HEX (Healthy Exomes)

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Region: 1:227063088-227085646

Gene: PSEN2

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  
1:227063088 rs149590162 C/T 1 646 0 1 0.0015 5_prime_UTR_variant ENST00000366783 PSEN2 3/13 11.8251
1:227063229 rs7961 C/T 1 628 0 1 0.0016 5_prime_UTR_variant ENST00000366783 PSEN2 3/13 10.4825
1:227063313 rs556475273 G/A 2 594 0 2 0.0034 intron_variant ENST00000366783 PSEN2 5.98148
1:227068246 AGACAGCGATCACTCAGCCTCTGGACAGCGATCACTCAGCCTCTG/AGACAGCGATCACTCAGCCTCTGGACAGCGATCACTCAGCCTCTGGACAGCGATCACTCAGCCTCTG 147 270 70 7 0.5444 intron_variant&feature_elongation ENST00000366783 PSEN2 4.40511
1:227068246 AGACAGCGATCACTCAGCCTCTGGACAGCGATCACTCAGCCTCTG/AGACAGCGATCACTCAGCCTCTG 3 274 0 3 0.0109 intron_variant&feature_truncation ENST00000366783 PSEN2 4.40511
1:227068309 rs202112948 T/G 1 304 0 1 0.0033 0.0001199 intron_variant ENST00000366783 PSEN2 18.6184
1:227068322 rs200137699 A/C 3 304 0 3 0.0099 0.001051 intron_variant ENST00000366783 PSEN2 21.1151
1:227068398 rs111567390 G/T 2 304 0 2 0.0066 0.04 intron_variant ENST00000366783 PSEN2 20.6711
1:227068472 rs79540408 G/A 1 304 0 1 0.0033 0.015 intron_variant ENST00000366783 PSEN2 19.8914
1:227069677 rs11405 T/C 703 954 254 195 0.7369 0.76 c.69T>C synonymous_variant ENST00000366783 PSEN2 4/13 32.3564
1:227069737 rs6759 C/T 483 952 120 243 0.5074 0.498 c.129C>T synonymous_variant ENST00000366783 PSEN2 4/13 14.4832
1:227071364 rs1295643 G/A 475 938 124 227 0.5064 0.482 intron_variant ENST00000366783 PSEN2 8.06823
1:227071377 rs1295644 T/C 681 938 247 187 0.726 0.709 intron_variant ENST00000366783 PSEN2 9.02559
1:227071383 rs59683545 C/T 1 942 0 1 0.0011 0.011 intron_variant ENST00000366783 PSEN2 9.51592
1:227071429 rs139332886 C/T 1 954 0 1 0.001 0.00014 c.165C>T synonymous_variant ENST00000366783 PSEN2 5/13 12.5356
1:227071448 rs150400387 C/T 1 956 0 1 0.001 0.0001647 p.Arg62Cys missense_variant ENST00000366783 PSEN2 5/13 13.4728
1:227071449 rs58973334 G/A 1 956 0 1 0.001 0.009884 p.Arg62His missense_variant ENST00000366783 PSEN2 5/13 13.5732
1:227071475 rs140501902 C/T 3 956 0 3 0.0031 0.003352 p.Arg71Trp missense_variant ENST00000366783 PSEN2 5/13 14.9843
1:227071525 rs1046240 C/T 492 956 121 250 0.5146 0.499 c.261C>T synonymous_variant ENST00000366783 PSEN2 5/13 30.8494
1:227071571 G/A 1 956 0 1 0.001 p.Val103Ile missense_variant ENST00000366783 PSEN2 5/13 15.8013
1:227071663 A/G 1 598 0 1 0.0017 intron_variant ENST00000366783 PSEN2 3.89967
1:227071670 rs767091693 A/G 3 376 0 3 0.008 0.0005862 intron_variant ENST00000366783 PSEN2 3.85372
1:227071676 rs370626639 T/G 14 422 4 6 0.0332 intron_variant ENST00000366783 PSEN2 3.23697
1:227071703 rs12057618 A/C 1 588 0 1 0.0017 intron_variant ENST00000366783 PSEN2 1.83333
1:227073208 rs192142511 G/A 1 952 0 1 0.0011 0.0004201 intron_variant ENST00000366783 PSEN2 14.9664
1:227073248 rs148996705 G/A 2 954 0 2 0.0021 0.001194 c.366G>A synonymous_variant ENST00000366783 PSEN2 6/13 17.3711
1:227073271 rs63750197 C/T 2 956 0 2 0.0021 0.0006342 p.Ser130Leu missense_variant ENST00000366783 PSEN2 6/13 18.2082
1:227073410 rs2236910 G/C 701 956 254 193 0.7333 0.759 intron_variant ENST00000366783 PSEN2 32.5157
1:227073410 rs2236910 G/T 1 956 0 1 0.001 0.0001483 intron_variant ENST00000366783 PSEN2 32.5157
1:227073420 rs144791481 G/A 4 956 0 4 0.0042 0.001548 intron_variant ENST00000366783 PSEN2 21.296
1:227075671 rs114816603 G/A 1 304 0 1 0.0033 intron_variant ENST00000366783 PSEN2 18.5493
1:227075916 rs111910427 G/A 3 954 0 3 0.0031 intron_variant ENST00000366783 PSEN2 15.5304
1:227075920 rs149734051 A/G 10 952 0 10 0.0105 intron_variant ENST00000366783 PSEN2 15.2374
1:227075939 rs1800679 C/T 13 942 0 13 0.0138 intron_variant ENST00000366783 PSEN2 12.4904
1:227075950 rs113439784 G/C 2 892 0 2 0.0022 intron_variant ENST00000366783 PSEN2 10.3083
1:227075956 rs780067597 C/T 1 888 0 1 0.0011 intron_variant ENST00000366783 PSEN2 9.5732
1:227076442 G/A 1 904 0 1 0.0011 intron_variant ENST00000366783 PSEN2 9.21128
1:227076671 rs61730652 T/C 7 956 0 7 0.0073 0.013 c.708T>C synonymous_variant ENST00000366783 PSEN2 8/13 17.659
1:227076719 rs147702142 G/C 6 954 0 6 0.0063 0.005667 c.756G>C synonymous_variant ENST00000366783 PSEN2 8/13 15.1509
1:227076735 rs148238688 G/A 1 954 0 1 0.001 0.0001071 p.Ala258Thr missense_variant ENST00000366783 PSEN2 8/13 12.9979
1:227076816 rs7539119 C/A 1 624 0 1 0.0016 intron_variant ENST00000366783 PSEN2 9.86699
1:227077646 rs113061270 G/C 1 918 0 1 0.0011 intron_variant ENST00000366783 PSEN2 6.89978
1:227077691 rs143259081 G/C 2 952 0 2 0.0021 0.002487 intron_variant ENST00000366783 PSEN2 10.376
1:227077757 C/T 1 956 0 1 0.001 p.Pro270Leu missense_variant ENST00000366783 PSEN2 9/13 14.001
1:227077825 rs199689738 A/T 1 950 0 1 0.0011 0.00009884 p.Ile293Leu missense_variant ENST00000366783 PSEN2 9/13 12.8853
1:227078865 rs187967479 A/G 1 304 0 1 0.0033 intron_variant ENST00000366783 PSEN2 18.0395
1:227078875 rs114076393 G/A 2 304 0 2 0.0066 intron_variant ENST00000366783 PSEN2 18.4112
1:227078955 rs2802267 T/C 696 954 251 194 0.7296 0.755 intron_variant ENST00000366783 PSEN2 26.4853
1:227078995 rs6426553 G/T 2 956 0 2 0.0021 0.011 c.903G>T synonymous_variant ENST00000366783 PSEN2 10/13 16.9613
1:227079124 rs765461956 A/G 1 950 0 1 0.0011 intron_variant ENST00000366783 PSEN2 8.70632
1:227079301 rs7537037 G/C 1 304 0 1 0.0033 intron_variant ENST00000366783 PSEN2 17.1842
1:227079618 C/A 1 944 0 1 0.0011 intron_variant ENST00000366783 PSEN2 9.10487
1:227081622 rs10753428 A/G 636 898 235 166 0.7082 intron_variant ENST00000366783 PSEN2 9.88753
1:227081850 rs2855562 G/A 516 956 139 238 0.5397 0.572 intron_variant ENST00000366783 PSEN2 15.4153
1:227081867 G/C 1 952 0 1 0.0011 intron_variant ENST00000366783 PSEN2 11.854
1:227081883 rs551438819 T/C 1 954 0 1 0.001 intron_variant ENST00000366783 PSEN2 10.2642
1:227083060 rs180909178 C/T 2 938 0 2 0.0021 intron_variant ENST00000366783 PSEN2 12.2495
1:227083237 rs201922151 G/A 1 956 0 1 0.001 0.00004118 p.Arg435Gln missense_variant ENST00000366783 PSEN2 13/13 18.3201
1:227083249 rs63750110 A/C 1 956 0 1 0.001 0.00003295 p.Asp439Ala missense_variant ENST00000366783 PSEN2 13/13 18.4979
1:227083489 C/G 1 642 0 1 0.0016 3_prime_UTR_variant ENST00000366783 PSEN2 13/13 16.9237
1:227083550 rs8383 C/T 304 630 72 160 0.4825 3_prime_UTR_variant ENST00000366783 PSEN2 13/13 22.454
1:227083586 rs145129440 G/A 2 648 0 2 0.0031 3_prime_UTR_variant ENST00000366783 PSEN2 13/13 15.5972
1:227083657 rs202160009 C/T 1 636 0 1 0.0016 3_prime_UTR_variant ENST00000366783 PSEN2 13/13 15.9513
1:227083767 rs7962 G/C 13 614 0 13 0.0212 3_prime_UTR_variant ENST00000366783 PSEN2 13/13 15.0554
1:227085155 rs11802358 G/A 137 302 30 77 0.4536 downstream_gene_variant ENST00000366783 PSEN2 6.2947
1:227085394 rs114893547 A/G 3 304 0 3 0.0099 downstream_gene_variant ENST00000366783 PSEN2 19.102
1:227085462 rs1800672 T/C 64 304 9 46 0.2105 downstream_gene_variant ENST00000366783 PSEN2 33.3289
1:227085574 rs16846631 G/C 1 304 0 1 0.0033 downstream_gene_variant ENST00000366783 PSEN2 17.4836
1:227085584 C/T 1 304 0 1 0.0033 downstream_gene_variant ENST00000366783 PSEN2 16.9243
1:227085646 rs1800673 C/T 56 292 8 40 0.1918 downstream_gene_variant ENST00000366783 PSEN2 4.80137

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