HEX (Healthy Exomes)

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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   Number of Heterozygotes   Hex MAF   ExAC MAF   Consequence   Annotation   Ensembl Transcript ID Gene Exon/Total Exons Avg. Sample Read Depth  
21:27252898 C/A 1 586 0 1 0.0017 3_prime_UTR_variant ENST00000346798 APP 18/18 14.4181
21:27253248 T/C 2 574 0 2 0.0035 3_prime_UTR_variant ENST00000346798 APP 18/18 9.32056
21:27253253 A/C 2 578 0 2 0.0035 3_prime_UTR_variant ENST00000346798 APP 18/18 9.3564
21:27253257 G/C 2 576 0 2 0.0035 3_prime_UTR_variant ENST00000346798 APP 18/18 9.09896
21:27253262 G/C 1 580 0 1 0.0017 3_prime_UTR_variant ENST00000346798 APP 18/18 10.3534
21:27253263 T/C 1 578 0 1 0.0017 3_prime_UTR_variant ENST00000346798 APP 18/18 10.846
21:27253268 G/A 1 582 0 1 0.0017 3_prime_UTR_variant ENST00000346798 APP 18/18 11.8213
21:27253609 rs187940037 T/C 1 602 0 1 0.0017 3_prime_UTR_variant ENST00000346798 APP 18/18 16.6561
21:27253980 rs748508166 T/G 1 954 0 1 0.001 0.013 3_prime_UTR_variant ENST00000346798 APP 18/18 17.5776
21:27254077 rs145277462 G/A 1 950 0 1 0.0011 0.0003542 c.2217C>T synonymous_variant ENST00000346798 APP 18/18 12.2768
21:27254091 rs112965435 CAA/C 2 946 0 2 0.0021 intron_variant&feature_truncation ENST00000346798 APP 11.1987
21:27254140 rs41276546 A/C 16 644 0 16 0.0248 intron_variant ENST00000346798 APP 9.43012
21:27263945 rs367709245 GATACTT/G 1 930 0 1 0.0011 intron_variant&feature_truncation ENST00000346798 APP 9.35806
21:27264097 rs145564988 G/T 1 954 0 1 0.001 0.0005848 c.2148C>A synonymous_variant ENST00000346798 APP 17/18 17.9665
21:27264112 rs116650065 G/T 1 954 0 1 0.001 0.002702 c.2133C>A synonymous_variant ENST00000346798 APP 17/18 18.1551
21:27264121 rs148888161 G/A 2 954 0 2 0.0021 0.002043 c.2124C>T synonymous_variant ENST00000346798 APP 17/18 18.1635
21:27264249 A/G 1 920 0 1 0.0011 intron_variant ENST00000346798 APP 8.05435
21:27277240 rs45467193 T/A 27 926 3 21 0.0292 intron_variant ENST00000346798 APP 11.5205
21:27277278 rs45558740 C/T 30 952 2 26 0.0315 intron_variant ENST00000346798 APP 14.7857
21:27277464 rs76431353 G/C 6 954 0 6 0.0063 intron_variant ENST00000346798 APP 18.9686
21:27277552 rs75283659 G/A 1 302 0 1 0.0033 intron_variant ENST00000346798 APP 5.01656
21:27277578 A/AG 1 292 0 1 0.0034 intron_variant&feature_elongation ENST00000346798 APP 3.13699
21:27277580 GGCTTATCGCTATTGAT/G 1 292 0 1 0.0034 intron_variant&feature_truncation ENST00000346798 APP 3.03767
21:27277587 rs150759557 C/G 1 290 0 1 0.0034 intron_variant ENST00000346798 APP 2.62414
21:27283967 rs576217651 A/G 1 608 0 1 0.0016 intron_variant ENST00000346798 APP 5.22697
21:27283973 T/C 1 616 0 1 0.0016 intron_variant ENST00000346798 APP 5.59091
21:27284167 rs140304729 C/T 1 954 0 1 0.001 0.001293 p.Glu599Lys missense_variant ENST00000346798 APP 14/18 18.3658
21:27284320 rs764471537 ACAG/A 2 946 0 2 0.0021 0.0005123 intron_variant&feature_truncation ENST00000346798 APP 15.9334
21:27284369 rs766556511 A/C 3 884 0 3 0.0034 intron_variant ENST00000346798 APP 12.6527
21:27284393 rs45549639 G/A 1 304 0 1 0.0033 intron_variant ENST00000346798 APP 7.9671
21:27318014 rs115158165 C/G 1 296 0 1 0.0034 intron_variant ENST00000346798 APP 2.76013
21:27318253 rs778569741 T/C 1 304 0 1 0.0033 0.00007028 intron_variant ENST00000346798 APP 7.65132
21:27326756 rs2829996 T/A 276 304 127 22 0.9079 intron_variant ENST00000346798 APP 8.00987
21:27326827 A/ATG 1 942 0 1 0.0011 intron_variant&feature_elongation ENST00000346798 APP 13.1709
21:27326829 ATAACTCACTTCCT/A 1 942 0 1 0.0011 intron_variant&feature_truncation ENST00000346798 APP 13.2654
21:27326844 A/ATGT 1 944 0 1 0.0011 intron_variant&feature_elongation ENST00000346798 APP 14.1483
21:27326852 T/C 1 946 0 1 0.0011 intron_variant ENST00000346798 APP 14.5359
21:27326854 T/C 1 946 0 1 0.0011 intron_variant ENST00000346798 APP 14.6586
21:27326855 G/A 1 946 0 1 0.0011 intron_variant ENST00000346798 APP 14.6987
21:27326857 G/A 1 946 0 1 0.0011 intron_variant ENST00000346798 APP 14.8129
21:27326859 rs2829997 G/A 625 946 208 209 0.6607 0.596 intron_variant ENST00000346798 APP 26.6924
21:27326907 rs199586073 C/T 1 954 0 1 0.001 0.000008237 p.Val562Ile missense_variant ENST00000346798 APP 13/18 18.6247
21:27326977 rs45537238 A/G 2 954 0 2 0.0021 0.00724 c.1614T>C synonymous_variant ENST00000346798 APP 13/18 18.7851
21:27327076 CTTTTTTTT/CTTTTTTTTT 5 892 0 5 0.0056 intron_variant&feature_elongation ENST00000346798 APP 6.54708
21:27327076 CTTTTTTTT/CTTTTTTT 9 892 0 9 0.0101 intron_variant&feature_truncation ENST00000346798 APP 6.54708
21:27327082 T/A 1 614 0 1 0.0016 intron_variant ENST00000346798 APP 6.73778
21:27327100 rs417676 G/A 515 550 244 27 0.9364 intron_variant ENST00000346798 APP 5.77455
21:27327862 rs2251337 G/C 583 626 272 39 0.9313 intron_variant ENST00000346798 APP 11.3067
21:27327915 rs45454602 A/C 1 948 0 1 0.0011 0.004843 intron_variant ENST00000346798 APP 11.5222
21:27327918 rs45511695 A/G 37 948 2 33 0.039 0.031 intron_variant ENST00000346798 APP 12.2468
21:27328031 rs199681584 G/A 1 954 0 1 0.001 0.000008236 c.1497C>T synonymous_variant ENST00000346798 APP 12/18 18.1897
21:27328175 rs440666 T/C 220 304 79 62 0.7237 intron_variant ENST00000346798 APP 28.1447
21:27328235 rs45571934 T/C 1 304 0 1 0.0033 intron_variant ENST00000346798 APP 6.70724
21:27347359 rs201972591 G/A 1 938 0 1 0.0011 0.00003295 intron_variant ENST00000346798 APP 8.21002
21:27348173 C/A 1 952 0 1 0.0011 intron_variant ENST00000346798 APP 13.583
21:27348174 rs141296102 G/A 1 950 0 1 0.0011 intron_variant ENST00000346798 APP 13.7716
21:27348258 rs114675472 A/G 1 954 0 1 0.001 0.003838 intron_variant ENST00000346798 APP 18.8166
21:27348372 rs3737413 A/G 180 952 22 136 0.1891 0.255 intron_variant ENST00000346798 APP 21.6691
21:27348386 rs116447989 C/A 2 950 0 2 0.0021 0.003847 intron_variant ENST00000346798 APP 17.7579
21:27348447 rs3737414 A/G 46 274 8 30 0.1679 intron_variant ENST00000346798 APP 3.37226
21:27348460 rs3737415 T/G 59 258 14 31 0.2287 intron_variant ENST00000346798 APP 2.35659
21:27354603 rs45560833 C/A 2 946 0 2 0.0021 intron_variant ENST00000346798 APP 8.89535
21:27354666 rs201739783 T/C 1 954 0 1 0.001 c.1215A>G synonymous_variant ENST00000346798 APP 9/18 14.3878
21:27354868 rs45531734 C/T 1 934 0 1 0.0011 intron_variant ENST00000346798 APP 11.1745
21:27354870 T/A 1 922 0 1 0.0011 intron_variant ENST00000346798 APP 10.7289
21:27354871 A/AGAGAGGC 1 922 0 1 0.0011 intron_variant&feature_elongation ENST00000346798 APP 10.7267
21:27369779 rs199718816 G/A 1 954 0 1 0.001 0.0004695 intron_variant ENST00000346798 APP 14.2757
21:27369825 T/G 1 890 0 1 0.0011 intron_variant ENST00000346798 APP 12.7438
21:27369838 rs2051503 C/T 1 304 0 1 0.0033 intron_variant ENST00000346798 APP 16.5888
21:27372311 rs764443273 C/T 1 948 0 1 0.0011 0.000008237 intron_variant ENST00000346798 APP 13.5021
21:27382155 rs189705290 C/T 1 302 0 1 0.0033 0.0003849 intron_variant ENST00000346798 APP 3.48675
21:27382267 rs775148023 TAA/TA 29 304 0 29 0.0954 intron_variant&feature_truncation ENST00000346798 APP 23.102
21:27382267 rs775148023 TAA/T 1 304 0 1 0.0033 intron_variant&feature_truncation ENST00000346798 APP 23.102
21:27382267 rs775148023 TAA/TAAA 8 304 0 8 0.0263 intron_variant&feature_elongation ENST00000346798 APP 23.102
21:27382357 G/T 1 104 0 1 0.0096 intron_variant ENST00000346798 APP 114.365
21:27382362 rs11455808 A/AG 303 304 151 1 0.9967 intron_variant&feature_elongation ENST00000346798 APP 38.1217
21:27382417 rs2409166 C/G 304 304 152 0 1 intron_variant ENST00000346798 APP 15.0395
21:27394181 rs768084853 TGTGGTGGTG/TGTGGTG 1 304 0 1 0.0033 0.002281 p.Thr280del inframe_deletion ENST00000346798 APP 6/18 8.96053
21:27394339 rs755841034 C/T 1 304 0 1 0.0033 0.000008236 p.Val228Ile missense_variant ENST00000346798 APP 6/18 17.5658
21:27394367 rs199587668 G/T 1 304 0 1 0.0033 0.0006095 intron_variant ENST00000346798 APP 16.9605
21:27423376 rs149995579 G/A 1 954 0 1 0.001 0.0000906 p.Ala201Val missense_variant ENST00000346798 APP 5/18 17.3648
21:27423386 rs145081708 A/G 1 954 0 1 0.001 0.0004695 p.Ser198Pro missense_variant ENST00000346798 APP 5/18 17.6887
21:27423547 rs41276550 A/T 9 932 1 7 0.0097 0.004638 intron_variant ENST00000346798 APP 13.9335
21:27423561 rs755219355 GTAAGAAAACTCCACA/TTAAGAAAACTCCACA 263 922 49 165 0.2852 0.253 intron_variant ENST00000346798 APP 13.5998
21:27423594 rs185139290 A/T 2 882 0 2 0.0023 intron_variant ENST00000346798 APP 9.50907
21:27425501 rs45484196 G/A 9 954 0 9 0.0094 0.004176 intron_variant ENST00000346798 APP 14.3407
21:27425676 GA/G 1 954 0 1 0.001 intron_variant&feature_truncation ENST00000346798 APP 18.7222
21:27425859 rs2830027 G/C 47 278 7 33 0.1691 intron_variant ENST00000346798 APP 2.64748
21:27484217 rs370377819 C/T 2 936 0 2 0.0021 intron_variant ENST00000346798 APP 12.0353
21:27512323 rs12482070 A/G 5 294 0 5 0.017 intron_variant ENST00000346798 APP 4.60884
21:27512328 rs12482071 A/G 5 294 0 5 0.017 intron_variant ENST00000346798 APP 5.37415
21:27512576 C/A 1 304 0 1 0.0033 intron_variant ENST00000346798 APP 17.7368
21:27542867 A/G 1 462 0 1 0.0022 intron_variant ENST00000346798 APP 12.5887
21:27543049 rs459543 C/G 16 432 0 16 0.037 upstream_gene_variant ENST00000346798 APP 11.0764
21:27543094 rs45476095 C/G 1 416 0 1 0.0024 upstream_gene_variant ENST00000346798 APP 7.26923
21:27543137 rs761755102 C/T 1 396 0 1 0.0025 upstream_gene_variant ENST00000346798 APP 4.25505

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