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Table 2 Variant frequency in patient and control cohorts

From: Investigation of SLA4A3 as a candidate gene for human retinal disease

Variantsa 200 Patient Panel ExAC
SNP_IDb A1/A1 A2/A1 A2/A2 A2 Freq A1/A1 A2/A1 A2/A2 A2 Freq
1 199 1 0 0.003 56,529 146 1 0.001
2 199 1 0 0.003 60,093 93 1 7.89x10−4
3 199 1 0 0.003 46,193 8 0 8.66x10−5
  1. aA1 = Reference Allele, A2 = Minor/Variant Allele, depicted in Bold
  2. bSNP = single nucleotide polymorphism
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