純合片段分析
姓氏祖源
祖源平均臉
基因關系
基因保險助手
原始數據
中國的ESRRG基因
綜合討論組
將WEGENE的數據導入Promethease顯示PKU，但在WEGENE顯示無PKU即苯丙酮尿癥
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.
是不是從WEGENE導出數據后，再導入到Promethease出了問題？
還是兩家對PKU解讀不一樣？
?
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.
是不是從WEGENE導出數據后，再導入到Promethease出了問題？
還是兩家對PKU解讀不一樣？
?
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贊同來自: MaxWu 、波風若川
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.
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