查询RS号: | rs7412 |
基因: | APOE |
染色体位置: | chr19-45412079 |
野生/突变碱基: | C/T |
遗传方式: | unknown |
突变类型: | 非同义突变 |
Exac东亚人突变频率: | 0.0813 |
RS位点疾病注释: | 高脂蛋白血症III(APOE2 ISOFORMS|Familial type 3 hyperlipoproteinemia|Apolipoproteinemia E1|Familial type 3 hyperlipoproteinemia|Familial type 3 hyperlipoproteinemia) |
基因疾病注释: | 阿尔茨海默病、高脂血症、心肌梗死易感性(Alzheimer disease-2, 104310 (3), Autosomal dominant; Hyperlipoproteinemia, type III (3); Lipoprotein glomerulopathy, 611771 (3); {?Macular degeneration, age-related}, 603075 (3), Autosomal dominant; {Myocardial infarction susceptibility} (3); Sea-blue histiocyte disease, 269600 (3), Autosomal recessive) |