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Table 2 Significant results of single variant testing for variants with more than 10 copies. Nine single variants with at least 10 allelic copies were identified within five phenotypes. There were 6,613 variants analyzed across 426 genes for survival and cancer and 3,389 variants analyzed across 408 genes for HDL, LDL and triglycerides

From: Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study

Phenotype (TE Score) chr Position (hg19) rsID gene Function Ref Variant MAF N Beta SE P-value
Survival 10 105642272   OBFC1 UTR3 C G 0.002 810 3.58 0.71 6.2E-7
Cancer 15 99501295   IGF1R UTR3 A G 0.007 4210 0.58 0.13 3.7E-6
HDL Cholesterol 16 57005301 rs1532625 CETP intron T C 0.38 3053 0.19 0.03 2.4E-13
  16 57015091 rs5880 CETP nsyn-exon C G 0.047 4049 −0.32 0.06 1.2E-8
  16 57017319 rs1800777 CETP nsyn-exon A G 0.029 3982 −0.40 0.07 8.1E-9
LDL Cholesterol 6 152679594 rs62426382 SYNE1 syn-exon G A 0.016 4035 0.45 0.09 1.6E-6
  19 45396144 rs11556505 TOMM40 syn-exon T C 0.10 4018 −0.19 0.04 1.5E-6
  19 45397229 rs1160983 TOMM40 syn-exon A G 0.02 2686 0.53 0.10 1.2E-7
Triglyceride 11 116703640 rs5128 APOC3 UTR3 G C 0.09 4003 −0.21 0.04 1.2E-7