纯合片段分析
姓氏祖源
祖源平均脸
基因关系
基因保险助手
原始数据
中国的ESRRG基因
综合讨论组
将WEGENE的数据导入Promethease显示PKU，但在WEGENE显示无PKU即苯丙酮尿症
rs62642941(I;I)
Phenylketonuria In dbSNP, the variant/pathogenic allele for rs62642941 is the deletion allele. However, even though they use the same identifier, the (I;I) genotype as defined by 23andMe appears to be the homozygote minor genotype causative for phenylketonuria.
是不是从WEGENE导出数据后，再导入到Promethease出了问题？
还是两家对PKU解读不一样？
Phenylketonuria In dbSNP, the variant/pathogenic allele for rs62642941 is the deletion allele. However, even though they use the same identifier, the (I;I) genotype as defined by 23andMe appears to be the homozygote minor genotype causative for phenylketonuria.
是不是从WEGENE导出数据后，再导入到Promethease出了问题？
还是两家对PKU解读不一样？
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rs421016(G;G)
Gaucher disease; at least 5x higher risk of Parkinson's See discussion at rs421016.
rs421016, also known as L444P or Leu444Pro, is a SNP causing an amino acid change in the GBA gene; it is among the most common mutations associated with Gaucher disease of any type. Amino acid predictions from genome sequence may predict this as L483P or Leu483Pro; this disparity in position calling may be due to a 39 peptide signal sequence. Polyphen 2 predicts P04062 L483P to be "possibly damaging" with a score of 0.857 (sensitivity: 0.83; specificity: 0.93). ( P04062 is the uniprot ID for GBA.) The risk allele (in current dbSNP orientation) is (G), and as the inheritance is autosomal recessive, individuals must either be compound heterozygotes (for two different GBA mutations) or rs421016(G;G) homozygotes to develop Gaucher disease.
求大神解惑
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