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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