rsID | Chr | Pos | Gene | Phenotype |
---|---|---|---|---|
rs2075650 | 19 | 45,395,619 | TOMM40 | Alzheimer Disease |
rs6859 | 19 | 45,382,034 | PVRL2 | Alzheimer Disease |
rs10445686 | 2 | 135,893,372 | RAB3GAP1 | Alzheimer Disease/Leiomyoma, Uterine |
rs11645986 | 16 | 25,127,645 | LCMT1 | Alzheimer Disease |
rs1920045 | 12 | 54,670,398 | HNRNPA1 | Amyotrophic lateral sclerosis/ inclusion body myopathy with Paget disease of bone and frontotemporal dementia |
rs7181139 | 15 | 77,977,667 | LINGO1 | Mental retardation / Essential tremor & Parkinson's |
rs3775162 | 4 | 72,397,710 | SLC4A4 | Proximal renal tubular acidosis with ocular abnormalities |
rs4076290 | 2 | 1,378,969 | TPO | Thyroid dyshormonogenesis |
rs1560964 | 15 | 33,766,809 | RYR3 | Epileptic encephalopathy |
rs1530498 | 5 | 13,902,220 | DNAH5 | Primary ciliary dyskinesia |
rs17576289 | 3 | 45,458,733 | LARS2 | Perrault syndrome |
rs17742907 | 22 | 18,890,615 | DGCR6 | Velocardiofacial syndrome |
rs2108392 | 5 | 130,533,828 | LYRM7 | Mitochondrial Complex iii Deficiency |
rs2432762 | 6 | 5,435,756 | FARS2 | Combined oxidative phosphorylation defect type 14 |
rs3785113 | 16 | 68,369,213 | PRMT7 | Pseudohypoparathyroidism-like disorder |
rs3888795 | 18 | 11,863,899 | GNAL | Dystonia |
rs991974 | 6 | 70,481,267 | LMBRD1 | Methylmalonic acidemia with homocystinuria |