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rs778653296(A;A)

From SNPedia
Schwartz Jampel syndrome type 1
Is agenotype
ofrs778653296
GeneHSPG2
Chromosome1
Position21,851,790
mentionedby
Magnitude7.8
ReputeBad
Geno Mag Summary
(A;A) 7.8 Schwartz Jampel syndrome type 1
(A;C) 3 Carrier for a Schwartz Jampel syndrome mutation
(C;C) 0 common in clinvar

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