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rs137853248(A;A)

From SNPedia
Schwartz Jampel syndrome type 1
Is agenotype
ofrs137853248
GeneHSPG2
Chromosome1
Position21,864,874
mentionedby
Magnitude7.8
ReputeBad
Geno Mag Summary
(A;A) 7.8 Schwartz Jampel syndrome type 1
(A;G) 3 Carrier for a Schwartz Jampel syndrome mutation
(G;G) 0 common in clinvar

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