Nearest gene: DAB2IP
Most severe consequence: downstream gene variant
AF 1.3e-2(ranges from 1.3e-2 to 1.4e-2 across all phenotypes)
AF in gnomAD genomes 2.1: FIN 1.4e-2, POPMAX 5.8e-4, FIN enrichment vs. NFEE: No NFEE in gnomAD
INFO 0.964 (ranges in genotyping batches from 0.813 to 0.984 )
Number of alt homozygotes: 61
View in Open Targets , gnomAD , UCSC , GWAS Catalog , dbSNP
category | phenotype | beta (se) | p-value | -log10(p) | af cases | af controls | number of samples | UKBB | UKBB N samples |
---|---|---|---|---|---|---|---|---|---|
IV Endocrine, nutritional and metabolic diseases (E4_) | Amyloidosis, other/unspecified | 2.1 | 2.9e-39 | 38.5 | 1.2e-1 | 1.3e-2 | 299 / 269572 | NA | NA |
IV Endocrine, nutritional and metabolic diseases (E4_) | Amyloidosis | 2.0 | 2.2e-36 | 35.7 | 9.9e-2 | 1.3e-2 | 367 / 269572 | NA | NA |
VII Diseases of the eye and adnexa (H7_) | Hereditary corneal dystrophies | 1.0 | 2.3e-7 | 6.64 | 3.3e-2 | 1.3e-2 | 532 / 294514 | NA | NA |
VII Diseases of the eye and adnexa (H7_) | Other disorders of cornea | 0.45 | 4.3e-4 | 3.36 | 2.0e-2 | 1.3e-2 | 1853 / 294514 | NA | NA |
XIV Diseases of the genitourinary system (N14_) | Oligomenorrhoea | -0.90 | 1.6e-3 | 2.81 | 5.1e-3 | 1.3e-2 | 833 / 94394 | NA | NA |
XXI Factors influencing health status and contact with health services (Z21_) | Other problems related to primary support group, including family circumstances | 0.33 | 1.8e-3 | 2.73 | 1.8e-2 | 1.3e-2 | 2920 / 301545 | NA | NA |
XIII Diseases of the musculoskeletal system and connective tissue (M13_) | Achilles tendinitis | -0.43 | 3.3e-3 | 2.48 | 8.6e-3 | 1.3e-2 | 2415 / 227388 | NA | NA |
VII Diseases of the eye and adnexa (H7_) | Lagophthalmos | 0.86 | 4.2e-3 | 2.38 | 3.1e-2 | 1.3e-2 | 224 / 285029 | NA | NA |
VII Diseases of the eye and adnexa (H7_) | Keratitis | 0.18 | 4.6e-3 | 2.34 | 1.6e-2 | 1.3e-2 | 8645 / 294514 | NA | NA |
IV Endocrine, nutritional and metabolic diseases (E4_) | Autoimmune thyroiditis | -1.4 | 4.7e-3 | 2.33 | 2.0e-3 | 1.3e-2 | 366 / 263704 | NA | NA |