Table 1.

Known and candidate polymorphisms in genes involved in telomere biology

Gene (Reference seq.)SNP IDRegionPolymorphismMinor allele frequency*
Koreans (n = 27)GlobalAsianEuropean
TERT (DQ264729)rs2735940Promoter−1327C > T0.3700.5540.3700.523
rs10462697Promoter−512G > T0.0190.0050.021
rs2853669Promoter−244T > C0.3330.2830.2920.386
rs11952056Exon 2S191T (G > C)0.019
rs2736098Exon 2A305A (G > A)0.3150.2570.2500.367
rs13167280Intron 3IVS3-24C > T0.0560.1200.1880.091
rs28428579Intron 4IVS4-42C > T0.0190.0000.000
rs50310493′UTR*167C > T0.0000.0100.0000.000
rs28536903′UTR*203C > T0.0000.1830.0000.167
TRF1 (NT_008183)rs2975843Promoter−1119A > G0.1670.1250.533
rs2975841Intron 2IVS2+11T > G0.3890.3100.727
rs4092743Exon 10V430L (C > G)0.0000.0000.000
TNKS1 (NT_077531)rs6990097Promoter−588T > C0.4070.4000.246
rs11787387Promoter−169C > A0.000
rs7821559Promoter−145A > G0.4070.4740.283
rs6985140Intron 3IVS3-34A > G0.1110.1230.1330.075
rs7006985Exon 8T462T (A > G)0.4070.5640.3500.587
rs13280377Exon 13E656K (G > A)0.0000.0000.000
rs7001395Intron 14IVS14-34T > A0.0930.1100.0920.059
TIN2 (NT_026437)rs283727345′UTR2G > C0.0740.0310.114
TRF2 (NT_010498)rs34415214Intron 1IVS1-4C > T0.0000.0510.068
rs34014829Exon 7P280Q (C > A)0.000
rs13337258Exon 7L377V (C > G)0.000
rs251796Intron 7IVS7-41T > C0.4630.2820.3330.233
rs35874485Exon 8S413G (A > G)0.0000.0050.000
RAP1 (NT_010498)rs2233805Promoter−542T > C0.0000.0110.052
rs18654935′UTR59G > C0.1670.2210.895
rs4888444Exon 3K324E (A > G)0.0000.0000.050
POT1 (NT_007933)rs125371615′UTR−1361C > T0.4810.4010.437
rs102286825′UTR−809A > G0.4630.4650.375
rs6959712Intron 5IVS5+8T > A0.4630.4020.438
rs6977407Intron 5IVS5+9G > T0.4630.4020.437
rs7784168Intron 6IVS6-33A > G0.0560.2380.2110.331
rs3815221Intron 9IVS9-13C > T0.4810.4560.375
rs10263573Intron 12IVS12+41T > A0.4810.4020.4770.379
rs17147565Exon 15T628T (A > C)0.0000.0290.0000.000
  • *Information about SNPs, SNP ID, and frequencies of variant alleles in other ethnic populations were obtained from National Center for Biotechnology Information database (http://www.ncbi.nlm.nih.gov). In the reference sequence, the transcription start site was counted as +1.