HEX (Healthy Exomes)
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 14:73603131 | rs1800839 | C/T | 49 | 570 | 2 | 45 | 0.086 | upstream_gene_variant | ENST00000324501 | PSEN1 | 7.04386 | |||
| 14:73603132 | G/T | 1 | 572 | 0 | 1 | 0.0017 | upstream_gene_variant | ENST00000324501 | PSEN1 | 7.0035 | ||||
| 14:73603138 | G/T | 1 | 580 | 0 | 1 | 0.0017 | upstream_gene_variant | ENST00000324501 | PSEN1 | 7.31207 | ||||
| 14:73603201 | rs200531676 | C/A | 1 | 600 | 0 | 1 | 0.0017 | 5_prime_UTR_variant | ENST00000324501 | PSEN1 | 1/12 | 9.19167 | ||
| 14:73603236 | rs199680675 | C/T | 2 | 604 | 0 | 2 | 0.0033 | 5_prime_UTR_variant | ENST00000324501 | PSEN1 | 1/12 | 8.28808 | ||
| 14:73614638 | rs200737712 | G/C | 1 | 948 | 0 | 1 | 0.0011 | intron_variant | ENST00000324501 | PSEN1 | 16.5949 | |||
| 14:73614900 | rs138245461 | A/G | 2 | 906 | 0 | 2 | 0.0022 | intron_variant | ENST00000324501 | PSEN1 | 9.88631 | |||
| 14:73637421 | rs189861859 | G/T | 6 | 630 | 0 | 6 | 0.0095 | intron_variant | ENST00000324501 | PSEN1 | 10.6302 | |||
| 14:73637447 | rs565681598 | G/T | 1 | 644 | 0 | 1 | 0.0016 | intron_variant | ENST00000324501 | PSEN1 | 12.7826 | |||
| 14:73637794 | rs140089088 | G/A | 5 | 942 | 0 | 5 | 0.0053 | 0.002545 | intron_variant | ENST00000324501 | PSEN1 | 13.2091 | ||
| 14:73637836 | C/G | 1 | 934 | 0 | 1 | 0.0011 | intron_variant | ENST00000324501 | PSEN1 | 7.49572 | ||||
| 14:73640394 | rs753457678 | G/T | 1 | 954 | 0 | 1 | 0.001 | 0.000008236 | c.459G>T | synonymous_variant | ENST00000324501 | PSEN1 | 5/12 | 17.1216 |
| 14:73640559 | rs72734456 | C/T | 11 | 304 | 0 | 11 | 0.0362 | intron_variant | ENST00000324501 | PSEN1 | 13.2697 | |||
| 14:73653491 | GA/G | 4 | 936 | 0 | 4 | 0.0043 | intron_variant&feature_truncation | ENST00000324501 | PSEN1 | 9.05983 | ||||
| 14:73653491 | GA/GAA | 3 | 936 | 0 | 3 | 0.0032 | intron_variant&feature_elongation | ENST00000324501 | PSEN1 | 9.05983 | ||||
| 14:73659292 | A/G | 1 | 936 | 0 | 1 | 0.0011 | intron_variant | ENST00000324501 | PSEN1 | 6.69551 | ||||
| 14:73664670 | C/T | 1 | 950 | 0 | 1 | 0.0011 | intron_variant | ENST00000324501 | PSEN1 | 10.5358 | ||||
| 14:73664718 | rs3025786 | T/C | 52 | 954 | 0 | 52 | 0.0545 | 0.036 | intron_variant | ENST00000324501 | PSEN1 | 16.3092 | ||
| 14:73664751 | rs199723282 | T/G | 28 | 952 | 0 | 28 | 0.0294 | 0.019 | p.Val261Gly | missense_variant | ENST00000324501 | PSEN1 | 8/12 | 19.6197 |
| 14:73664853 | rs165932 | G/T | 518 | 956 | 138 | 242 | 0.5418 | 0.599 | intron_variant | ENST00000324501 | PSEN1 | 22.954 | ||
| 14:73673178 | rs17125721 | A/G | 21 | 956 | 0 | 21 | 0.022 | 0.015 | p.Glu318Gly | missense_variant&splice_region_variant | ENST00000324501 | PSEN1 | 9/12 | 15.8745 |
| 14:73673206 | rs177416 | C/T | 1 | 952 | 0 | 1 | 0.0011 | 0.001153 | intron_variant | ENST00000324501 | PSEN1 | 12.7542 | ||
| 14:73673258 | rs182569663 | C/T | 3 | 920 | 1 | 1 | 0.0033 | intron_variant | ENST00000324501 | PSEN1 | 6.11304 | |||
| 14:73675425 | rs532698728 | CA/C | 1 | 304 | 0 | 1 | 0.0033 | intron_variant&feature_truncation | ENST00000324501 | PSEN1 | 6.91447 | |||
| 14:73675703 | rs28532025 | G/A | 6 | 294 | 1 | 4 | 0.0204 | intron_variant | ENST00000324501 | PSEN1 | 2.37415 | |||
| 14:73675716 | rs61986903 | C/T | 16 | 274 | 3 | 10 | 0.0584 | intron_variant | ENST00000324501 | PSEN1 | 1.9708 | |||
| 14:73678527 | rs200753166 | T/G | 2 | 956 | 0 | 2 | 0.0021 | 0.0001235 | p.Phe336Val | missense_variant | ENST00000324501 | PSEN1 | 10/12 | 16.932 |
| 14:73683938 | rs200525059 | G/T | 8 | 956 | 0 | 8 | 0.0084 | 0.005494 | p.Val412Leu | missense_variant | ENST00000324501 | PSEN1 | 11/12 | 18.6056 |
| 14:73683960 | rs362382 | T/C | 2 | 956 | 0 | 2 | 0.0021 | 0.005098 | splice_region_variant&intron_variant | ENST00000324501 | PSEN1 | 16.6412 | ||
| 14:73683999 | rs780429161 | C/T | 1 | 950 | 0 | 1 | 0.0011 | 0.000008236 | intron_variant | ENST00000324501 | PSEN1 | 13.0168 | ||
| 14:73684031 | rs774025917 | G/A | 1 | 932 | 0 | 1 | 0.0011 | intron_variant | ENST00000324501 | PSEN1 | 9.00966 | |||
| 14:73686068 | rs201452973 | A/G | 1 | 950 | 0 | 1 | 0.0011 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 16.3 | ||
| 14:73686208 | rs200186908 | G/A | 1 | 914 | 0 | 1 | 0.0011 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 12.3753 | ||
| 14:73686310 | rs362384 | C/A | 55 | 626 | 1 | 53 | 0.0879 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 16.6102 | ||
| 14:73686325 | rs200067194 | C/T | 1 | 634 | 0 | 1 | 0.0016 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 15.3454 | ||
| 14:73686361 | rs362385 | T/C | 22 | 624 | 0 | 22 | 0.0353 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 15.4663 | ||
| 14:73686446 | rs112911413 | T/C | 1 | 618 | 0 | 1 | 0.0016 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 17.5906 | ||
| 14:73686669 | rs192897390 | G/A | 2 | 594 | 0 | 2 | 0.0034 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 18.4158 | ||
| 14:73686944 | rs7523 | G/A | 97 | 636 | 8 | 81 | 0.1525 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 22.033 | ||
| 14:73687144 | rs165935 | C/T | 313 | 584 | 90 | 133 | 0.536 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 29.7894 | ||
| 14:73687377 | rs181825217 | C/T | 1 | 646 | 0 | 1 | 0.0015 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 14.9458 | ||
| 14:73687378 | rs362387 | G/A | 6 | 644 | 0 | 6 | 0.0093 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 14.9938 | ||
| 14:73687395 | rs144725513 | G/A | 1 | 636 | 0 | 1 | 0.0016 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 15.3821 | ||
| 14:73687582 | rs185405511 | A/T | 1 | 634 | 0 | 1 | 0.0016 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 12.9637 | ||
| 14:73687863 | rs563773430 | CACAG/C | 2 | 580 | 0 | 2 | 0.0034 | 3_prime_UTR_variant&feature_truncation | ENST00000324501 | PSEN1 | 12/12 | 13.3552 | ||
| 14:73688105 | rs368329004 | G/A | 1 | 582 | 0 | 1 | 0.0017 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 14.6976 | ||
| 14:73688298 | CTTT/CTT | 106 | 590 | 1 | 104 | 0.1797 | 3_prime_UTR_variant&feature_truncation | ENST00000324501 | PSEN1 | 12/12 | 25.2051 | |||
| 14:73688298 | CTTT/CT | 2 | 590 | 0 | 2 | 0.0034 | 3_prime_UTR_variant&feature_truncation | ENST00000324501 | PSEN1 | 12/12 | 25.2051 | |||
| 14:73688298 | CTTT/CTTTT | 8 | 590 | 0 | 8 | 0.0136 | 3_prime_UTR_variant&feature_elongation | ENST00000324501 | PSEN1 | 12/12 | 25.2051 | |||
| 14:73688322 | rs546052493 | A/G | 1 | 592 | 0 | 1 | 0.0017 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 19.0152 | ||
| 14:73688577 | rs117394753 | C/T | 3 | 614 | 1 | 1 | 0.0049 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 20.4479 | ||
| 14:73688632 | C/A | 3 | 608 | 0 | 3 | 0.0049 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 21.2171 | |||
| 14:73688656 | rs531711335 | A/T | 2 | 602 | 1 | 0 | 0.0033 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 21.2841 | ||
| 14:73688755 | T/C | 1 | 592 | 0 | 1 | 0.0017 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 21.3429 | |||
| 14:73688861 | rs362389 | A/C | 31 | 582 | 0 | 31 | 0.0533 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 19.9485 | ||
| 14:73689492 | rs141799841 | A/G | 1 | 594 | 0 | 1 | 0.0017 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 21.1128 | ||
| 14:73689535 | rs362392 | C/G | 2 | 602 | 0 | 2 | 0.0033 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 20.8472 | ||
| 14:73689629 | rs362393 | G/A | 53 | 614 | 0 | 53 | 0.0863 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 21.9723 | ||
| 14:73689719 | rs362344 | C/T | 108 | 588 | 8 | 92 | 0.1837 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 29.7755 | ||
| 14:73690027 | rs186752250 | A/G | 3 | 626 | 0 | 3 | 0.0048 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 15.0096 | ||
| 14:73690144 | rs362396 | T/G | 1 | 636 | 0 | 1 | 0.0016 | 3_prime_UTR_variant | ENST00000324501 | PSEN1 | 12/12 | 12.9025 |