Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs147394623(G;G)

From SNPedia
Retinitis pigmentosa, type 59
Is agenotype
ofrs147394623
GeneDHDDS
Chromosome1
Position26,438,228
mentionedby
Magnitude4.4
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

See discussion at rs147394623 and about retinitis pigmentosa. Otherwise quite rare, this mutation is considered a founder mutation among the Ashkenazi Jewish population.