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Table 2 ATR sequence variant allele frequencies in different cohorts

From: Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families

    French-Canadian families Validation group Finnish families2 Reported in NCBI database
SNP SNP ID1 dbSNP ID n MAF n MAF n Carrier frequency MAF
- C.268C>T N/A 51 0.000 - - 126 0.127 N/A
5* C.632C>T rs2227928 52 0.385 45 0.389 126 0.460 0.425
6 c.946G>A rs28897764 50 0.047 42 0.037 126 0.000 N/A
11 C.1776A>T rs2227930 53 0.415 - - 126 0.508 0.412
12 C.1815T>C rs2227929 53 0.406 - - 126 0.468 0.378
14 c.2290A>G N/A 50 0.010 41 0.000 126 0.000 N/A
16 c.2875G>A rs28910271 48 0.052 46 0.000 126 0.000 0.010
27 c.5208T>C rs2227931 49 0.441 - - 126 0.238 0.263
30 c.5460T>C rs2227932 52 0.115 - - 126 0.262 0.105
32 c. 5739-4del9+T N/A 54 0.046 42 0.012 126 0.000 N/A
34 C.6394T>G rs28910273 54 0.009 44 0.000 126 0.008 0.016
39 c.7274G>A rs2229032 51 0.147 41 0.170 126 0.278 0.109
40 c.7875A>G rs1802904 50 0.120 - - 126 0.270 0.101
  1. 1 According to the nomenclature of the Human Genome Variation Society
  2. 2 Heikkinen et al. 2005, Breast Cancer Research 7 :R495-R501
  3. N/A: Information not available for this SNP or not reported in dbSNP
  4. - Not genotyped
  5. * T allele is considered as the common allele according to the reference sequence NM_001184
  6. MAF : Minor Allele Frequency