Fig. 5: Genome-wide and Phenome-wide association study.

a Genome-wide and Phenome-wide scan in the MGBB. We conducted association analysis between common genetic variants (Minor allele counts ≥40) and 1483 PheCodes (Case counts ≥60). The columns represent the number of significant associations (P < 3.37 × 10⁻¹¹) on each chromosome. We annotated chromosomes with the representative locus in the chromosome. The exact P-values are listed in Supplementary Table 7. b Manhattan plot of GWAS for Rhesus isoimmunization during pregnancy in women (n = 29,159). The horizontal axis displays the genomic coordinates from chromosome 1 to chromosome X. The vertical axis represents the strength of association in negative log₁₀ P-value. The significantly associated variants in the RHD locus are highlighted. The P-values for the imputed genotype dosage were calculated using the logistic regression model implemented in the REGENIE software. c Odds ratio for Rhesus isoimmunization during pregnancy by rs55794721 genotypes. The dots and error bars represent the estimated odds ratios and 95% confidence intervals compared to the reference homozygotes ([C/C]). d RHD read counts from Whole Blood RNA sequence data obtained from the GTEx dataset. The horizontal axis displays the number of reads aligned to the RHD gene, categorized by rs55794721 genotypes. e Frequencies of rs55794721 homozygotes across genetic clusters in MGBB. The horizontal axis corresponds to the genetically similar groups in MGBB, while the vertical axis represents the group wise frequency of rs55794721 homozygotes ([G/G]). MGBB Mass General Brigham Biobank, ACMG American College of Medical Genetics and Genomics, AFR African-like, AMR Admixed-American-like, EAS East-Asian-like, EUR European-like, SAS South-Asian-like, GWAS Genome-Wide Association Study, GTEx Genotype-Tissue Expression.