1
328卢比[智人]- 变量类型:
- SNV公司
- 等位基因:
- C> A、G[展示侧翼]
- 染色体:
- 8:19962213(GRCh38)
8:19819724(GRCh37)
- 标准SPDI:
- NC_00008.11:19962212:C:A,NC_0000.8.11:19962212:C:G
- 基因:
- 低密度脂蛋白(Varview公司)
- 功能后果:
- 停止获得,编码序列变量
- 临床意义:
- 温和的
- 已验证:
- 按频率、按alfa、按簇
- 最大允许流量:
G=0.099621/11450(ALFA公司)G=0.066964/300(爱沙尼亚语)G=0.074074/16(卡塔尔)G=0.074684/59(PRJEB37584)G=0.07904/6220(第页_STUDY)G=0.085/51(瑞典北部)G=0.087925/23273(顶部)G=0.089338/12522(GnomAD)G=0.091711/104(达吉斯坦)G=0.092105/28(金融风险)G=0.092156/23148(GnomAD_exomes)G=0.093501/11340(ExAC)G=0.093535/468(1000个基因组)G=0.097561/32(HapMap)G=0.1/4(GENOME_DK)G=0.106642/411(ALSPAC)G=0.107875/400(TWINSUK公司)G=0.118236/118(荷兰政府)G=0.120819/354(韩国)G=0.127036/78(越南语)G=0.129344/2168(托莫)G=0.151685/81(管理层)G=0.196078/20(PRJEB36033)C=0.473684/36(SGDP_PRJ)C=0.5/3(西伯利亚语) - HGVS:
NC_ 000008.11:g.19962213C>A,NC_ 000008.11:g.19962213C>g,NC_ 000008.10:g.19819724C>A,NC_ 000008.10:g.19819724C>g,NG_008855.2:g.65497C>A,NG_008855.2:g.65497C>g,NM_000237.3:c.1421C>A,NM_000237.3:c.1421C>G,NM_000237.2:c.1421C>A,NM_000237.2:c.1421C>G,NP_000228.1:p.Ser474版本,NP_000228.1:p.Ser474版本