PSEN1
SNP - dbSNP
dbSNPTypeAllelesHetSe(het)Fxn-classGene NameAssemblyChr-posSequenceEntrez Gene
rs661snpA/G/T9.88509e-050.00702963 PSEN114 allele_origin=G(germline)/A(germline)14:73217225ACACAACCATAGCCT[A/G/T]TTTCGTAGCCATATT5663
rs7523snpA/G0.249320.249999utr-variant-3-primePSEN1GRCh38.p714:73220236TAAGGCAGCTCTGTC[A/G]TGGTAGCAGATGGTC5663
rs14428snpC/Tutr-variant-3-primePSEN1GRCh38.p714:73223268GAGGCACCCTGCTGC[C/T]CAAGGCTGTGGGAGA5663
rs165931snpC/T0.4421130.159977intron-variantPSEN1GRCh38.p714:73163562CTGTTTGTCACTTGA[C/T]TATTCTTAGAATATA5663
rs165932snpA/C0.4672380.123725intron-variantPSEN1GRCh38.p714:73198145TACTAATTCAATATC[A/C]TTCTCAAATACTTAC5663
rs165933snpC/T0.352070.228214intron-variantPSEN1GRCh38.p714:73198646TTGCTACTGCCACTA[C/T]CATAATTCAAACCCC5663
rs165934snpA/C0.4411580.161117intron-variantPSEN1GRCh38.p714:73206123GTTTTCCTTCTGGTT[A/C]CTTTTCAGGGACTAA5663
rs165935snpA/G0.4419770.16014utr-variant-3-prime, downstream-variant-500BPSEN1GRCh38.p714:73220436TCTGAGCTACTGTGT[A/G]GCAAAAGCAAAAACA5663
rs177286snpC/Gintron-variantPSEN1GRCh38.p714:73184195ggggtcagccccccg[C/G]ccggccagccgcccc5663
rs177412snpA/T0.008747350.0655527utr-variant-3-primePSEN1GRCh38.p714:73221080CCCAGGATATTTCTT[A/T]TAAGAACCTAACTTC5663
rs177413snpA/G0.2971280.245518intron-variantPSEN1GRCh38.p714:73216486gacgtgagccaccac[A/G]catggccTATCATCT5663
rs177414snpA/G0.008351410.0640778intron-variantPSEN1GRCh38.p714:73216260ccctaggccttaagc[A/G]accagtgatctgctt5663
rs177415snpA/C0.4410210.161279intron-variantPSEN1GRCh38.p714:73211255AAGACCAAGCCTATA[A/C]ACTAGTGATGGTAGA5663
rs177416snpC/T0.002535580.0355156intron-variantPSEN1GRCh38.p714:73206498TTTATTAGATAATAT[C/T]TTGATTTTTCAGGGT5663
rs177417snpC/T0.006369360.0560724intron-variantPSEN1GRCh38.p714:73205372cctgcctcagcctcc[C/T]gagtagctgggacta5663
rs177418snpC/T0.020160.0983543intron-variantPSEN1GRCh38.p714:73202628aaaattagccaggca[C/T]ggtggcgggcgccta5663
rs183338snpC/Tintron-variantPSEN1GRCh38.p714:73184180gccggccagccgccc[C/T]gtccgggagggaggt5663
rs184193snpC/Gintron-variantPSEN1GRCh38.p714:73184146ggggtcagccccccg[C/G]ccggccagccgccct5663
rs184194snpA/Gintron-variantPSEN1GRCh38.p714:73184107gagggaggtgggggg[A/G]tcagccccccgcccg5663
rs184195snpC/Tintron-variantPSEN1GRCh38.p714:73184093GATCAGCCCCCCGCc[C/T]ggccagccgccccgt5663
rs214260snpA/G0.3323370.236052intron-variantPSEN1GRCh38.p714:73195921CGAGATCAGAGTTTA[A/G]Gcttaggcaaataat5663
rs214261snpA/G0.2986510.24522intron-variantPSEN1GRCh38.p714:73195761tgggaggctgcttga[A/G]gctaggaggtcaaca5663
rs214262snpC/T0.2973820.245469intron-variantPSEN1GRCh38.p714:73195457ggctgggcgcagtgg[C/T]tcaagcctgtaatcc5663
rs214263snpC/G0.3325680.235971intron-variantPSEN1GRCh38.p714:73186207TTTTTAGTAGAGACA[C/G]AGTTTCTCCATGTTG5663
rs214264snpA/C/G0.006369360.0560724intron-variantPSEN1GRCh38.p714:73184543caggccagccgccct[A/C/G]tccgagagggaggtg5663
rs214265snpC/Tintron-variantPSEN1GRCh38.p714:73184076gccagccgccccgtc[C/T]gggagggaggtgggg5663
rs214266snpC/Tintron-variantPSEN1GRCh38.p714:73183996cctctgcccggccgc[C/T]cctactgggaagtga5663
rs214267snpC/G0.3325680.235971intron-variantPSEN1GRCh38.p714:73180466CTCTGGCAAGTTACT[C/G]AATCTCTGACTCAAA5663
rs214268snpC/T0.008747350.0655527intron-variantPSEN1GRCh38.p714:73176251TTAAAGTGGGGGAGG[C/T]GAATGCTTCCCAGCA5663
rs214269snpC/T0.2986510.24522intron-variantPSEN1GRCh38.p714:73173930actcctgggcccaag[C/T]gatcctcctgcctca5663
rs214270snpA/G0.020160.0983543intron-variantPSEN1GRCh38.p714:73166914AAGACCGAGGCTGGC[A/G]TTATAAAGGCATGGT5663
rs214271snpC/T0.2991580.245119intron-variantPSEN1GRCh38.p714:73165962ttcaagcaattctcc[C/T]gcgtcagcctcccga5663
rs214272snpC/G0.020160.0983543intron-variantPSEN1GRCh38.p714:73163850ataacaaaatcaaaa[C/G]ttcttaggctcatga5663
rs214273snpC/T0.2983980.245271intron-variantPSEN1GRCh38.p714:73149416TGCTGGAGTGGCCTT[C/T]CAGCCTTTTGTGACT5663
rs214274snpC/G0.2991580.245119intron-variantPSEN1GRCh38.p714:73148902CTCGTCGCCCAGGCT[C/G]GAGTGCAATGGCGCG5663
rs214275snpG/T0.020160.0983543intron-variantPSEN1GRCh38.p714:73144546GCCTCTTTATAAAAC[G/T]CCAAACCTGCCCCGT5663
rs214276snpC/T00intron-variantPSEN1GRCh38.p714:73142943GGGACAGAATCTACT[C/T]TGGTGTTTTTGCTCT5663
rs214277snpA/T0.1002310.200173intron-variantPSEN1GRCh38.p714:73139288gcccagccTTTTTTT[A/T]AAAAAAaaacgaagt5663
rs214278snpC/T0.2986510.24522intron-variantPSEN1GRCh38.p714:73138787attttttagtagaga[C/T]ggggtttcaccgtgt5663
rs214279snpC/G0.2981440.245321intron-variant, upstream-variant-2KBPSEN1GRCh38.p714:73137870tggtctcgaactcct[C/G]agctcaaggatccgc5663
rs214280snpC/T0.06148240.164198upstream-variant-2KBPSEN1GRCh38.p714:73134956AATCTGATTGCAGTC[C/T]GCTAATATTAATAGG5663
rs362339snpC/T0.05208250.152737intron-variantPSEN1GRCh38.p714:73147679CAGTTAGTTGAAAGT[C/T]GTGACAAATTAATAC5663
rs362340snpA/G0.1784650.239547intron-variantPSEN1GRCh38.p714:73172430GGGTTAGGTTTGGCA[A/G]CGTATTATAGAACAA5663
rs362341snpA/T0.218750.248039intron-variantPSEN1GRCh38.p714:73174750TCACACCTTGCCTAA[A/T]CTGGTAGCCACCATG5663
rs362342snpC/G0.1496650.228982intron-variantPSEN1GRCh38.p714:73196049ACAGAGCTTTGAGTT[C/G]CTTTTAAACAAAAGA5663
rs362343snpC/T0.1794250.239831intron-variantPSEN1GRCh38.p714:73212852AGCATATTTTCCAAC[C/T]AAGTTATTTTTGGTT5663
rs362344snpC/T0.4158910.18703utr-variant-3-primePSEN1GRCh38.p714:73223011AGTGATCCTTGTGAT[C/T]TTCTCACCTCTTTAA5663
rs362347snpA/C00intron-variantPSEN1GRCh38.p714:73146606ATGTGTAATGATTTG[A/C]ATGATACAAATATAA5663
rs362348snpC/G0.06335040.166319intron-variantPSEN1GRCh38.p714:73147509AATTTGGTCAGCATA[C/G]AAAAAGGAATGTTGA5663
rs362349snpG/T00intron-variantPSEN1GRCh38.p714:73147606TGAAAATGTTTGGTG[G/T]CTCAGGCGGTTCTAC5663
rs362350snpA/G0.1625810.234218intron-variantPSEN1GRCh38.p714:73164384AGTTTCATCTGGACA[A/G]TACCCTAAGAGGAGA5663
rs362351snpA/C0.02211410.102801intron-variantPSEN1GRCh38.p714:73164900TAAATTAAATCTGGA[A/C]AGCCAGTGAATCTGC5663
rs362352snpA/G00intron-variantPSEN1GRCh38.p714:73166249TTGGGGACTCTGAAT[A/G]AGCATATGATTGCCC5663
rs362353snpA/G0.03414080.126114intron-variantPSEN1GRCh38.p714:73166789TGATGGGTGGTATAT[A/G]TATTTCTACCTTTTA5663
rs362354snpA/G0.02562150.110247intron-variantPSEN1GRCh38.p714:73170486CTTGGAGCTGCAGCC[A/G]GTAAACAAGTTTTCA5663
rs362355snpC/T0.1895760.242588intron-variantPSEN1GRCh38.p714:73171253CTGCAGAAGTATGTT[C/T]CCTGTATGGTATTAC5663
rs362356snpC/G0.05170440.152246intron-variantPSEN1GRCh38.p714:73171921GATTAAGTCCTTCTT[C/G]GTATCTTTTCTCATA5663
rs362357snpC/T0.06335040.166319intron-variantPSEN1GRCh38.p714:73171994TTTATTTACATTGTT[C/T]ATTTAATGCCTAATT5663
rs362358snpC/G0.001994810.0315187intron-variantPSEN1GRCh38.p714:73172215TGATTCAAATGTCAT[C/G]TAGTTCCATCTCTAC5663
rs362359snpC/T0.05923550.161582intron-variantPSEN1GRCh38.p714:73172399AGGGATTGAAGAATA[C/T]TATCCATATAGGTTA5663
rs362360snpC/T0.02562150.110247intron-variantPSEN1GRCh38.p714:73172486CAGATCTGTCTGCTA[C/T]CTTTCCACAAAGGTG5663
rs362361snpA/G0.102370.201756intron-variantPSEN1GRCh38.p714:73176351TCCCTGCTTTAGTAG[A/G]CTGACCTTGTGACTT5663
rs362362snpC/G0.02211410.102801intron-variantPSEN1GRCh38.p714:73176911ATTCAGTCCTCAGCT[C/G]CCTGAAGTGTGGGTT5663
rs362363snpC/T0.05170440.152246intron-variantPSEN1GRCh38.p714:73176960GGAAACTGCGTATCA[C/T]GTGGTTACCAGTTTT5663
rs362364snpC/T0.03568150.128715intron-variantPSEN1GRCh38.p714:73194073CACATTCTGTAACCA[C/T]CAGTGTGACATGGGT5663
rs362365snpC/T0.02562150.110247intron-variantPSEN1GRCh38.p714:73194995CTGGTTCTGTTCTTG[C/T]ATTTGAGTAATCAGT5663
rs362366snpA/T00intron-variantPSEN1GRCh38.p714:73195030GAACTATAGAAGTCA[A/T]ATACTCTCTCTGACT5663
rs362367snpC/G0.1986340.244666intron-variantPSEN1GRCh38.p714:73198709GTAGAATCAATAGTT[C/G]TAGCAACTGAGGAGA5663
rs362368snpC/T0.06335040.166319intron-variantPSEN1GRCh38.p714:73199180GACATTGCTAGCAGA[C/T]GTTTAGAAATGAAAT5663
rs362369snpC/T0.1473210.227941intron-variantPSEN1GRCh38.p714:73203577AATCAATAAATAATT[C/T]TTTCATGCATTTTAA5663
rs362370snpA/C/T00intron-variantPSEN1GRCh38.p714:73203768CACTCTGGGAGCTTA[A/C/T]CTAGAAGGGAAACTA5663
rs362371snpA/G0.001197370.0244387intron-variantPSEN1GRCh38.p714:73204695TACTTGCATAAAGAA[A/G]GAAAACCTAATAAAT5663
rs362372snpA/T0.1108720.20771intron-variantPSEN1GRCh38.p714:73205135CATGGATAAAATTAT[A/T]GTGATAAAAAGCCAG5663
rs362374snpC/T0.0959340.196885intron-variantPSEN1GRCh38.p714:73206672AATACAGTCAAAGCA[C/T]CCTAGGTTAAGACAC5663
rs362375snpC/T0.01072460.0724382intron-variantPSEN1GRCh38.p714:73206926GAACCTCTTGTCTAA[C/T]ATGGCCAGAATAACT5663
rs362376snpC/G00intron-variantPSEN1GRCh38.p714:73211458ATACCAAGTTACAAC[C/G]CCACAACCTTAGAGC5663
rs362377snpA/G0.1251820.216612intron-variantPSEN1GRCh38.p714:73211505cttggtgggattacc[A/G]tgcttggcttggctt5663
rs362378snpA/G0.001994810.0315187intron-variantPSEN1GRCh38.p714:73212509TTCCAGTAAGCCTTC[A/G]TGGCCGTAATACATT5663
rs362379snpA/T0.01032950.0711199intron-variantPSEN1GRCh38.p714:73212775GCCACTAAAGCCCTT[A/T]GGTTAGGGCTCAGTC5663
rs362380snpA/G0.05170440.152246intron-variantPSEN1GRCh38.p714:73212993AATTATTATGACCTT[A/G]ACATATCCATCAGTT5663
rs362381snpA/G0.04372810.141251intron-variantPSEN1GRCh38.p714:73213500ATGCAAAGTAATAAC[A/G]GACGTGCTTCATCAT5663
rs362382snpC/T0.01014650.0705004intron-variantPSEN1GRCh38.p714:73217252TATTAATTGTAAGTA[C/T]ACACTAATAAGAATG5663
rs362383snpA/G0.0003992810.0141238utr-variant-3-primePSEN1GRCh38.p714:73219471TGGAAGGAGGTGCCT[A/G]TAGAAAACGATTTTG5663
rs362384snpA/C0.08581920.188533utr-variant-3-primePSEN1GRCh38.p714:73219602CCATCAGCAGCTTGA[A/C]GCGTGGTCACAGGAC5663
rs362385snpC/T0.04143630.137845utr-variant-3-primePSEN1GRCh38.p714:73219653CTCTCAGGACTACCG[C/T]TACCAAGAGGTTAGG5663
rs362387snpA/G0.007162660.059414utr-variant-3-prime, downstream-variant-500BPSEN1GRCh38.p714:73220670TTTCAGGTTATTCTC[A/G]TCAGCTCCACAAATG5663
rs362388snpC/T0.04449080.142359utr-variant-3-primePSEN1GRCh38.p714:73221719TCTTTAAATCATTCA[C/T]CTCAGGCAGAGAACT5663
rs362389snpA/C0.1453050.227022utr-variant-3-primePSEN1GRCh38.p714:73222153TGTGTTCCTAGAATC[A/C]CAGCTCTGACTCCAA5663
rs362390snpA/G0.04410950.141807utr-variant-3-primePSEN1GRCh38.p714:73222649AAAGATGAATAAGAT[A/G]AATTCTCAGAATGTA5663
rs362391snpA/G0.04410950.141807utr-variant-3-primePSEN1GRCh38.p714:73222814TTCAGAAATCAATCC[A/G]TTCAGTAAAGTACTC5663
rs362392snpC/G0.02289470.104514utr-variant-3-primePSEN1GRCh38.p714:73222827CCATTCAGTAAAGTA[C/G]TCCTTCTCTAAATTT5663
rs362393snpA/G0.1112240.207945utr-variant-3-primePSEN1GRCh38.p714:73222921ACATTGAATTTGGAA[A/G]GAGACGTGAAAATTG5663
rs362394snpA/G0.04410950.141807utr-variant-3-primePSEN1GRCh38.p714:73223112GAGTGTACCAACAAA[A/G]CTGTCATCGGGCTCA5663
rs362395snpC/T0.01859380.0946107utr-variant-3-primePSEN1GRCh38.p714:73223120CAACAAAGCTGTCAT[C/T]GGGCTCACAGCTCAG5663
rs362396snpG/T0.06335040.166319utr-variant-3-primePSEN1GRCh38.p714:73223436AGTTTCAAAGTCAGC[G/T]GCATATAGTAGCAAG5663
rs362397snpA/T0.002791620.0372561downstream-variant-500BPSEN1GRCh38.p714:73223726CATGAAAGTATCATA[A/T]TGTATAACTGTAACT5663
rs362457snpA/G00intron-variantPSEN1GRCh38.p714:73143044TTGTTCACAGGGCTA[A/G]GAATGTTCATGGCTA5663
rs362458snpA/G0.04525280.143452intron-variantPSEN1GRCh38.p714:73143161AGCTGATACTGGACC[A/G]AAATCAAATCTAGCT5663
rs362459snpG/T0.05019050.150254intron-variantPSEN1GRCh38.p714:73143456GTGCAGGCAAAATCT[G/T]TCACCTTTTCTGAGT5663
rs362460snpA/G0.005575420.0525036intron-variantPSEN1GRCh38.p714:73143492TTTACATGTCAGTAC[A/G]GATTCCTTTCCTCAT5663
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