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rs147394623(A;G)

From SNPedia
Carrier of a retinitis pigmentosa (RP) mutation
Is agenotype
ofrs147394623
GeneDHDDS
Chromosome1
Position26,438,228
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a retinitis pigmentosa (RP) mutation
(G;G) 4.4 Retinitis pigmentosa, type 59

Unaffected in absence of another DHDDS gene mutation; see discussion at rs147394623.