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rs145588689(C;G)

From SNPedia
Carrier for Aicardi-Goutieres syndrome mutation
Is agenotype
ofrs145588689
GeneADAR
Chromosome1
Position154,602,065
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 8 Aicardi-Goutieres syndrome? (pathogenicity unclear)
(C;G) 3 Carrier for Aicardi-Goutieres syndrome mutation
(G;G) 0 common in clinvar

Unaffected in absence of another ADAR gene mutation; see rs145588689