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rs104894839(A;G)

From SNPedia
Carrier of a Fabry disease mutation; X-linked so risk is to sons
Is agenotype
ofrs104894839
GeneGLA, RPL36A-HNRNPH2
ChromosomeX
Position101,398,508
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 6 Fabry disease
(A;G) 3 Carrier of a Fabry disease mutation; X-linked so risk is to sons
(G;G) 0 common in clinvar

Mostly unaffected in absence of a second GLA gene mutation; see text and links via main rs-page