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Table 2 Allele frequencies for three non-coding sequence variants in the upstream 5′ regulatory region of the NOS1AP gene, analysed in two LQT1 founder populations

From: Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis

Sequence variant

Alleles (A/a)

Genotype

N (%)

MAF

rs12143842

C/T

CC

150 (48)

0.3

  

CT

135 (43)

 
  

TT

27 (9)

 

rs16847548

T/C

TT

154 (49)

0.3

  

TC

137 (44)

 
  

CC

20 (6)

 

rs4657139

T/A

TT

124 (40)

0.4

  

TA

148 (47)

 
  

AA

39 (13)

 
  1. A ancestral or major allele, a derived or minor allele, MAF minor allele frequency
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BMC Medical Genetics

ISSN: 1471-2350

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