HEX (Healthy Exomes)
Search Hex
Search Results
Region: 21:27252898-27543137
Gene: APP
Available Transcripts
* canonical transcript
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SNP Position | rsID | Alleles | Allele Count | Allele Number | Number of Homozygotes | Hex MAF | ExAC MAF | Consequence | Annotation |
---|---|---|---|---|---|---|---|---|---|
21:27252898 | C/A | 1 | 586 | 0 | 0.0017 | 3_prime_UTR_variant | |||
21:27253248 | T/C | 2 | 574 | 0 | 0.0035 | 3_prime_UTR_variant | |||
21:27253253 | A/C | 2 | 578 | 0 | 0.0035 | 3_prime_UTR_variant | |||
21:27253257 | G/C | 2 | 576 | 0 | 0.0035 | 3_prime_UTR_variant | |||
21:27253262 | G/C | 1 | 580 | 0 | 0.0017 | 3_prime_UTR_variant | |||
21:27253263 | T/C | 1 | 578 | 0 | 0.0017 | 3_prime_UTR_variant | |||
21:27253268 | G/A | 1 | 582 | 0 | 0.0017 | 3_prime_UTR_variant | |||
21:27253609 | rs187940037 | T/C | 1 | 602 | 0 | 0.0017 | 3_prime_UTR_variant | ||
21:27253980 | rs748508166 | T/G | 1 | 954 | 0 | 0.001 | 0.013 | 3_prime_UTR_variant | |
21:27254077 | rs145277462 | G/A | 1 | 950 | 0 | 0.0011 | 0.0003542 | c.2217C>T | synonymous_variant |
21:27254091 | rs112965435 | CAA/C | 2 | 946 | 0 | 0.0021 | intron_variant&feature_truncation | ||
21:27254140 | rs41276546 | A/C | 16 | 644 | 0 | 0.0248 | intron_variant | ||
21:27263945 | rs367709245 | GATACTT/G | 1 | 930 | 0 | 0.0011 | intron_variant&feature_truncation | ||
21:27264097 | rs145564988 | G/T | 1 | 954 | 0 | 0.001 | 0.0005848 | c.2148C>A | synonymous_variant |
21:27264112 | rs116650065 | G/T | 1 | 954 | 0 | 0.001 | 0.002702 | c.2133C>A | synonymous_variant |
21:27264121 | rs148888161 | G/A | 2 | 954 | 0 | 0.0021 | 0.002043 | c.2124C>T | synonymous_variant |
21:27264249 | A/G | 1 | 920 | 0 | 0.0011 | intron_variant | |||
21:27277240 | rs45467193 | T/A | 27 | 926 | 3 | 0.0292 | intron_variant | ||
21:27277278 | rs45558740 | C/T | 30 | 952 | 2 | 0.0315 | intron_variant | ||
21:27277464 | rs76431353 | G/C | 6 | 954 | 0 | 0.0063 | intron_variant | ||
21:27277552 | rs75283659 | G/A | 1 | 302 | 0 | 0.0033 | intron_variant | ||
21:27277578 | A/AG | 1 | 292 | 0 | 0.0034 | intron_variant&feature_elongation | |||
21:27277580 | GGCTTATCGCTATTGAT/G | 1 | 292 | 0 | 0.0034 | intron_variant&feature_truncation | |||
21:27277587 | rs150759557 | C/G | 1 | 290 | 0 | 0.0034 | intron_variant | ||
21:27283967 | rs576217651 | A/G | 1 | 608 | 0 | 0.0016 | intron_variant | ||
21:27283973 | T/C | 1 | 616 | 0 | 0.0016 | intron_variant | |||
21:27284167 | rs140304729 | C/T | 1 | 954 | 0 | 0.001 | 0.001293 | p.Glu599Lys | missense_variant |
21:27284320 | rs764471537 | ACAG/A | 2 | 946 | 0 | 0.0021 | 0.0005123 | intron_variant&feature_truncation | |
21:27284369 | rs766556511 | A/C | 3 | 884 | 0 | 0.0034 | intron_variant | ||
21:27284393 | rs45549639 | G/A | 1 | 304 | 0 | 0.0033 | intron_variant | ||
21:27318014 | rs115158165 | C/G | 1 | 296 | 0 | 0.0034 | intron_variant | ||
21:27318253 | rs778569741 | T/C | 1 | 304 | 0 | 0.0033 | 0.00007028 | intron_variant | |
21:27326756 | rs2829996 | T/A | 276 | 304 | 127 | 0.9079 | intron_variant | ||
21:27326827 | A/ATG | 1 | 942 | 0 | 0.0011 | intron_variant&feature_elongation | |||
21:27326829 | ATAACTCACTTCCT/A | 1 | 942 | 0 | 0.0011 | intron_variant&feature_truncation | |||
21:27326844 | A/ATGT | 1 | 944 | 0 | 0.0011 | intron_variant&feature_elongation | |||
21:27326852 | T/C | 1 | 946 | 0 | 0.0011 | intron_variant | |||
21:27326854 | T/C | 1 | 946 | 0 | 0.0011 | intron_variant | |||
21:27326855 | G/A | 1 | 946 | 0 | 0.0011 | intron_variant | |||
21:27326857 | G/A | 1 | 946 | 0 | 0.0011 | intron_variant | |||
21:27326859 | rs2829997 | G/A | 625 | 946 | 208 | 0.6607 | 0.596 | intron_variant | |
21:27326907 | rs199586073 | C/T | 1 | 954 | 0 | 0.001 | 0.000008237 | p.Val562Ile | missense_variant |
21:27326977 | rs45537238 | A/G | 2 | 954 | 0 | 0.0021 | 0.00724 | c.1614T>C | synonymous_variant |
21:27327076 | CTTTTTTTT/CTTTTTTTTT | 5 | 892 | 0 | 0.0056 | intron_variant&feature_elongation | |||
21:27327076 | CTTTTTTTT/CTTTTTTT | 9 | 892 | 0 | 0.0101 | intron_variant&feature_truncation | |||
21:27327082 | T/A | 1 | 614 | 0 | 0.0016 | intron_variant | |||
21:27327100 | rs417676 | G/A | 515 | 550 | 244 | 0.9364 | intron_variant | ||
21:27327862 | rs2251337 | G/C | 583 | 626 | 272 | 0.9313 | intron_variant | ||
21:27327915 | rs45454602 | A/C | 1 | 948 | 0 | 0.0011 | 0.004843 | intron_variant | |
21:27327918 | rs45511695 | A/G | 37 | 948 | 2 | 0.039 | 0.031 | intron_variant | |
21:27328031 | rs199681584 | G/A | 1 | 954 | 0 | 0.001 | 0.000008236 | c.1497C>T | synonymous_variant |
21:27328175 | rs440666 | T/C | 220 | 304 | 79 | 0.7237 | intron_variant | ||
21:27328235 | rs45571934 | T/C | 1 | 304 | 0 | 0.0033 | intron_variant | ||
21:27347359 | rs201972591 | G/A | 1 | 938 | 0 | 0.0011 | 0.00003295 | intron_variant | |
21:27348173 | C/A | 1 | 952 | 0 | 0.0011 | intron_variant | |||
21:27348174 | rs141296102 | G/A | 1 | 950 | 0 | 0.0011 | intron_variant | ||
21:27348258 | rs114675472 | A/G | 1 | 954 | 0 | 0.001 | 0.003838 | intron_variant | |
21:27348372 | rs3737413 | A/G | 180 | 952 | 22 | 0.1891 | 0.255 | intron_variant | |
21:27348386 | rs116447989 | C/A | 2 | 950 | 0 | 0.0021 | 0.003847 | intron_variant | |
21:27348447 | rs3737414 | A/G | 46 | 274 | 8 | 0.1679 | intron_variant | ||
21:27348460 | rs3737415 | T/G | 59 | 258 | 14 | 0.2287 | intron_variant | ||
21:27354603 | rs45560833 | C/A | 2 | 946 | 0 | 0.0021 | intron_variant | ||
21:27354666 | rs201739783 | T/C | 1 | 954 | 0 | 0.001 | c.1215A>G | synonymous_variant | |
21:27354868 | rs45531734 | C/T | 1 | 934 | 0 | 0.0011 | intron_variant | ||
21:27354870 | T/A | 1 | 922 | 0 | 0.0011 | intron_variant | |||
21:27354871 | A/AGAGAGGC | 1 | 922 | 0 | 0.0011 | intron_variant&feature_elongation | |||
21:27369779 | rs199718816 | G/A | 1 | 954 | 0 | 0.001 | 0.0004695 | intron_variant | |
21:27369825 | T/G | 1 | 890 | 0 | 0.0011 | intron_variant | |||
21:27369838 | rs2051503 | C/T | 1 | 304 | 0 | 0.0033 | intron_variant | ||
21:27372311 | rs764443273 | C/T | 1 | 948 | 0 | 0.0011 | 0.000008237 | intron_variant | |
21:27382155 | rs189705290 | C/T | 1 | 302 | 0 | 0.0033 | 0.0003849 | intron_variant | |
21:27382267 | rs775148023 | TAA/TA | 29 | 304 | 0 | 0.0954 | intron_variant&feature_truncation | ||
21:27382267 | rs775148023 | TAA/T | 1 | 304 | 0 | 0.0033 | intron_variant&feature_truncation | ||
21:27382267 | rs775148023 | TAA/TAAA | 8 | 304 | 0 | 0.0263 | intron_variant&feature_elongation | ||
21:27382357 | G/T | 1 | 104 | 0 | 0.0096 | intron_variant | |||
21:27382362 | rs11455808 | A/AG | 303 | 304 | 151 | 0.9967 | intron_variant&feature_elongation | ||
21:27382417 | rs2409166 | C/G | 304 | 304 | 152 | 1 | intron_variant | ||
21:27394181 | rs768084853 | TGTGGTGGTG/TGTGGTG | 1 | 304 | 0 | 0.0033 | 0.002281 | p.Thr280del | inframe_deletion |
21:27394339 | rs755841034 | C/T | 1 | 304 | 0 | 0.0033 | 0.000008236 | p.Val228Ile | missense_variant |
21:27394367 | rs199587668 | G/T | 1 | 304 | 0 | 0.0033 | 0.0006095 | intron_variant | |
21:27423376 | rs149995579 | G/A | 1 | 954 | 0 | 0.001 | 0.0000906 | p.Ala201Val | missense_variant |
21:27423386 | rs145081708 | A/G | 1 | 954 | 0 | 0.001 | 0.0004695 | p.Ser198Pro | missense_variant |
21:27423547 | rs41276550 | A/T | 9 | 932 | 1 | 0.0097 | 0.004638 | intron_variant | |
21:27423561 | rs755219355 | GTAAGAAAACTCCACA/TTAAGAAAACTCCACA | 263 | 922 | 49 | 0.2852 | 0.253 | intron_variant | |
21:27423594 | rs185139290 | A/T | 2 | 882 | 0 | 0.0023 | intron_variant | ||
21:27425501 | rs45484196 | G/A | 9 | 954 | 0 | 0.0094 | 0.004176 | intron_variant | |
21:27425676 | GA/G | 1 | 954 | 0 | 0.001 | intron_variant&feature_truncation | |||
21:27425859 | rs2830027 | G/C | 47 | 278 | 7 | 0.1691 | intron_variant | ||
21:27484217 | rs370377819 | C/T | 2 | 936 | 0 | 0.0021 | intron_variant | ||
21:27512323 | rs12482070 | A/G | 5 | 294 | 0 | 0.017 | intron_variant | ||
21:27512328 | rs12482071 | A/G | 5 | 294 | 0 | 0.017 | intron_variant | ||
21:27512576 | C/A | 1 | 304 | 0 | 0.0033 | intron_variant | |||
21:27542867 | A/G | 1 | 462 | 0 | 0.0022 | intron_variant | |||
21:27543049 | rs459543 | C/G | 16 | 432 | 0 | 0.037 | upstream_gene_variant | ||
21:27543094 | rs45476095 | C/G | 1 | 416 | 0 | 0.0024 | upstream_gene_variant | ||
21:27543137 | rs761755102 | C/T | 1 | 396 | 0 | 0.0025 | upstream_gene_variant |
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