALT^c	GnomAD ALL AF^d	AA Change^e	cytoband^f
SNV	DGAT1	chr8:144318530	rs144065666	C	T	0.00017943	NM_012079:exon6:c.G505A:p.V169M	8q24.3
SNV	EHMT1	chr9:137777959	rs141689686	C	T	0.00001804	NM_001145527:exon13:c.C2096T:p.T699M	9q34.3
SNV	KDR	chr4:55115364	rs35636987	C	T	0.00068263	NM_002253:exon4:c.G406A:p.V136M	4q12
SNV	LAMTOR1	chr11:72098308	rs146341570	G	A	0.00043963	NM_017907:exon4:c.C374T:p.P125L	11q13.4
SNV	SEC13	chr3:10305050	rs191151688	T	C	0.00001625	NM_001136232:exon7:c.A649G:p.I217V	3p25.3
SNV	SETD2	chr3:47124067	rs563907746	G	A	0.00011469	NM_001349370:exon2:c.C437T:p.P146L	3p21.31
SNV	TGF-β1	chr5:136055770	rs121909212	C	A	0.00029683	NM_000358:exon11:c.C1501A:p.P501T	5q31.1

^a The absolute chromosomal position of a locus of variation. ^b Reference genome base type. ^c Sample genome base type. ^d Allele frequencies of the mutated base at this variant locus in all populations. ^e. Amino acid change. ^f. The chromosomal segment on which the mutation occurs

ISSN: 1471-2393