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rs113994205(A;G)

From SNPedia
Carrier of a cystinosis mutation
Is agenotype
ofrs113994205
GeneCTNS, LOC105371492
Chromosome17
Position3,655,305
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;G) 3 Carrier of a cystinosis mutation
(G;G) 0 common in clinvar

Unaffected in absence of a second CTNS gene mutation