From: Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins
Mutation (rsID) | Ancestry | Category | Phecodes associated in the category, N | Expected phecodes associated in the category, N | Fold-Enrichment | P | FDR q |
---|---|---|---|---|---|---|---|
Ala81Thr (rs730881165) | EAS | Endocrine/Metabolic | 5 | 1 | 4.47 | 0.003 | 0.040 |
Neurological | 3 | 1 | 3.80 | 0.040 | 0.168 | ||
Pregnancy complications | 3 | 1 | 5.07 | 0.018 | 0.124 | ||
EUR | Circulatory system | 10 | 4 | 2.47 | 0.005 | 0.056 | |
Mental disorders | 5 | 2 | 2.89 | 0.026 | 0.124 | ||
Respiratory | 7 | 2 | 3.61 | 0.002 | 0.040 | ||
His90Asn (rs121918074) | CSA | Dermatologic | 2 | 0 | 28.00 | 0.001 | 0.040 |
EUR | Neoplasms | 8 | 3 | 3.09 | 0.003 | 0.040 | |
MID | Digestive | 8 | 4 | 2.15 | 0.021 | 0.124 | |
Mental disorders | 3 | 0 | 6.68 | 0.008 | 0.077 | ||
Symptoms | 3 | 1 | 4.45 | 0.025 | 0.124 | ||
Val122Ile (rs76992529) | AFR | Circulatory system | 9 | 3 | 2.96 | 0.002 | 0.040 |
Hematopoietic | 4 | 1 | 4.44 | 0.011 | 0.092 | ||
AMR | Neplasms | 2 | 0 | 7.78 | 0.020 | 0.124 | |
CSA | Genitourinary | 3 | 1 | 4.07 | 0.031 | 0.138 | |
MID | Genitourinary | 4 | 1 | 3.28 | 0.024 | 0.124 |