| Geno
|
Mag
|
Summary
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| (A;A)
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0
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common in complete genomics
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| (A;C)
|
5
|
Possible late-onset Parkinson's disease variant
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| (C;C)
|
5
|
Possible late-onset Parkinson's disease variant
|
rs113169049, also known as Ser1164Arg or S1164R, is a SNP in the eukaryotic translation initiation factor 4 gamma, 1
EIF4G1 gene on chromosome 3.
A study of several cases of familial Parkinson's disease concluded that rs113169049(C), a very rare allele, may be a dominant mutation leading to late-onset disease. Other mutations in the EIF4G1 gene were also found, with varying degrees of certainty regarding their pathogenicity.10.1016/j.ajhg.2011.08.009
