HEX (Healthy Exomes)

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Region: 19:45404058-45412532

Gene: APOE

Available Transcripts

  • * canonical transcript

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SNP Position   rsID   Alleles   Allele Count   Allele Number   Number of Homozygotes   Number of Heterozygotes   Hex MAF   ExAC MAF   Consequence   Annotation   Ensembl Transcript ID Gene Exon/Total Exons Avg. Sample Read Depth  
19:45404058 rs142412517 C/T 1 954 0 1 0.001 0.0003953 upstream_gene_variant ENST00000252486 APOE 15.2662
19:45404096 rs376658920 T/C 1 954 0 1 0.001 0.000008236 upstream_gene_variant ENST00000252486 APOE 16.8648
19:45404121 rs73052321 G/A 5 954 0 5 0.0052 0.006195 upstream_gene_variant ENST00000252486 APOE 16.5073
19:45404244 rs202022431 C/T 1 954 0 1 0.001 0.00007413 upstream_gene_variant ENST00000252486 APOE 17.3061
19:45404431 rs741780 T/C 416 954 84 248 0.4361 0.468 upstream_gene_variant ENST00000252486 APOE 28.6971
19:45404432 rs117264457 G/A 21 954 1 19 0.022 0.011 upstream_gene_variant ENST00000252486 APOE 19.043
19:45404557 rs775119358 C/T 1 954 0 1 0.001 0.000008237 upstream_gene_variant ENST00000252486 APOE 20.5577
19:45404579 rs394819 G/T 1 954 0 1 0.001 0.011 upstream_gene_variant ENST00000252486 APOE 20.2275
19:45404592 rs755101864 G/A 1 954 0 1 0.001 0.00006599 upstream_gene_variant ENST00000252486 APOE 19.5996
19:45404691 rs405697 A/G 216 304 77 62 0.7105 upstream_gene_variant ENST00000252486 APOE 27.2467
19:45404721 rs116977783 C/T 1 304 0 1 0.0033 upstream_gene_variant ENST00000252486 APOE 13.0658
19:45406198 rs765938638 G/A 1 928 0 1 0.0011 upstream_gene_variant ENST00000252486 APOE 11.6218
19:45406310 rs369908633 G/A 1 954 0 1 0.001 0.00005765 upstream_gene_variant ENST00000252486 APOE 15.5262
19:45406480 T/C 1 646 0 1 0.0015 upstream_gene_variant ENST00000252486 APOE 16.7229
19:45406538 rs34215622 C/CG 241 622 39 163 0.3875 upstream_gene_variant ENST00000252486 APOE 20.3698
19:45406644 A/G 1 644 0 1 0.0016 upstream_gene_variant ENST00000252486 APOE 21.0761
19:45406673 rs10119 G/A 163 626 23 117 0.2604 upstream_gene_variant ENST00000252486 APOE 24.5831
19:45406784 rs567079891 G/C 5 608 0 5 0.0082 upstream_gene_variant ENST00000252486 APOE 15.7615
19:45406900 GAAA/G 2 600 0 2 0.0033 upstream_gene_variant ENST00000252486 APOE 17.4483
19:45406935 GA/G 1 608 0 1 0.0016 upstream_gene_variant ENST00000252486 APOE 13.6036
19:45409113 rs9282609 C/T 1 944 0 1 0.0011 intron_variant ENST00000252486 APOE 13.1165
19:45409167 rs440446 C/G 541 898 175 191 0.6024 0.542 intron_variant ENST00000252486 APOE 8.49777
19:45409988 rs143063029 C/T 2 946 0 2 0.0021 intron_variant ENST00000252486 APOE 9.71459
19:45410002 rs769449 G/A 94 946 10 74 0.0994 intron_variant ENST00000252486 APOE 8.96194
19:45410972 rs780533924 C/G 1 944 0 1 0.0011 0.000008281 intron_variant ENST00000252486 APOE 12.3718
19:45411110 rs769452 T/C 2 954 0 2 0.0021 0.002405 p.Leu46Pro missense_variant ENST00000252486 APOE 3/4 17.0314
19:45411834 rs776830091 C/A 1 936 0 1 0.0011 0.000008237 p.Ser94Ter stop_gained ENST00000252486 APOE 4/4 7.37393
19:45411903 rs372938213 C/T 1 876 0 1 0.0011 0.00001662 p.Ala117Val missense_variant ENST00000252486 APOE 4/4 5.92009
19:45411941 rs429358 T/C 51 546 3 45 0.0934 0.1 p.Cys130Arg missense_variant ENST00000252486 APOE 4/4 7.35165
19:45411944 G/T 1 546 0 1 0.0018 p.Gly131Cys missense_variant ENST00000252486 APOE 4/4 7.51465
19:45412079 rs7412 C/T 49 480 4 41 0.1021 0.036 p.Arg176Cys missense_variant ENST00000252486 APOE 4/4 13.0625
19:45412178 C/T 1 388 0 1 0.0026 p.Arg209Trp missense_variant ENST00000252486 APOE 4/4 4.61083
19:45412314 rs199768005 T/A 2 762 0 2 0.0026 0.0004309 p.Val254Glu missense_variant ENST00000252486 APOE 4/4 9.60367
19:45412358 rs267606661 C/G 1 786 0 1 0.0013 0.0001999 p.Arg269Gly missense_variant ENST00000252486 APOE 4/4 10.729
19:45412439 rs757764781 G/T 1 772 0 1 0.0013 0.00002494 p.Gly296Trp missense_variant ENST00000252486 APOE 4/4 10.9754
19:45412532 rs374329439 C/T 1 536 0 1 0.0019 0.0009391 3_prime_UTR_variant ENST00000252486 APOE 4/4 12.1604

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