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Table 3 Significant results of single variant testing for variants with less than 10 copies. Twenty-three rare variants with less than 10 minor allele copies were identified for a single phenotype (longevity). These variants clustered in two families with high trait exceptionality scores for longevity. Genes in bold have a previously published relationship to longevity [9, 2934]

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

chr Position (hg19) rsID gene Function Ref Variant Minor Allele Count MAF N Beta SE P-value
7 17385235   AHR UTR3 A G 5 0.0006 810 3.58 0.71 6.18E-07
11 27680107 rs8192466 BDNF nsyn-exonic A G 8 0.0009 810 5.02 1.01 7.41E-07
16 57015065   CETP intronic T C 3 0.0004 809 5.00 1.01 8.69E-07
1 207813049   CR1 UTR3 A G 5 0.0006 810 5.02 1.01 7.41E-07
8 6735377   DEFB1 nsyn-exonic T C 1 0.0001 809 5.03 1.01 7.22E-07
10 71139772   HK1 nsyn-exonic T C 1 0.0001 794 5.04 1.01 6.53E-07
1 209959231   IRF6 UTR3 G A 4 0.0005 810 3.58 0.71 6.18E-07
21 35195906   ITSN1 syn-exonic A C 1 0.0001 810 5.02 1.01 7.41E-07
15 100256347   MEF2A UTR3 C T 2 0.0002 810 5.02 1.01 7.41E-07
1 12073445   MFN2 UTR3 T C 3 0.0003 810 5.07 1.01 6.10E-07
4 100544175   MTTP UTR3 G A 1 0.0001 810 5.07 1.01 6.10E-07
2 1794502   MYT1L UTR3 T C 1 0.0001 810 5.02 1.01 7.41E-07
16 50267300   PAPD5 UTR3 T C 4 0.0005 810 3.58 0.71 6.18E-07
2 223158616   PAX3 UTR3 T C 3 0.0003 810 3.58 0.71 6.18E-07
7 95214257   PDK4 UTR3 G A 2 0.0002 810 5.07 1.01 6.10E-07
5 149206403 rs374853976 PPARGC1B syn-exonic A G 1 0.0001 714 5.07 1.00 4.72E-07
10 99130549   RRP12 nsyn-exonic T C 1 0.0001 780 5.02 1.01 7.66E-07
17 28525015 rs199875985 SLC6A4 UTR3 G A 1 0.0001 810 5.07 1.01 6.10E-07
15 67479818 rs144245324 SMAD3 syn-exonic T C 3 0.0004 767 5.02 1.02 9.22E-07
3 24163883   THRB UTR3 T C 7 0.0008 810 3.58 0.71 6.18E-07
14 81610971   TSHR UTR3 A G 2 0.0002 810 5.07 1.01 6.10E-07
21 46189291   UBE2G2 UTR3 T C 3 0.0004 810 5.02 1.01 7.41E-07
19 9770038   ZNF562 intronic T G 2 0.0002 810 3.58 0.71 6.18E-07