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rs397517925(A;T)

From SNPedia
Carrier of an Usher syndrome mutation
Is agenotype
ofrs397517925
GeneUSH1G
Chromosome17
Position74,919,463
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Carrier of an Usher syndrome mutation
(T;T) 5 Usher syndrome, type 1G

Unaffected in absence of another pathogenic mutation in the USH1G gene; see rs397517925