Table 2 Pair-wise correlation coefficients between the two founder BRCA1 mutations and all other SNPs among Ashkenazi Jews
Ashkenazim (n = 85) | Correlation (r 2) with | D' with | D' with | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
SNP name | rs number | SNP number | SNP description | mafa | Hetb | HW P-value | 185delAG | 5382insC | 185delAG | 5382insC |
C_9270420 | 13119 | 1 | NBR1: UTR | 0.424 | 0.52 | 0.580 | 0.011 | 0.001 | 1.000 | 1.000 |
C_9270421 | 748620 | 2 | NBR1: UTR | 0.440 | 0.52 | 0.640 | 0.016 | 0.000 | 1.000 | 1.000 |
C_9270454 | 17599948 | 3 | NBR1: intron | 0.211 | 0.35 | 0.649 | 0.016 | 0.001 | 1.000 | 1.000 |
C_95201 | 11653231 | 4 | NBR1: intron | 0.435 | 0.51 | 0.703 | 0.014 | 0.001 | 1.000 | 1.000 |
C_3178692 | 9908805 | 5 | LBRCA1: UTR | 0.000 | 1.000 | 1.000 | ||||
C_11631183 | 2175957 | 6 | NBR2: intron | 0.447 | 0.52 | 0.665 | 0.013 | 0.001 | 1.000 | 1.000 |
BR1_000340 | 3092986 | 7 | NBR2: intron | 0.051 | 0.10 | 0.636 | 0.001 | 0.000 | 1.000 | 1.000 |
BR1_000392 | 8176072 | 8 | NBR2:intron | 0.006 c | 0.01 | 0.957 | 0.000 | 1.000 | 1.000 | 1.000 |
BR1_000571 | 8176074 | 9 | NBR2:UTR | 0.000 | 1.000 | 1.000 | ||||
C_2615164 | 3765640 | 10 | BRCA1:UTR | 0.440 | 0.52 | 0.640 | 0.015 | 0.000 | 1.000 | 1.000 |
M_185delAG | NAd | 11 | BRCA1:exon 2 | 0.006 | 0.01 | 0.957 | NA | 0.000 | NA | 1.000 |
BR1_007918 | 8176090 | 12 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_010574 | 1800062 | 13 | BRCA1: P_K38K_(AAG>AAA) | 0.000 | 1.000 | 1.000 | ||||
BR1_010796 | 8176101 | 14 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
C_2615171 | 8176103 | 15 | BRCA1: intron | 0.463 | 0.56 | 0.291 | 0.014 | 0.000 | 1.000 | 1.000 |
BR1_011340 | 8176104 | 16 | BRCA1: intron | 0.024 | 0.05 | 0.824 | 0.001 | 0.000 | 1.000 | 1.000 |
C_2615172 | 8176109 | 17 | BRCA1: intron | 0.441 | 0.53 | 0.497 | 0.011 | 0.000 | 1.000 | 0.000 |
BR1_016775 | 8065872 | 18 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_017105 | 8176120 | 19 | BRCA1: intron | 0.424 | 0.49 | 0.913 | 0.015 | 0.001 | 1.000 | 1.000 |
BR1_018573 | 799914 | 20 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_019408 | 799913 | 21 | BRCA1: intron | 0.032 | 0.06 | 0.772 | 0.001 | 0.000 | 1.000 | 1.000 |
BR1_019904 | 8176128 | 22 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_020896 | 8176133 | 23 | BRCA1: intron | 0.422 | 0.51 | 0.738 | 0.012 | 0.000 | 1.000 | 1.000 |
C_2615180 | 799912 | 24 | BRCA1: intron | 0.472 | 0.52 | 0.701 | 0.011 | 0.000 | 1.000 | 0.000 |
BR1_026422 | 799923 | 25 | BRCA1: intron | 0.232 | 0.44 | 0.031 | 0.003 | 0.000 | 1.000 | 1.000 |
BR1_029258 | 8176145 | 26 | BRCA1: intron | 0.400 | 0.59 | 0.038 | 0.021 | 0.001 | 1.000 | 0.000 |
BR1_029448 | 8176146 | 27 | BRCA1: intron | 0.031 | 0.06 | 0.774 | 0.001 | 0.000 | 1.000 | 1.000 |
BR1_030748 | 7503154 | 28 | BRCA1: intron | 0.415 | 0.51 | 0.618 | 0.012 | 0.001 | 1.000 | 1.000 |
BR1_031875 | 1799950 | 29 | BRCA1: P_Q356R_(CAG>CGG) | 0.077 | 0.15 | 0.442 | 0.002 | 0.000 | 1.000 | 1.000 |
BR1_032885 | 4986850 | 30 | BRCA1: P_D693N_(GAC>AAC) | 0.133 | 0.19 | 0.096 | 0.001 | 0.000 | 0.000 | 1.000 |
BR1_033119 | 16940 | 31 | BRCA1: P_L771L_(TTG>CTG) | 0.422 | 0.53 | 0.429 | 0.012 | 0.001 | 1.000 | 1.000 |
BR1_033420 | 799917 | 32 | BRCA1:P_P871L_(CCG>CTG) | 0.429 | 0.51 | 0.766 | 0.015 | 0.001 | 1.000 | 1.000 |
BR1_003927 | 4986852 | 33 | BRCA1: P_S1040N_(AGC>AAC) | 0.012 | 0.02 | 0.912 | 0.000 | 0.000 | 1.000 | 1.000 |
BR1_034226 | 2227945 | 34 | BRCA1: P_S1140G_(AGT>GGT) | 0.000 | 1.000 | 1.000 | ||||
BR1_034356 | 16942 | 35 | BRCA1: P_K1183R_(AAA>AGA) | 0.433 | 0.50 | 0.868 | 0.015 | 0.001 | 1.000 | 1.000 |
C_7530109 | 799916 | 36 | BRCA1: intron | 0.438 | 0.53 | 0.482 | 0.015 | 0.000 | 1.000 | 1.000 |
BR1_035507 | 2070833 | 37 | BRCA1: intron | 0.031 | 0.04 | 0.001 | 0.001 | 0.000 | 1.000 | 1.000 |
BR1_036077 | 2070834 | 38 | BRCA1: intron | 0.435 | 0.52 | 0.626 | 0.014 | 0.001 | 1.000 | 1.000 |
BR1_036793 | 8176158 | 39 | BRCA1: intron | 0.418 | 0.54 | 0.393 | 0.012 | 0.000 | 1.000 | 1.000 |
BR1_036859 | 8176160 | 40 | BRCA1: intron | 0.435 | 0.52 | 0.626 | 0.014 | 0.001 | 1.000 | 1.000 |
BR1_038085 | 8176166 | 41 | BRCA1: intron | 0.196 | 0.35 | 0.391 | 0.018 | 0.000 | 0.388 | 1.000 |
BR1_040350 | 8176174 | 42 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
C_3178696 | 3950989 | 43 | BRCA1: intron | 0.441 | 0.52 | 0.566 | 0.007 | 0.000 | 1.000 | 1.000 |
BR1_040669 | 8176175 | 44 | BRCA1: intron | 0.006 | 0.01 | 0.956 | 0.000 | 0.000 | 1.000 | 1.000 |
BR1_041288 | 8176177 | 45 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_041721 | 8176178 | 46 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
C_3178676 | 1060915 | 47 | BRCA1: P_S1436S_(TCT>TCC) | 0.380 | 0.56 | 0.105 | 0.018 | 0.001 | 1.000 | 0.000 |
C_3178677 | 3737559 | 48 | BRCA1: intron | 0.124 | 0.20 | 0.481 | 0.001 | 0.001 | 0.462 | 1.000 |
BR1_045154 | 8176187 | 49 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_045505 | 8176188 | 50 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_0046019 | 6416927 | 51 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_047826 | 8176198 | 52 | BRCA1: intron | 0.422 | 0.53 | 0.429 | 0.016 | 0.001 | 1.000 | 1.000 |
BR1_0477839 | 8176199 | 53 | BRCA1: intron | 0.341 | 0.42 | 0.594 | 0.016 | 0.000 | 1.000 | 1.000 |
BR1_048551 | 4239147 | 54 | BRCA1: intron | 0.440 | 0.52 | 0.640 | 0.011 | 0.001 | 1.000 | 1.000 |
BR1_050244 | 8176206 | 55 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
C_11621042 | 2236762 | 56 | BRCA1: intron | 0.435 | 0.52 | 0.626 | 0.016 | 0.001 | 1.000 | 1.000 |
C_2615208 | 1799966 | 57 | BRCA1: intron | 0.456 | 0.54 | 0.456 | 0.008 | 0.000 | 1.000 | 0.185 |
BR1_055669 | 3092987 | 58 | BRCA1: intron | 0.416 | 0.52 | 0.545 | 0.013 | 0.002 | 1.000 | 1.000 |
BR1_056796 | 8176225 | 59 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_058369 | 8176232 | 60 | BRCA1: intron | 0.013 | 0.03 | 0.936 | 0.000 | 0.000 | 1.000 | 1.000 |
BR1_058614 | 8176234 | 61 | BRCA1: intron | 0.437 | 0.54 | 0.345 | 0.016 | 0.000 | 1.000 | 1.000 |
BR1_058834 | 8176235 | 62 | BRCA1: intron | 0.339 | 0.44 | 0.872 | 0.017 | 0.000 | 1.000 | 1.000 |
BR1_059589 | 8176236 | 63 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_060022 | 8176240 | 64 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_060520 | 8176242 | 65 | BRCA1: intron | 0.433 | 0.52 | 0.538 | 0.011 | 0.001 | 1.000 | 1.000 |
BR1_061014 | 8176245 | 66 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
C_2615220 | 3092994 | 67 | BRCA1: intron | 0.434 | 0.53 | 0.471 | 0.012 | 0.000 | 1.000 | 0.000 |
BR1_062588 | 8176259 | 68 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_0064398 | 8176265 | 69 | BRCA1: intron | 0.417 | 0.52 | 0.477 | 0.012 | 0.001 | 1.000 | 1.000 |
BR1_064501 | 2187603 | 70 | BRCA1: intron | 0.422 | 0.53 | 0.429 | 0.009 | 0.001 | 1.000 | 1.000 |
BR1_066741 | 8176273 | 71 | BRCA1: intron | 0.424 | 0.52 | 0.580 | 0.011 | 0.001 | 1.000 | 1.000 |
BR1_067978 | 8176278 | 72 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_068063 | 8066171 | 73 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
M_5382insC | NA | 74 | BRCA1:exon 20 | 0.006 | 0.01 | 0.957 | 0.000 | NA | 1.000 | NA |
C_2615230 | 8176289 | 75 | BRCA1: intron | 0.441 | 0.52 | 0.566 | 0.014 | 0.000 | 1.000 | 1.000 |
BR1_073023 | 8176293 | 76 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_074008 | 4793192 | 77 | BRCA1: intron | 0.435 | 0.52 | 0.626 | 0.016 | 0.001 | 1.000 | 1.000 |
BR1_074807 | 8176296 | 78 | BRCA1: intron | 0.435 | 0.51 | 0.703 | 0.015 | 0.000 | 1.000 | 1.000 |
C_2615238 | 3092988 | 79 | BRCA1: intron | 0.424 | 0.52 | 0.580 | 0.015 | 0.001 | 1.000 | 1.000 |
BR1_076933 | 8176303 | 80 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_077034 | 8176305 | 81 | BRCA1: intron | 0.094 | 0.16 | 0.753 | 0.002 | 0.001 | 1.000 | 1.000 |
BR1_077328 | 8176307 | 82 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_079220 | 8068463 | 83 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_079396 | 8176313 | 84 | BRCA1: intron | 0.006 | 0.01 | 0.957 | 0.000 | 0.000 | 1.000 | 1.000 |
BR1_080570 | 8176316 | 85 | BRCA1: intron | 0.000 | 1.000 | 1.000 | ||||
BR1_081125 | 8176318 | 86 | BRCA1: UTR | 0.435 | 0.49 | 0.963 | 0.009 | 0.001 | 1.000 | 1.000 |
BR1_081990 | 12516 | 87 | BRCA1: UTR | 0.435 | 0.52 | 0.626 | 0.014 | 0.001 | 1.000 | 1.000 |
BR1_082035 | 8176320 | 88 | BRCA1: UTR | 0.006 | 0.01 | 0.957 | 0.000 | 0.000 | 1.000 | 1.000 |
BR1_082199 | 8176321 | 89 | Intergenic | 0.000 | 1.000 | 1.000 | ||||
BR1_082687 | 8176323 | 90 | Intergenic | 0.429 | 0.51 | 0.766 | 0.015 | 0.001 | 1.000 | 1.000 |
C_11621012 | 7223952 | 91 | Intergenic | 0.441 | 0.52 | 0.566 | 0.014 | 0.000 | 1.000 | 1.000 |
C_3178665 | 9911630 | 92 | Intergenic | 0.422 | 0.53 | 0.429 | 0.016 | 0.001 | 1.000 | 1.000 |
C_2615245 | 11460963 | 93 | Intergenic | 0.441 | 0.53 | 0.497 | 0.014 | 0.001 | 1.000 | 1.000 |
C_3178699 | 2298861 | 94 | ARHN: locus | 0.441 | 0.55 | 0.309 | 0.011 | 0.001 | 0.000 | 1.000 |
C_3178698 | 2298862 | 95 | ARHN: locus | 0.447 | 0.54 | 0.383 | 0.011 | 0.001 | 1.000 | 1.000 |
C_2287905 | 443759 | 96 | IFI35:intron | 0.229 | 0.41 | 0.129 | 0.040 | 0.002 | 1.000 | 1.000 |
C_11617231 | 11871636 | 97 | RPL27: intron | 0.235 | 0.40 | 0.304 | 0.036 | 0.002 | 1.000 | 1.000 |
C_1588447 | 2271539 | 98 | RPL27: intron | 0.388 | 0.47 | 0.932 | 0.023 | 0.003 | 1.000 | 1.000 |
C_765227 | 690971 | 99 | MGC2744: intron | 0.000 | 1.000 | 1.000 | ||||
C_1588417 | 528854 | 100 | MGC2744: intergenic | 0.106 | 0.16 | 0.230 | 0.000 | 0.001 | 1.000 | 1.000 |
C_1588405 | 323495 | 101 | G6PC: intergenic | 0.316 | 0.37 | 0.182 | 0.004 | 0.000 | 0.205 | 1.000 |
C_3256885 | 2593595 | 102 | G6PC: intron | 0.124 | 0.15 | 0.007 | 0.000 | 0.001 | 1.000 | 1.000 |
C_3256881 | 324075 | 103 | Intergenic | 0.171 | 0.29 | 0.717 | 0.000 | 0.000 | 0.266 | 1.000 |
C_15883310 | 2290041 | 104 | PRKWNK4: mis-sense | 0.012 | 0.02 | 0.913 | 0.005 | 0.000 | 1.000 | 1.000 |
C_2160077 | 4321242 | 105 | RAMP2: intron | 0.480 | 0.58 | 0.158 | 0.003 | 0.000 | 1.000 | 1.000 |
C_1075621 | 752313 | 106 | EZH1: intergenic | 0.363 | 0.40 | 0.314 | 0.005 | 0.000 | 1.000 | 1.000 |
C_3256867 | 7359598 | 107 | EZH1: intergenic | 0.386 | 0.57 | 0.073 | 0.005 | 0.001 | 1.000 | 0.000 |
C_15959277 | 2271027 | 108 | EZH1: intron | 0.000 | 1.000 | 1.000 | ||||
C_1441435 | 7214055 | 109 | CNTNAP1: UTR | 0.149 | 0.30 | 0.109 | 0.001 | 0.001 | 1.000 | 1.000 |
C_1441436 | 9766 | 110 | CNTNAP1: UTR | 0.353 | 0.52 | 0.219 | 0.007 | 0.000 | 0.173 | 1.000 |
C_7529639 | 1553469 | 111 | CNTNAP1: silent | 0.065 | 0.11 | 0.248 | 0.002 | 0.000 | 0.463 | 1.000 |
C_1125369 | 2271029 | 112 | CNTNAP1: silent | 0.405 | 0.62 | 0.009 | 0.000 | 0.001 | 0.040 | 1.000 |
C_1441438 | 3760384 | 113 | CNTNAP1: intron | 0.359 | 0.58 | 0.020 | 0.005 | 0.000 | 1.000 | 1.000 |
C_1441444 | 2292749 | 114 | TUBG2: intron | 0.217 | 0.39 | 0.219 | 0.006 | 0.001 | 1.000 | 1.000 |