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. 2014 Aug 18;24(1):265–273. doi: 10.1093/hmg/ddu420

Table 2.

Summary data for variants rs1975649, rs11008222 and rs8061121 in left-sided lesions in Stages 1 and 2

SNP (genotyped/imputed in Stage 1) Chra MAFb Positionc (bp) Gened Function P-values
Genotype relative riske (95% confidence interval)
Stage 1 Stage 2 Stage 1 + 2 Stage 1 Stage 2 Stage 1 + 2
Inherited effects
 rs8061121 (imputed)f 16 0.11 85750585 (AC136285.1) Intergenic 2.44 × 10−7 0.005 4.04 × 10−9 2.94 (1.91–4.54) 2.16 (1.24–3.76) 2.65 (1.89–3.71)
 rs1975649 (genotyped) 3 0.33 63413926 SYNPR Intron 1.08 × 10−6 0.03 3.38 × 10−7 1.87 (1.45–2.43) 1.38 (1.03–1.87) 1.65 (1.36–2.01)
Maternal effects
 rs11008222 (genotyped) 10 0.49 31082750 (ZNF438) Intergenic 9.60 × 10−6 0.02 6.27 × 10−7 1.68 (1.32–2.13) 1.55 (1.06–2.26) 1.64 (1.34–2.00)

aChromosome.

bMAF among study participant founders (i.e. mother and father).

cHg18/NCBI build 36.

dFor SNPs mapping within genes, gene names are listed, and for intergenic SNPs, the nearest gene is listed in parentheses.

eRelative risk estimate for carrying one copy of the high-risk allele compared to no copies, and corresponding 95% confidence interval.

fP-value for this variant in Stage 1 is based on the analyses of the subgroup of non-Hispanic Caucasian triads.