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Table 1 GJA9 c.1103_1104delAG genotype frequencies in three Leonberger cohorts

From: A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs

Polyneuropathy status Total wt/wt (homozygous normal; N/N) wt/del (heterozygous; D/N) del/del (homozygous mutant; D/D)
GWAS cohort 314 0.82 (258) 0.16 (51) 0.02 (5)
 Affecteda 176 0.72 (127) 0.25 (44) 0.03 (5)
 Non-affecteda,b 138 0.95 (131) 0.05 (7) 0
Follow-up cohort 608 0.87 (527) 0.13 (79) 0.003 (2)
 Affecteda 296 0.79 (235) 0.20 (59) 0.006 (2)
 Non-affecteda,b 312 0.94 (292) 0.06 (20) 0
Total 7455 0.94 (6995) 0.06 (443) 0.002 (17)
 Affecteda 474 0.76 (362) 0.22 (105) 0.02 (7)
 Non-affecteda,b 450 0.94 (423) 0.06 (27) 0
 Unknownc 6533 0.95 (6210) 0.05 (313) 0.002 (10)
  1. aOnly dogs that were homozygous wild type or heterozygous ARHGEF10 carriers
  2. bOnly dogs ≥8 years old that showed no signs of PN
  3. cDogs without known phenotype status that were submitted for diagnostic purposes