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. 2022 Mar 11;37(5):1069–1082. doi: 10.1093/humrep/deac028

Table II.

Loci significantly associated (P < 5 × 10−8) with inverse normally transformed AMH in women.

Nearest gene SNP Chr Pos EA OA EAF n Imputation quality Effect (SE) P Direction P het Percentage of variance in AMH explained
AMH rs10417628 19 2 251 817 T C 0.02 7049 0.83 −0.34 (0.05) 1.2 × 10−11 −−−−− 0.14 0.50%
TEX41 rs13009019 2 145 670 572 A G 0.69 7049 0.95 −0.09 (0.01) 7.2 × 10−10 −−−−− 0.24 0.35%
MCM8 rs16991615 20 5 948 227 A G 0.07 7049 0.99 0.16 (0.03) 1.2 × 10−8 ++−++ 0.0009 0.30%
CDCA7 rs11683493 2 174 259 325 T C 0.57 7049 0.97 −0.08 (0.01) 1.7 × 10−8 −−−−− 0.03 0.32%

Definition of columns: nearest gene, nearest gene identified using DEPICT tool (Subjects and Methods); SNP, genetic variant identified as lead SNP; Chr, chromosome; Pos, base pair position genomic build GRCh37; EA, effect allele; OA, other allele; EAF, effect allele frequency; n, number of samples contributing to estimate; imputation quality, mean imputation quality over the included studies; effect (SE); effect size and corresponding standard error; P, P-value; Direction, direction of effect for previous GWAS, ALSPAC mothers, ALSPAC daughters, Doetinchem Cohort Study and SWAN, respectively; Phet, P-value for heterogeneity of effect across studies; AMH, anti-Müllerian hormone; SWAN, Study of Women’s Health Across the Nation.