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rs397515360(-;C)

From SNPedia
(Redirected from I5012559(D;I))
Carrier of an achromatopsia mutation
Is agenotype
ofrs397515360
GeneCNGB3
Chromosome8
Position86,643,781
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 5 Achromatopsia
(-;C) 3 Carrier of an achromatopsia mutation
(C;C) 0 common in clinvar

Unaffected unless carrying a second CNBG3 gene mutation; see rs397515360