HEX (Healthy Exomes)
Search Hex
Search Results
Available Transcripts
* canonical transcript
Modify Table
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
17:43972781 | rs150602007 | AG/A | 72 | 580 | 6 | 60 | 0.1241 | intron_variant&feature_truncation | ENST00000344290 | MAPT | 5.59828 | |||
17:43972857 | A/G | 1 | 556 | 0 | 1 | 0.0018 | intron_variant | ENST00000344290 | MAPT | 6.09173 | ||||
17:43972915 | rs3744457 | C/T | 142 | 198 | 54 | 34 | 0.7172 | intron_variant | ENST00000344290 | MAPT | 7.56566 | |||
17:43972932 | G/T | 2 | 204 | 1 | 0 | 0.0098 | intron_variant | ENST00000344290 | MAPT | 5.22549 | ||||
17:43972954 | G/A | 1 | 190 | 0 | 1 | 0.0053 | intron_variant | ENST00000344290 | MAPT | 4.07895 | ||||
17:43973080 | rs74548327 | A/G | 80 | 536 | 19 | 42 | 0.1493 | intron_variant | ENST00000344290 | MAPT | 3.9291 | |||
17:43973121 | rs111972148 | G/C | 110 | 576 | 21 | 68 | 0.191 | intron_variant | ENST00000344290 | MAPT | 5.92014 | |||
17:43973233 | rs76324150 | C/T | 137 | 612 | 25 | 87 | 0.2239 | intron_variant | ENST00000344290 | MAPT | 14.2565 | |||
17:43973408 | rs113347741 | C/T | 133 | 608 | 24 | 85 | 0.2188 | intron_variant | ENST00000344290 | MAPT | 15.1316 | |||
17:43973413 | rs78720789 | A/G | 133 | 608 | 24 | 85 | 0.2188 | intron_variant | ENST00000344290 | MAPT | 15.1957 | |||
17:43973498 | rs4792891 | T/G | 211 | 590 | 41 | 129 | 0.3576 | intron_variant | ENST00000344290 | MAPT | 21.1864 | |||
17:43973652 | rs62056780 | C/T | 127 | 578 | 26 | 75 | 0.2197 | intron_variant | ENST00000344290 | MAPT | 7.42561 | |||
17:43973899 | rs62056781 | T/C | 127 | 592 | 22 | 83 | 0.2145 | intron_variant | ENST00000344290 | MAPT | 8.67061 | |||
17:43974025 | rs550636625 | C/T | 1 | 580 | 0 | 1 | 0.0017 | intron_variant | ENST00000344290 | MAPT | 14.2293 | |||
17:43974065 | rs74496580 | C/A | 131 | 574 | 23 | 85 | 0.2282 | intron_variant | ENST00000344290 | MAPT | 17.2857 | |||
17:43974147 | rs3785878 | C/T | 114 | 584 | 11 | 92 | 0.1952 | intron_variant | ENST00000344290 | MAPT | 17.0788 | |||
17:43974162 | C/T | 1 | 590 | 0 | 1 | 0.0017 | intron_variant | ENST00000344290 | MAPT | 16.3085 | ||||
17:43974230 | rs62056782 | C/T | 136 | 598 | 25 | 86 | 0.2274 | intron_variant | ENST00000344290 | MAPT | 22.2776 | |||
17:43974301 | rs761796961 | C/A | 2 | 620 | 0 | 2 | 0.0032 | intron_variant | ENST00000344290 | MAPT | 20.0387 | |||
17:43974343 | rs111752348 | TCGC/T | 136 | 606 | 25 | 86 | 0.2244 | intron_variant&feature_truncation | ENST00000344290 | MAPT | 17.2261 | |||
17:43974354 | rs113161176 | G/A | 134 | 610 | 24 | 86 | 0.2197 | intron_variant | ENST00000344290 | MAPT | 16.0689 | |||
17:43974476 | rs80346216 | G/T | 129 | 554 | 28 | 73 | 0.2329 | intron_variant | ENST00000344290 | MAPT | 6.88809 | |||
17:43974477 | rs76632685 | A/T | 129 | 558 | 28 | 73 | 0.2312 | intron_variant | ENST00000344290 | MAPT | 6.83871 | |||
17:43974549 | rs62056783 | G/C | 129 | 576 | 25 | 79 | 0.224 | intron_variant | ENST00000344290 | MAPT | 8.15625 | |||
17:43974594 | rs7224541 | G/A | 74 | 592 | 4 | 66 | 0.125 | intron_variant | ENST00000344290 | MAPT | 9.56081 | |||
17:43974889 | rs62056784 | C/G | 139 | 610 | 26 | 87 | 0.2279 | intron_variant | ENST00000344290 | MAPT | 16.959 | |||
17:43975122 | rs539446284 | ATGGGGGCTCCGACAGCGACTGCC/A | 4 | 646 | 0 | 4 | 0.0062 | intron_variant&feature_truncation | ENST00000344290 | MAPT | 18.5372 | |||
17:43975263 | rs62056785 | T/C | 133 | 612 | 24 | 85 | 0.2173 | intron_variant | ENST00000344290 | MAPT | 30.0556 | |||
17:43975285 | rs62056786 | T/C | 133 | 620 | 24 | 85 | 0.2145 | intron_variant | ENST00000344290 | MAPT | 28.9661 | |||
17:43975360 | rs151131666 | ATTACTGTATAAGCTGCTTATAT/A | 131 | 572 | 23 | 85 | 0.229 | intron_variant&feature_truncation | ENST00000344290 | MAPT | 19.2657 | |||
17:43975415 | rs62056789 | A/C | 130 | 584 | 23 | 84 | 0.2226 | intron_variant | ENST00000344290 | MAPT | 20.149 | |||
17:43975417 | rs62056790 | G/A | 130 | 586 | 23 | 84 | 0.2218 | intron_variant | ENST00000344290 | MAPT | 20.1809 | |||
17:43975445 | rs548544359 | G/A | 2 | 610 | 0 | 2 | 0.0033 | intron_variant | ENST00000344290 | MAPT | 18.5967 | |||
17:43975583 | rs557825586 | G/T | 1 | 638 | 0 | 1 | 0.0016 | intron_variant | ENST00000344290 | MAPT | 17.3072 | |||
17:43975676 | T/C | 1 | 614 | 0 | 1 | 0.0016 | intron_variant | ENST00000344290 | MAPT | 16.5309 | ||||
17:43975859 | rs770506427 | G/T | 1 | 628 | 0 | 1 | 0.0016 | intron_variant | ENST00000344290 | MAPT | 18.2134 | |||
17:43975888 | rs139197430 | C/T | 2 | 614 | 0 | 2 | 0.0033 | intron_variant | ENST00000344290 | MAPT | 18.3046 | |||
17:43976064 | rs62056791 | T/C | 136 | 580 | 25 | 86 | 0.2345 | intron_variant | ENST00000344290 | MAPT | 27.4379 | |||
17:43976235 | rs11079726 | A/G | 405 | 556 | 156 | 93 | 0.7284 | intron_variant | ENST00000344290 | MAPT | 7.41727 | |||
17:44039605 | GAGGAGAGGC/G | 1 | 646 | 0 | 1 | 0.0015 | intron_variant&feature_truncation | ENST00000344290 | MAPT | 14.9659 | ||||
17:44039634 | rs757868162 | C/G | 1 | 872 | 0 | 1 | 0.0011 | intron_variant | ENST00000344290 | MAPT | 13.3096 | |||
17:44039658 | rs11872014 | G/A | 10 | 928 | 2 | 6 | 0.0108 | 0.002833 | intron_variant | ENST00000344290 | MAPT | 14.0388 | ||
17:44039687 | G/A | 1 | 954 | 0 | 1 | 0.001 | splice_region_variant&5_prime_UTR_variant | ENST00000344290 | MAPT | 2/15 | 15.5556 | |||
17:44039691 | rs17650901 | A/G | 239 | 952 | 44 | 151 | 0.2511 | 0.144 | 5_prime_UTR_variant | ENST00000344290 | MAPT | 2/15 | 20.0683 | |
17:44039820 | rs63750529 | G/A | 1 | 954 | 0 | 1 | 0.001 | 0.002067 | c.117G>A | synonymous_variant | ENST00000344290 | MAPT | 2/15 | 18.5346 |
17:44049133 | rs62063303 | T/C | 220 | 918 | 43 | 134 | 0.2397 | intron_variant | ENST00000344290 | MAPT | 9.72331 | |||
17:44049314 | G/GCAAATAGTCTACAAACCAGTTGACCTGAGCAAGGTGACCTCCAAGT | 1 | 952 | 0 | 1 | 0.0011 | splice_region_variant&intron_variant&feature_elongation | ENST00000344290 | MAPT | 14.7574 | ||||
17:44049329 | rs75242405 | C/T | 237 | 952 | 43 | 151 | 0.2489 | 0.144 | intron_variant | ENST00000344290 | MAPT | 21.5861 | ||
17:44049429 | rs754783825 | G/A | 1 | 304 | 0 | 1 | 0.0033 | intron_variant | ENST00000344290 | MAPT | 18.1645 | |||
17:44051588 | rs117124984 | C/G | 62 | 272 | 18 | 26 | 0.2279 | intron_variant | ENST00000344290 | MAPT | 2.04044 | |||
17:44051589 | rs118087478 | T/G | 62 | 272 | 18 | 26 | 0.2279 | intron_variant | ENST00000344290 | MAPT | 2.08088 | |||
17:44051612 | rs77875796 | A/G | 73 | 300 | 16 | 41 | 0.2433 | intron_variant | ENST00000344290 | MAPT | 3.44333 | |||
17:44051712 | rs779408946 | CGTCCTGG/C | 30 | 954 | 0 | 30 | 0.0314 | 0.022 | intron_variant&feature_truncation | ENST00000344290 | MAPT | 15.5493 | ||
17:44051712 | rs779408946 | CGTCCTGG/CCCTGG | 11 | 954 | 0 | 11 | 0.0115 | 0.001522 | intron_variant&feature_truncation | ENST00000344290 | MAPT | 15.5493 | ||
17:44051713 | rs544467717 | G/C | 35 | 944 | 0 | 35 | 0.0371 | 0.029 | intron_variant | ENST00000344290 | MAPT | 13.1886 | ||
17:44051715 | rs758994633 | CCTGG/C | 11 | 954 | 0 | 11 | 0.0115 | 0.001457 | intron_variant&feature_truncation | ENST00000344290 | MAPT | 13.4224 | ||
17:44051791 | rs368318765 | G/A | 1 | 954 | 0 | 1 | 0.001 | 0.00005775 | c.261G>A | synonymous_variant | ENST00000344290 | MAPT | 4/15 | 17.7222 |
17:44051846 | rs1800547 | A/G | 239 | 952 | 44 | 151 | 0.2511 | 0.133 | intron_variant | ENST00000344290 | MAPT | 16.8193 | ||
17:44051849 | C/T | 1 | 952 | 0 | 1 | 0.0011 | intron_variant | ENST00000344290 | MAPT | 14.5683 | ||||
17:44051924 | rs17651213 | G/A | 215 | 896 | 42 | 131 | 0.24 | intron_variant | ENST00000344290 | MAPT | 5.76897 | |||
17:44051927 | rs148721531 | T/C | 2 | 870 | 0 | 2 | 0.0023 | intron_variant | ENST00000344290 | MAPT | 5.44943 | |||
17:44051930 | rs143627495 | A/G | 1 | 864 | 0 | 1 | 0.0012 | intron_variant | ENST00000344290 | MAPT | 5.30671 | |||
17:44055638 | rs754513 | T/A | 84 | 304 | 15 | 54 | 0.2763 | 0.144 | intron_variant | ENST00000344290 | MAPT | 30.227 | ||
17:44055647 | rs754512 | A/T | 229 | 938 | 42 | 145 | 0.2441 | 0.144 | intron_variant | ENST00000344290 | MAPT | 15.3539 | ||
17:44055844 | rs572651755 | TG/T | 2 | 952 | 0 | 2 | 0.0021 | 0.001343 | intron_variant&feature_truncation | ENST00000344290 | MAPT | 12.6691 | ||
17:44055859 | GGGGT/G | 1 | 950 | 0 | 1 | 0.0011 | intron_variant&feature_truncation | ENST00000344290 | MAPT | 10.1305 | ||||
17:44055863 | T/TG | 2 | 946 | 0 | 2 | 0.0021 | intron_variant&feature_elongation | ENST00000344290 | MAPT | 9.13319 | ||||
17:44060467 | G/T | 2 | 904 | 1 | 0 | 0.0022 | intron_variant | ENST00000344290 | MAPT | 3.65265 | ||||
17:44060492 | rs80189278 | G/A | 40 | 914 | 1 | 38 | 0.0438 | intron_variant | ENST00000344290 | MAPT | 5.1105 | |||
17:44060775 | rs63750417 | C/T | 223 | 926 | 41 | 141 | 0.2408 | 0.144 | p.Pro202Leu | missense_variant | ENST00000344290 | MAPT | 6/15 | 15.2052 |
17:44060841 | rs141120474 | T/G | 5 | 938 | 1 | 3 | 0.0053 | 0.002218 | p.Val224Gly | missense_variant | ENST00000344290 | MAPT | 6/15 | 13.5864 |
17:44060859 | rs63750072 | A/G | 50 | 932 | 1 | 48 | 0.0536 | 0.039 | p.Gln230Arg | missense_variant | ENST00000344290 | MAPT | 6/15 | 14.8648 |
17:44060876 | rs764221455 | A/G | 1 | 938 | 0 | 1 | 0.0011 | 0.00001653 | p.Lys236Glu | missense_variant | ENST00000344290 | MAPT | 6/15 | 14.7303 |
17:44061023 | rs62063786 | G/A | 238 | 954 | 43 | 152 | 0.2495 | 0.145 | p.Asp285Asn | missense_variant | ENST00000344290 | MAPT | 6/15 | 24.3753 |
17:44061025 | rs63750222 | C/T | 116 | 952 | 4 | 108 | 0.1218 | 0.122 | c.855C>T | synonymous_variant | ENST00000344290 | MAPT | 6/15 | 26.3414 |
17:44061036 | rs62063787 | T/C | 238 | 952 | 43 | 152 | 0.25 | 0.145 | p.Val289Ala | missense_variant | ENST00000344290 | MAPT | 6/15 | 24.9727 |
17:44061123 | rs73314997 | C/T | 1 | 954 | 0 | 1 | 0.001 | p.Ser318Leu | missense_variant | ENST00000344290 | MAPT | 6/15 | 19.6268 | |
17:44061124 | rs139144750 | G/T | 1 | 954 | 0 | 1 | 0.001 | 0.000173 | c.954G>T | synonymous_variant | ENST00000344290 | MAPT | 6/15 | 19.6855 |
17:44061278 | rs17651549 | C/T | 238 | 954 | 43 | 152 | 0.2495 | 0.143 | p.Arg370Trp | missense_variant | ENST00000344290 | MAPT | 6/15 | 11.7107 |
17:44061333 | rs138482356 | ACCTCCCAGG/A | 30 | 944 | 1 | 28 | 0.0318 | 0.021 | intron_variant&feature_truncation | ENST00000344290 | MAPT | 7.20763 | ||
17:44064208 | rs17572893 | G/A | 66 | 282 | 19 | 28 | 0.234 | intron_variant | ENST00000344290 | MAPT | 2.79078 | |||
17:44064293 | rs558531243 | C/G | 1 | 304 | 0 | 1 | 0.0033 | intron_variant | ENST00000344290 | MAPT | 13.3947 | |||
17:44064334 | rs62063793 | T/C | 235 | 950 | 41 | 153 | 0.2474 | intron_variant | ENST00000344290 | MAPT | 13.7895 | |||
17:44064341 | C/CAGAAAGCCAGCTGTGGTGA | 1 | 952 | 0 | 1 | 0.0011 | intron_variant&feature_elongation | ENST00000344290 | MAPT | 13.4716 | ||||
17:44064443 | C/T | 1 | 954 | 0 | 1 | 0.001 | c.1164C>T | synonymous_variant | ENST00000344290 | MAPT | 7/15 | 16.826 | ||
17:44067382 | rs2258689 | T/C | 205 | 954 | 25 | 155 | 0.2149 | 0.275 | p.Tyr441His | missense_variant | ENST00000344290 | MAPT | 8/15 | 23.4099 |
17:44067400 | rs10445337 | T/C | 238 | 954 | 43 | 152 | 0.2495 | 0.145 | p.Ser447Pro | missense_variant | ENST00000344290 | MAPT | 8/15 | 23.1677 |
17:44067508 | rs79447161 | A/G | 154 | 646 | 28 | 98 | 0.2384 | intron_variant | ENST00000344290 | MAPT | 14.1486 | |||
17:44068850 | rs143624519 | G/A | 1 | 954 | 0 | 1 | 0.001 | 0.001334 | p.Ala469Thr | missense_variant | ENST00000344290 | MAPT | 9/15 | 12.5419 |
17:44068924 | rs1052551 | G/A | 238 | 954 | 44 | 150 | 0.2495 | 0.144 | c.1479G>A | synonymous_variant | ENST00000344290 | MAPT | 9/15 | 10.9193 |
17:44068928 | rs63750612 | G/A | 1 | 954 | 0 | 1 | 0.001 | 0.004209 | p.Ala495Thr | missense_variant | ENST00000344290 | MAPT | 9/15 | 10.087 |
17:44071089 | rs17573175 | C/G | 71 | 298 | 16 | 39 | 0.2383 | intron_variant | ENST00000344290 | MAPT | 4.22483 | |||
17:44071294 | rs62063845 | T/C | 238 | 954 | 43 | 152 | 0.2495 | 0.12 | c.1512T>C | synonymous_variant | ENST00000344290 | MAPT | 10/15 | 27.7631 |
17:44073739 | rs62063850 | G/A | 140 | 740 | 33 | 74 | 0.1892 | 0.141 | intron_variant | ENST00000344290 | MAPT | 14.3797 | ||
17:44073889 | rs1052553 | A/G | 220 | 946 | 40 | 140 | 0.2326 | 0.144 | c.1686A>G | synonymous_variant | ENST00000344290 | MAPT | 11/15 | 12.9947 |
17:44073923 | rs63750096 | G/A | 2 | 954 | 0 | 2 | 0.0021 | 0.0007578 | p.Ala574Thr | missense_variant | ENST00000344290 | MAPT | 11/15 | 12.521 |
17:44073973 | rs17652121 | T/C | 226 | 946 | 44 | 138 | 0.2389 | 0.145 | c.1770T>C | synonymous_variant | ENST00000344290 | MAPT | 11/15 | 11.1829 |
17:44074018 | rs11568305 | G/A | 40 | 932 | 2 | 36 | 0.0429 | 0.035 | c.1815G>A | synonymous_variant | ENST00000344290 | MAPT | 11/15 | 7.88519 |
17:44074045 | rs749726538 | C/T | 1 | 938 | 0 | 1 | 0.0011 | 0.0001071 | intron_variant | ENST00000344290 | MAPT | 6.15672 | ||
17:44074048 | rs769218427 | C/A | 2 | 936 | 1 | 0 | 0.0021 | 0.000008242 | intron_variant | ENST00000344290 | MAPT | 5.99466 | ||
17:44074070 | rs150660024 | C/T | 6 | 930 | 0 | 6 | 0.0065 | intron_variant | ENST00000344290 | MAPT | 4.8043 | |||
17:44074071 | rs758167709 | G/A | 2 | 930 | 0 | 2 | 0.0022 | 0.0001731 | intron_variant | ENST00000344290 | MAPT | 4.74301 | ||
17:44076466 | rs62063856 | A/G | 73 | 300 | 17 | 39 | 0.2433 | intron_variant | ENST00000344290 | MAPT | 4.43667 | |||
17:44076665 | rs62063857 | A/G | 190 | 860 | 46 | 98 | 0.2209 | 0.145 | intron_variant | ENST00000344290 | MAPT | 17.4628 | ||
17:44076727 | rs140271686 | G/T | 1 | 916 | 0 | 1 | 0.0011 | intron_variant | ENST00000344290 | MAPT | 11.2751 | |||
17:44076968 | rs748102981 | A/C | 1 | 954 | 0 | 1 | 0.001 | 0.00009102 | intron_variant | ENST00000344290 | MAPT | 17.1027 | ||
17:44077013 | rs372382887 | C/A | 1 | 954 | 0 | 1 | 0.001 | 0.00001655 | intron_variant | ENST00000344290 | MAPT | 13.8868 | ||
17:44077044 | rs71375329 | T/C | 930 | 932 | 464 | 2 | 0.9979 | 0.989 | intron_variant | ENST00000344290 | MAPT | 15.6674 | ||
17:44087629 | rs3744460 | C/A | 4 | 954 | 0 | 4 | 0.0042 | 0.032 | intron_variant | ENST00000344290 | MAPT | 16.6887 | ||
17:44087637 | G/T | 2 | 954 | 0 | 2 | 0.0021 | intron_variant | ENST00000344290 | MAPT | 17.1405 | ||||
17:44087797 | rs63751443 | G/A | 3 | 952 | 0 | 3 | 0.0032 | 0.001357 | intron_variant | ENST00000344290 | MAPT | 17.7017 | ||
17:44087845 | rs140777094 | G/A | 1 | 946 | 0 | 1 | 0.0011 | intron_variant | ENST00000344290 | MAPT | 13.3097 | |||
17:44091548 | rs760689578 | GTCTC/G | 1 | 944 | 0 | 1 | 0.0011 | intron_variant&feature_truncation | ENST00000344290 | MAPT | 16.1345 | |||
17:44091724 | rs75534191 | G/A | 238 | 954 | 43 | 152 | 0.2495 | 0.144 | intron_variant | ENST00000344290 | MAPT | 20.0178 | ||
17:44091780 | rs66499584 | G/A | 154 | 894 | 15 | 124 | 0.1723 | intron_variant | ENST00000344290 | MAPT | 9.7953 | |||
17:44096097 | G/A | 1 | 954 | 0 | 1 | 0.001 | splice_donor_variant | ENST00000344290 | MAPT | 16.2945 | ||||
17:44096098 | T/TTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCC | 1 | 954 | 0 | 1 | 0.001 | splice_region_variant&intron_variant&feature_elongation | ENST00000344290 | MAPT | 16.2788 | ||||
17:44101534 | G/GGA | 1 | 952 | 0 | 1 | 0.0011 | frameshift_variant&feature_elongation | ENST00000344290 | MAPT | 15/15 | 17.3025 | |||
17:44101535 | T/TTACAAGGATGACGAC | 1 | 952 | 0 | 1 | 0.0011 | p.LeuGlnGlyTerArgArg | inframe_insertion&stop_retained_variant | ENST00000344290 | MAPT | 15/15 | 17.3225 | ||
17:44101563 | rs9468 | T/C | 238 | 954 | 43 | 152 | 0.2495 | 0.145 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 19.2956 | |
17:44101582 | G/T | 1 | 950 | 0 | 1 | 0.0011 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 17.1432 | |||
17:44101591 | GA/GAA | 1 | 950 | 0 | 1 | 0.0011 | 3_prime_UTR_variant&feature_elongation | ENST00000344290 | MAPT | 15/15 | 15.7516 | |||
17:44101601 | rs564954259 | GAAT/G | 2 | 948 | 0 | 2 | 0.0021 | 3_prime_UTR_variant&feature_truncation | ENST00000344290 | MAPT | 15/15 | 15.1825 | ||
17:44101775 | rs147091683 | A/AT | 130 | 564 | 22 | 86 | 0.2305 | 3_prime_UTR_variant&feature_elongation | ENST00000344290 | MAPT | 15/15 | 15.8316 | ||
17:44101778 | rs55661512 | T/TA | 2 | 570 | 0 | 2 | 0.0035 | 3_prime_UTR_variant&feature_elongation | ENST00000344290 | MAPT | 15/15 | 15.9877 | ||
17:44101849 | rs147268270 | T/TC | 129 | 572 | 23 | 83 | 0.2255 | 3_prime_UTR_variant&feature_elongation | ENST00000344290 | MAPT | 15/15 | 13.6678 | ||
17:44101871 | rs8712 | A/G | 131 | 604 | 23 | 85 | 0.2169 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 12.2815 | ||
17:44102001 | rs17574005 | G/A | 13 | 620 | 1 | 11 | 0.021 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 11.8081 | ||
17:44102196 | rs766310705 | C/A | 1 | 614 | 0 | 1 | 0.0016 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 16.4853 | ||
17:44102443 | rs141412361 | C/CCT | 136 | 626 | 24 | 88 | 0.2173 | 3_prime_UTR_variant&feature_elongation | ENST00000344290 | MAPT | 15/15 | 23.1214 | ||
17:44102498 | A/G | 1 | 638 | 0 | 1 | 0.0016 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 20.0564 | |||
17:44102604 | rs1052587 | T/C | 136 | 630 | 25 | 86 | 0.2159 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 19.1492 | ||
17:44102638 | rs1052590 | A/G | 141 | 626 | 27 | 87 | 0.2252 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 21.7316 | ||
17:44102682 | rs5820605 | C/CT | 263 | 638 | 59 | 145 | 0.4122 | 3_prime_UTR_variant&feature_elongation | ENST00000344290 | MAPT | 15/15 | 32.8997 | ||
17:44102689 | rs1052594 | G/C | 148 | 640 | 26 | 96 | 0.2313 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 29.4234 | ||
17:44102692 | rs756410844 | G/A | 1 | 640 | 0 | 1 | 0.0016 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 29.7953 | ||
17:44102741 | rs796099212 | TCA/T | 148 | 638 | 29 | 90 | 0.232 | 3_prime_UTR_variant&feature_truncation | ENST00000344290 | MAPT | 15/15 | 32.9483 | ||
17:44102746 | C/T | 1 | 646 | 0 | 1 | 0.0015 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 24.6115 | |||
17:44102828 | rs574927357 | C/A | 1 | 636 | 0 | 1 | 0.0016 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 23.3616 | ||
17:44102865 | rs17574040 | A/C | 150 | 636 | 30 | 90 | 0.2358 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 26.6635 | ||
17:44102933 | rs16940799 | T/C | 138 | 622 | 24 | 90 | 0.2219 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 35.6093 | ||
17:44103258 | rs186042163 | C/T | 1 | 650 | 0 | 1 | 0.0015 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 21.5477 | ||
17:44103296 | rs7687 | T/C | 152 | 648 | 29 | 94 | 0.2346 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 21.9306 | ||
17:44103445 | rs71760839 | TAG/T | 85 | 570 | 6 | 73 | 0.1491 | 3_prime_UTR_variant&feature_truncation | ENST00000344290 | MAPT | 15/15 | 18.9965 | ||
17:44103449 | G/GA | 2 | 536 | 0 | 2 | 0.0037 | 3_prime_UTR_variant&feature_elongation | ENST00000344290 | MAPT | 15/15 | 19.9366 | |||
17:44103453 | AG/A | 2 | 528 | 0 | 2 | 0.0038 | 3_prime_UTR_variant&feature_truncation | ENST00000344290 | MAPT | 15/15 | 25.4053 | |||
17:44103454 | GAA/GAAAA | 7 | 482 | 0 | 7 | 0.0145 | 3_prime_UTR_variant&feature_elongation | ENST00000344290 | MAPT | 15/15 | 16.0747 | |||
17:44103454 | GAA/GAAA | 25 | 474 | 2 | 21 | 0.0527 | 3_prime_UTR_variant&feature_elongation | ENST00000344290 | MAPT | 15/15 | 16.0747 | |||
17:44103454 | GAA/GA | 65 | 460 | 0 | 65 | 0.1413 | 3_prime_UTR_variant&feature_truncation | ENST00000344290 | MAPT | 15/15 | 16.0747 | |||
17:44103454 | GAA/G | 5 | 482 | 0 | 5 | 0.0104 | 3_prime_UTR_variant&feature_truncation | ENST00000344290 | MAPT | 15/15 | 16.0747 | |||
17:44103454 | GAA/AAA | 74 | 480 | 0 | 74 | 0.1542 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 16.0747 | |||
17:44103616 | rs17652748 | C/T | 141 | 626 | 27 | 87 | 0.2252 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 19.3323 | ||
17:44103704 | rs16940802 | G/A | 17 | 638 | 0 | 17 | 0.0266 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 19.5078 | ||
17:44103774 | T/G | 50 | 630 | 0 | 50 | 0.0794 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 15.5317 | |||
17:44103825 | rs75010486 | T/C | 140 | 638 | 25 | 90 | 0.2194 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 18.406 | ||
17:44103826 | rs16940806 | G/A | 140 | 638 | 25 | 90 | 0.2194 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 18.5188 | ||
17:44103927 | rs35134656 | C/CT | 141 | 626 | 26 | 89 | 0.2252 | 3_prime_UTR_variant&feature_elongation | ENST00000344290 | MAPT | 15/15 | 31.6518 | ||
17:44104151 | rs375986662 | C/CCAT | 4 | 650 | 0 | 4 | 0.0062 | 3_prime_UTR_variant&feature_elongation | ENST00000344290 | MAPT | 15/15 | 20.7615 | ||
17:44104274 | G/C | 2 | 586 | 1 | 0 | 0.0034 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 21.8686 | |||
17:44104278 | rs5820606 | TG/T | 141 | 618 | 27 | 87 | 0.2282 | 3_prime_UTR_variant&feature_truncation | ENST00000344290 | MAPT | 15/15 | 21.5097 | ||
17:44104343 | rs2158257 | A/C | 139 | 624 | 25 | 89 | 0.2228 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 22.2596 | ||
17:44104347 | rs2158256 | G/A | 28 | 636 | 3 | 22 | 0.044 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 22.1069 | ||
17:44104410 | rs568475466 | TCTC/T | 141 | 624 | 26 | 89 | 0.226 | 3_prime_UTR_variant&feature_truncation | ENST00000344290 | MAPT | 15/15 | 31.2051 | ||
17:44104509 | rs17574228 | T/C | 135 | 630 | 23 | 89 | 0.2143 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 26.154 | ||
17:44104576 | rs796853188 | CCTT/C | 140 | 600 | 26 | 88 | 0.2333 | 3_prime_UTR_variant&feature_truncation | ENST00000344290 | MAPT | 15/15 | 22.4 | ||
17:44104592 | G/A | 1 | 608 | 0 | 1 | 0.0016 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 19.4178 | |||
17:44104612 | rs35853889 | T/TG | 98 | 614 | 7 | 84 | 0.1596 | 3_prime_UTR_variant&feature_elongation | ENST00000344290 | MAPT | 15/15 | 23.3355 | ||
17:44104675 | T/C | 1 | 630 | 0 | 1 | 0.0016 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 19.6381 | |||
17:44104889 | A/G | 1 | 632 | 0 | 1 | 0.0016 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 17.4842 | |||
17:44104972 | rs186977284 | T/C | 3 | 630 | 0 | 3 | 0.0048 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 18.4143 | ||
17:44105385 | rs114213384 | A/G | 3 | 624 | 0 | 3 | 0.0048 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 18.5032 | ||
17:44105395 | rs7521 | A/G | 332 | 602 | 94 | 144 | 0.5515 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 25.7209 | ||
17:44105555 | A/G | 2 | 528 | 0 | 2 | 0.0038 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 8.7178 | |||
17:44105559 | TG/GG | 30 | 476 | 1 | 28 | 0.063 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 9.67857 | |||
17:44105559 | TG/T | 3 | 476 | 0 | 3 | 0.0063 | 3_prime_UTR_variant&feature_truncation | ENST00000344290 | MAPT | 15/15 | 9.67857 | |||
17:44105569 | G/C | 10 | 546 | 1 | 8 | 0.0183 | 3_prime_UTR_variant | ENST00000344290 | MAPT | 15/15 | 6.66483 | |||
17:44105727 | rs117379709 | G/A | 7 | 546 | 0 | 7 | 0.0128 | downstream_gene_variant | ENST00000344290 | MAPT | 4.99634 | |||
17:44105772 | rs552006530 | C/T | 2 | 506 | 1 | 0 | 0.004 | downstream_gene_variant | ENST00000344290 | MAPT | 2.37549 | |||
17:44107290 | CT/C | 5 | 592 | 0 | 5 | 0.0084 | downstream_gene_variant | ENST00000344290 | MAPT | 9.84966 | ||||
17:44107290 | CT/CTT | 2 | 592 | 1 | 0 | 0.0034 | downstream_gene_variant | ENST00000344290 | MAPT | 9.84966 | ||||
17:44107317 | rs769319125 | CCTT/C | 2 | 580 | 0 | 2 | 0.0034 | downstream_gene_variant | ENST00000344290 | MAPT | 12.1655 | |||
17:44107321 | CTTT/CT | 1 | 564 | 0 | 1 | 0.0018 | downstream_gene_variant | ENST00000344290 | MAPT | 11.3103 | ||||
17:44107321 | CTTT/CTTTT | 5 | 564 | 0 | 5 | 0.0089 | downstream_gene_variant | ENST00000344290 | MAPT | 11.3103 | ||||
17:44107321 | CTTT/CTT | 144 | 562 | 22 | 100 | 0.2562 | downstream_gene_variant | ENST00000344290 | MAPT | 11.3103 | ||||
17:44107487 | rs67641084 | GT/GTT | 2 | 568 | 0 | 2 | 0.0035 | downstream_gene_variant | ENST00000344290 | MAPT | 17.3151 | |||
17:44107487 | rs67641084 | GT/G | 135 | 566 | 23 | 89 | 0.2385 | downstream_gene_variant | ENST00000344290 | MAPT | 17.3151 | |||
17:44107503 | TTTTG/T | 1 | 562 | 0 | 1 | 0.0018 | downstream_gene_variant | ENST00000344290 | MAPT | 18.0658 | ||||
17:44107509 | TTTTG/T | 2 | 552 | 1 | 0 | 0.0036 | downstream_gene_variant | ENST00000344290 | MAPT | 18.3877 | ||||
17:44107513 | GTT/GTTT | 3 | 564 | 0 | 3 | 0.0053 | downstream_gene_variant | ENST00000344290 | MAPT | 17.0603 | ||||
17:44107513 | GTT/GT | 134 | 564 | 23 | 88 | 0.2376 | downstream_gene_variant | ENST00000344290 | MAPT | 17.0603 | ||||
17:44107606 | rs140510364 | A/AT | 131 | 570 | 23 | 85 | 0.2298 | downstream_gene_variant | ENST00000344290 | MAPT | 25.7632 | |||
17:44107646 | rs137970866 | A/C | 5 | 574 | 1 | 3 | 0.0087 | downstream_gene_variant | ENST00000344290 | MAPT | 26.0192 | |||
17:44107674 | rs751844327 | A/C | 1 | 570 | 0 | 1 | 0.0018 | downstream_gene_variant | ENST00000344290 | MAPT | 26.407 | |||
17:44107738 | CAA/CAAA | 19 | 594 | 0 | 19 | 0.032 | downstream_gene_variant | ENST00000344290 | MAPT | 26.2896 | ||||
17:44107815 | rs11870461 | G/C | 7 | 622 | 0 | 7 | 0.0113 | downstream_gene_variant | ENST00000344290 | MAPT | 24.0916 | |||
17:44107851 | G/T | 1 | 638 | 0 | 1 | 0.0016 | downstream_gene_variant | ENST00000344290 | MAPT | 23.9279 | ||||
17:44107888 | rs150500194 | G/C | 6 | 628 | 0 | 6 | 0.0096 | downstream_gene_variant | ENST00000344290 | MAPT | 25.0621 | |||
17:44107956 | GAAA/GAAAA | 122 | 594 | 1 | 120 | 0.2054 | downstream_gene_variant | ENST00000344290 | MAPT | 22.6582 | ||||
17:44107956 | GAAA/GA | 4 | 594 | 0 | 4 | 0.0067 | downstream_gene_variant | ENST00000344290 | MAPT | 22.6582 | ||||
17:44107956 | GAAA/GAA | 101 | 594 | 0 | 101 | 0.17 | downstream_gene_variant | ENST00000344290 | MAPT | 22.6582 | ||||
17:44107956 | GAAA/G | 1 | 594 | 0 | 1 | 0.0017 | downstream_gene_variant | ENST00000344290 | MAPT | 22.6582 | ||||
17:44108100 | rs7350928 | C/T | 146 | 640 | 26 | 94 | 0.2281 | downstream_gene_variant | ENST00000344290 | MAPT | 24.9234 | |||
17:44108202 | rs17574361 | A/G | 147 | 640 | 28 | 91 | 0.2297 | downstream_gene_variant | ENST00000344290 | MAPT | 31.4578 | |||
17:44108295 | rs776007238 | C/T | 1 | 642 | 0 | 1 | 0.0016 | downstream_gene_variant | ENST00000344290 | MAPT | 21.3489 | |||
17:44108332 | C/T | 1 | 630 | 0 | 1 | 0.0016 | downstream_gene_variant | ENST00000344290 | MAPT | 21.5095 | ||||
17:44108355 | rs17652961 | G/A | 142 | 638 | 25 | 92 | 0.2226 | downstream_gene_variant | ENST00000344290 | MAPT | 22.8307 | |||
17:44108482 | rs113448888 | A/AGCCCTCT | 137 | 632 | 26 | 85 | 0.2168 | downstream_gene_variant | ENST00000344290 | MAPT | 21.7627 | |||
17:44108625 | rs140200874 | G/A | 1 | 624 | 0 | 1 | 0.0016 | downstream_gene_variant | ENST00000344290 | MAPT | 11.9119 | |||
17:44108906 | rs34579536 | A/G | 236 | 952 | 42 | 152 | 0.2479 | 0.143 | downstream_gene_variant | ENST00000344290 | MAPT | 23.2721 | ||
17:44109474 | rs7220988 | G/A | 357 | 954 | 68 | 221 | 0.3742 | 0.377 | downstream_gene_variant | ENST00000344290 | MAPT | 19.2442 | ||
17:44109717 | rs367992334 | G/A | 1 | 912 | 0 | 1 | 0.0011 | 0.0004358 | downstream_gene_variant | ENST00000344290 | MAPT | 8.47259 | ||
17:44109755 | rs370056222 | T/C | 1 | 774 | 0 | 1 | 0.0013 | downstream_gene_variant | ENST00000344290 | MAPT | 8.4354 | |||
17:44109769 | rs1076222 | C/G | 84 | 304 | 15 | 54 | 0.2763 | downstream_gene_variant | ENST00000344290 | MAPT | 17.9408 | |||
17:44109843 | rs1078997 | A/G | 40 | 294 | 5 | 30 | 0.1361 | downstream_gene_variant | ENST00000344290 | MAPT | 3.09864 | |||
17:44110532 | rs36076725 | G/A | 239 | 954 | 43 | 153 | 0.2505 | 0.136 | downstream_gene_variant | ENST00000344290 | MAPT | 26.1782 | ||
17:44110541 | rs35833914 | G/A | 239 | 954 | 43 | 153 | 0.2505 | 0.136 | downstream_gene_variant | ENST00000344290 | MAPT | 26.9937 | ||
17:44110670 | rs4597358 | C/G | 226 | 918 | 41 | 144 | 0.2462 | downstream_gene_variant | ENST00000344290 | MAPT | 27.2222 |