SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs661 | snp | A/G/T | 9.88509e-05 | 0.00702963 | PSEN1 | 14 | allele_origin=G(germline)/A(germline) | 14:73217225 | ACACAACCATAGCCT[A/G/T]TTTCGTAGCCATATT | 5663 |
rs7523 | snp | A/G | 0.24932 | 0.249999 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73220236 | TAAGGCAGCTCTGTC[A/G]TGGTAGCAGATGGTC | 5663 |
rs14428 | snp | C/T | | | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73223268 | GAGGCACCCTGCTGC[C/T]CAAGGCTGTGGGAGA | 5663 |
rs165931 | snp | C/T | 0.442113 | 0.159977 | intron-variant | PSEN1 | GRCh38.p7 | 14:73163562 | CTGTTTGTCACTTGA[C/T]TATTCTTAGAATATA | 5663 |
rs165932 | snp | A/C | 0.467238 | 0.123725 | intron-variant | PSEN1 | GRCh38.p7 | 14:73198145 | TACTAATTCAATATC[A/C]TTCTCAAATACTTAC | 5663 |
rs165933 | snp | C/T | 0.35207 | 0.228214 | intron-variant | PSEN1 | GRCh38.p7 | 14:73198646 | TTGCTACTGCCACTA[C/T]CATAATTCAAACCCC | 5663 |
rs165934 | snp | A/C | 0.441158 | 0.161117 | intron-variant | PSEN1 | GRCh38.p7 | 14:73206123 | GTTTTCCTTCTGGTT[A/C]CTTTTCAGGGACTAA | 5663 |
rs165935 | snp | A/G | 0.441977 | 0.16014 | utr-variant-3-prime, downstream-variant-500B | PSEN1 | GRCh38.p7 | 14:73220436 | TCTGAGCTACTGTGT[A/G]GCAAAAGCAAAAACA | 5663 |
rs177286 | snp | C/G | | | intron-variant | PSEN1 | GRCh38.p7 | 14:73184195 | ggggtcagccccccg[C/G]ccggccagccgcccc | 5663 |
rs177412 | snp | A/T | 0.00874735 | 0.0655527 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73221080 | CCCAGGATATTTCTT[A/T]TAAGAACCTAACTTC | 5663 |
rs177413 | snp | A/G | 0.297128 | 0.245518 | intron-variant | PSEN1 | GRCh38.p7 | 14:73216486 | gacgtgagccaccac[A/G]catggccTATCATCT | 5663 |
rs177414 | snp | A/G | 0.00835141 | 0.0640778 | intron-variant | PSEN1 | GRCh38.p7 | 14:73216260 | ccctaggccttaagc[A/G]accagtgatctgctt | 5663 |
rs177415 | snp | A/C | 0.441021 | 0.161279 | intron-variant | PSEN1 | GRCh38.p7 | 14:73211255 | AAGACCAAGCCTATA[A/C]ACTAGTGATGGTAGA | 5663 |
rs177416 | snp | C/T | 0.00253558 | 0.0355156 | intron-variant | PSEN1 | GRCh38.p7 | 14:73206498 | TTTATTAGATAATAT[C/T]TTGATTTTTCAGGGT | 5663 |
rs177417 | snp | C/T | 0.00636936 | 0.0560724 | intron-variant | PSEN1 | GRCh38.p7 | 14:73205372 | cctgcctcagcctcc[C/T]gagtagctgggacta | 5663 |
rs177418 | snp | C/T | 0.02016 | 0.0983543 | intron-variant | PSEN1 | GRCh38.p7 | 14:73202628 | aaaattagccaggca[C/T]ggtggcgggcgccta | 5663 |
rs183338 | snp | C/T | | | intron-variant | PSEN1 | GRCh38.p7 | 14:73184180 | gccggccagccgccc[C/T]gtccgggagggaggt | 5663 |
rs184193 | snp | C/G | | | intron-variant | PSEN1 | GRCh38.p7 | 14:73184146 | ggggtcagccccccg[C/G]ccggccagccgccct | 5663 |
rs184194 | snp | A/G | | | intron-variant | PSEN1 | GRCh38.p7 | 14:73184107 | gagggaggtgggggg[A/G]tcagccccccgcccg | 5663 |
rs184195 | snp | C/T | | | intron-variant | PSEN1 | GRCh38.p7 | 14:73184093 | GATCAGCCCCCCGCc[C/T]ggccagccgccccgt | 5663 |
rs214260 | snp | A/G | 0.332337 | 0.236052 | intron-variant | PSEN1 | GRCh38.p7 | 14:73195921 | CGAGATCAGAGTTTA[A/G]Gcttaggcaaataat | 5663 |
rs214261 | snp | A/G | 0.298651 | 0.24522 | intron-variant | PSEN1 | GRCh38.p7 | 14:73195761 | tgggaggctgcttga[A/G]gctaggaggtcaaca | 5663 |
rs214262 | snp | C/T | 0.297382 | 0.245469 | intron-variant | PSEN1 | GRCh38.p7 | 14:73195457 | ggctgggcgcagtgg[C/T]tcaagcctgtaatcc | 5663 |
rs214263 | snp | C/G | 0.332568 | 0.235971 | intron-variant | PSEN1 | GRCh38.p7 | 14:73186207 | TTTTTAGTAGAGACA[C/G]AGTTTCTCCATGTTG | 5663 |
rs214264 | snp | A/C/G | 0.00636936 | 0.0560724 | intron-variant | PSEN1 | GRCh38.p7 | 14:73184543 | caggccagccgccct[A/C/G]tccgagagggaggtg | 5663 |
rs214265 | snp | C/T | | | intron-variant | PSEN1 | GRCh38.p7 | 14:73184076 | gccagccgccccgtc[C/T]gggagggaggtgggg | 5663 |
rs214266 | snp | C/T | | | intron-variant | PSEN1 | GRCh38.p7 | 14:73183996 | cctctgcccggccgc[C/T]cctactgggaagtga | 5663 |
rs214267 | snp | C/G | 0.332568 | 0.235971 | intron-variant | PSEN1 | GRCh38.p7 | 14:73180466 | CTCTGGCAAGTTACT[C/G]AATCTCTGACTCAAA | 5663 |
rs214268 | snp | C/T | 0.00874735 | 0.0655527 | intron-variant | PSEN1 | GRCh38.p7 | 14:73176251 | TTAAAGTGGGGGAGG[C/T]GAATGCTTCCCAGCA | 5663 |
rs214269 | snp | C/T | 0.298651 | 0.24522 | intron-variant | PSEN1 | GRCh38.p7 | 14:73173930 | actcctgggcccaag[C/T]gatcctcctgcctca | 5663 |
rs214270 | snp | A/G | 0.02016 | 0.0983543 | intron-variant | PSEN1 | GRCh38.p7 | 14:73166914 | AAGACCGAGGCTGGC[A/G]TTATAAAGGCATGGT | 5663 |
rs214271 | snp | C/T | 0.299158 | 0.245119 | intron-variant | PSEN1 | GRCh38.p7 | 14:73165962 | ttcaagcaattctcc[C/T]gcgtcagcctcccga | 5663 |
rs214272 | snp | C/G | 0.02016 | 0.0983543 | intron-variant | PSEN1 | GRCh38.p7 | 14:73163850 | ataacaaaatcaaaa[C/G]ttcttaggctcatga | 5663 |
rs214273 | snp | C/T | 0.298398 | 0.245271 | intron-variant | PSEN1 | GRCh38.p7 | 14:73149416 | TGCTGGAGTGGCCTT[C/T]CAGCCTTTTGTGACT | 5663 |
rs214274 | snp | C/G | 0.299158 | 0.245119 | intron-variant | PSEN1 | GRCh38.p7 | 14:73148902 | CTCGTCGCCCAGGCT[C/G]GAGTGCAATGGCGCG | 5663 |
rs214275 | snp | G/T | 0.02016 | 0.0983543 | intron-variant | PSEN1 | GRCh38.p7 | 14:73144546 | GCCTCTTTATAAAAC[G/T]CCAAACCTGCCCCGT | 5663 |
rs214276 | snp | C/T | 0 | 0 | intron-variant | PSEN1 | GRCh38.p7 | 14:73142943 | GGGACAGAATCTACT[C/T]TGGTGTTTTTGCTCT | 5663 |
rs214277 | snp | A/T | 0.100231 | 0.200173 | intron-variant | PSEN1 | GRCh38.p7 | 14:73139288 | gcccagccTTTTTTT[A/T]AAAAAAaaacgaagt | 5663 |
rs214278 | snp | C/T | 0.298651 | 0.24522 | intron-variant | PSEN1 | GRCh38.p7 | 14:73138787 | attttttagtagaga[C/T]ggggtttcaccgtgt | 5663 |
rs214279 | snp | C/G | 0.298144 | 0.245321 | intron-variant, upstream-variant-2KB | PSEN1 | GRCh38.p7 | 14:73137870 | tggtctcgaactcct[C/G]agctcaaggatccgc | 5663 |
rs214280 | snp | C/T | 0.0614824 | 0.164198 | upstream-variant-2KB | PSEN1 | GRCh38.p7 | 14:73134956 | AATCTGATTGCAGTC[C/T]GCTAATATTAATAGG | 5663 |
rs362339 | snp | C/T | 0.0520825 | 0.152737 | intron-variant | PSEN1 | GRCh38.p7 | 14:73147679 | CAGTTAGTTGAAAGT[C/T]GTGACAAATTAATAC | 5663 |
rs362340 | snp | A/G | 0.178465 | 0.239547 | intron-variant | PSEN1 | GRCh38.p7 | 14:73172430 | GGGTTAGGTTTGGCA[A/G]CGTATTATAGAACAA | 5663 |
rs362341 | snp | A/T | 0.21875 | 0.248039 | intron-variant | PSEN1 | GRCh38.p7 | 14:73174750 | TCACACCTTGCCTAA[A/T]CTGGTAGCCACCATG | 5663 |
rs362342 | snp | C/G | 0.149665 | 0.228982 | intron-variant | PSEN1 | GRCh38.p7 | 14:73196049 | ACAGAGCTTTGAGTT[C/G]CTTTTAAACAAAAGA | 5663 |
rs362343 | snp | C/T | 0.179425 | 0.239831 | intron-variant | PSEN1 | GRCh38.p7 | 14:73212852 | AGCATATTTTCCAAC[C/T]AAGTTATTTTTGGTT | 5663 |
rs362344 | snp | C/T | 0.415891 | 0.18703 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73223011 | AGTGATCCTTGTGAT[C/T]TTCTCACCTCTTTAA | 5663 |
rs362347 | snp | A/C | 0 | 0 | intron-variant | PSEN1 | GRCh38.p7 | 14:73146606 | ATGTGTAATGATTTG[A/C]ATGATACAAATATAA | 5663 |
rs362348 | snp | C/G | 0.0633504 | 0.166319 | intron-variant | PSEN1 | GRCh38.p7 | 14:73147509 | AATTTGGTCAGCATA[C/G]AAAAAGGAATGTTGA | 5663 |
rs362349 | snp | G/T | 0 | 0 | intron-variant | PSEN1 | GRCh38.p7 | 14:73147606 | TGAAAATGTTTGGTG[G/T]CTCAGGCGGTTCTAC | 5663 |
rs362350 | snp | A/G | 0.162581 | 0.234218 | intron-variant | PSEN1 | GRCh38.p7 | 14:73164384 | AGTTTCATCTGGACA[A/G]TACCCTAAGAGGAGA | 5663 |
rs362351 | snp | A/C | 0.0221141 | 0.102801 | intron-variant | PSEN1 | GRCh38.p7 | 14:73164900 | TAAATTAAATCTGGA[A/C]AGCCAGTGAATCTGC | 5663 |
rs362352 | snp | A/G | 0 | 0 | intron-variant | PSEN1 | GRCh38.p7 | 14:73166249 | TTGGGGACTCTGAAT[A/G]AGCATATGATTGCCC | 5663 |
rs362353 | snp | A/G | 0.0341408 | 0.126114 | intron-variant | PSEN1 | GRCh38.p7 | 14:73166789 | TGATGGGTGGTATAT[A/G]TATTTCTACCTTTTA | 5663 |
rs362354 | snp | A/G | 0.0256215 | 0.110247 | intron-variant | PSEN1 | GRCh38.p7 | 14:73170486 | CTTGGAGCTGCAGCC[A/G]GTAAACAAGTTTTCA | 5663 |
rs362355 | snp | C/T | 0.189576 | 0.242588 | intron-variant | PSEN1 | GRCh38.p7 | 14:73171253 | CTGCAGAAGTATGTT[C/T]CCTGTATGGTATTAC | 5663 |
rs362356 | snp | C/G | 0.0517044 | 0.152246 | intron-variant | PSEN1 | GRCh38.p7 | 14:73171921 | GATTAAGTCCTTCTT[C/G]GTATCTTTTCTCATA | 5663 |
rs362357 | snp | C/T | 0.0633504 | 0.166319 | intron-variant | PSEN1 | GRCh38.p7 | 14:73171994 | TTTATTTACATTGTT[C/T]ATTTAATGCCTAATT | 5663 |
rs362358 | snp | C/G | 0.00199481 | 0.0315187 | intron-variant | PSEN1 | GRCh38.p7 | 14:73172215 | TGATTCAAATGTCAT[C/G]TAGTTCCATCTCTAC | 5663 |
rs362359 | snp | C/T | 0.0592355 | 0.161582 | intron-variant | PSEN1 | GRCh38.p7 | 14:73172399 | AGGGATTGAAGAATA[C/T]TATCCATATAGGTTA | 5663 |
rs362360 | snp | C/T | 0.0256215 | 0.110247 | intron-variant | PSEN1 | GRCh38.p7 | 14:73172486 | CAGATCTGTCTGCTA[C/T]CTTTCCACAAAGGTG | 5663 |
rs362361 | snp | A/G | 0.10237 | 0.201756 | intron-variant | PSEN1 | GRCh38.p7 | 14:73176351 | TCCCTGCTTTAGTAG[A/G]CTGACCTTGTGACTT | 5663 |
rs362362 | snp | C/G | 0.0221141 | 0.102801 | intron-variant | PSEN1 | GRCh38.p7 | 14:73176911 | ATTCAGTCCTCAGCT[C/G]CCTGAAGTGTGGGTT | 5663 |
rs362363 | snp | C/T | 0.0517044 | 0.152246 | intron-variant | PSEN1 | GRCh38.p7 | 14:73176960 | GGAAACTGCGTATCA[C/T]GTGGTTACCAGTTTT | 5663 |
rs362364 | snp | C/T | 0.0356815 | 0.128715 | intron-variant | PSEN1 | GRCh38.p7 | 14:73194073 | CACATTCTGTAACCA[C/T]CAGTGTGACATGGGT | 5663 |
rs362365 | snp | C/T | 0.0256215 | 0.110247 | intron-variant | PSEN1 | GRCh38.p7 | 14:73194995 | CTGGTTCTGTTCTTG[C/T]ATTTGAGTAATCAGT | 5663 |
rs362366 | snp | A/T | 0 | 0 | intron-variant | PSEN1 | GRCh38.p7 | 14:73195030 | GAACTATAGAAGTCA[A/T]ATACTCTCTCTGACT | 5663 |
rs362367 | snp | C/G | 0.198634 | 0.244666 | intron-variant | PSEN1 | GRCh38.p7 | 14:73198709 | GTAGAATCAATAGTT[C/G]TAGCAACTGAGGAGA | 5663 |
rs362368 | snp | C/T | 0.0633504 | 0.166319 | intron-variant | PSEN1 | GRCh38.p7 | 14:73199180 | GACATTGCTAGCAGA[C/T]GTTTAGAAATGAAAT | 5663 |
rs362369 | snp | C/T | 0.147321 | 0.227941 | intron-variant | PSEN1 | GRCh38.p7 | 14:73203577 | AATCAATAAATAATT[C/T]TTTCATGCATTTTAA | 5663 |
rs362370 | snp | A/C/T | 0 | 0 | intron-variant | PSEN1 | GRCh38.p7 | 14:73203768 | CACTCTGGGAGCTTA[A/C/T]CTAGAAGGGAAACTA | 5663 |
rs362371 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | PSEN1 | GRCh38.p7 | 14:73204695 | TACTTGCATAAAGAA[A/G]GAAAACCTAATAAAT | 5663 |
rs362372 | snp | A/T | 0.110872 | 0.20771 | intron-variant | PSEN1 | GRCh38.p7 | 14:73205135 | CATGGATAAAATTAT[A/T]GTGATAAAAAGCCAG | 5663 |
rs362374 | snp | C/T | 0.095934 | 0.196885 | intron-variant | PSEN1 | GRCh38.p7 | 14:73206672 | AATACAGTCAAAGCA[C/T]CCTAGGTTAAGACAC | 5663 |
rs362375 | snp | C/T | 0.0107246 | 0.0724382 | intron-variant | PSEN1 | GRCh38.p7 | 14:73206926 | GAACCTCTTGTCTAA[C/T]ATGGCCAGAATAACT | 5663 |
rs362376 | snp | C/G | 0 | 0 | intron-variant | PSEN1 | GRCh38.p7 | 14:73211458 | ATACCAAGTTACAAC[C/G]CCACAACCTTAGAGC | 5663 |
rs362377 | snp | A/G | 0.125182 | 0.216612 | intron-variant | PSEN1 | GRCh38.p7 | 14:73211505 | cttggtgggattacc[A/G]tgcttggcttggctt | 5663 |
rs362378 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | PSEN1 | GRCh38.p7 | 14:73212509 | TTCCAGTAAGCCTTC[A/G]TGGCCGTAATACATT | 5663 |
rs362379 | snp | A/T | 0.0103295 | 0.0711199 | intron-variant | PSEN1 | GRCh38.p7 | 14:73212775 | GCCACTAAAGCCCTT[A/T]GGTTAGGGCTCAGTC | 5663 |
rs362380 | snp | A/G | 0.0517044 | 0.152246 | intron-variant | PSEN1 | GRCh38.p7 | 14:73212993 | AATTATTATGACCTT[A/G]ACATATCCATCAGTT | 5663 |
rs362381 | snp | A/G | 0.0437281 | 0.141251 | intron-variant | PSEN1 | GRCh38.p7 | 14:73213500 | ATGCAAAGTAATAAC[A/G]GACGTGCTTCATCAT | 5663 |
rs362382 | snp | C/T | 0.0101465 | 0.0705004 | intron-variant | PSEN1 | GRCh38.p7 | 14:73217252 | TATTAATTGTAAGTA[C/T]ACACTAATAAGAATG | 5663 |
rs362383 | snp | A/G | 0.000399281 | 0.0141238 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73219471 | TGGAAGGAGGTGCCT[A/G]TAGAAAACGATTTTG | 5663 |
rs362384 | snp | A/C | 0.0858192 | 0.188533 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73219602 | CCATCAGCAGCTTGA[A/C]GCGTGGTCACAGGAC | 5663 |
rs362385 | snp | C/T | 0.0414363 | 0.137845 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73219653 | CTCTCAGGACTACCG[C/T]TACCAAGAGGTTAGG | 5663 |
rs362387 | snp | A/G | 0.00716266 | 0.059414 | utr-variant-3-prime, downstream-variant-500B | PSEN1 | GRCh38.p7 | 14:73220670 | TTTCAGGTTATTCTC[A/G]TCAGCTCCACAAATG | 5663 |
rs362388 | snp | C/T | 0.0444908 | 0.142359 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73221719 | TCTTTAAATCATTCA[C/T]CTCAGGCAGAGAACT | 5663 |
rs362389 | snp | A/C | 0.145305 | 0.227022 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73222153 | TGTGTTCCTAGAATC[A/C]CAGCTCTGACTCCAA | 5663 |
rs362390 | snp | A/G | 0.0441095 | 0.141807 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73222649 | AAAGATGAATAAGAT[A/G]AATTCTCAGAATGTA | 5663 |
rs362391 | snp | A/G | 0.0441095 | 0.141807 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73222814 | TTCAGAAATCAATCC[A/G]TTCAGTAAAGTACTC | 5663 |
rs362392 | snp | C/G | 0.0228947 | 0.104514 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73222827 | CCATTCAGTAAAGTA[C/G]TCCTTCTCTAAATTT | 5663 |
rs362393 | snp | A/G | 0.111224 | 0.207945 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73222921 | ACATTGAATTTGGAA[A/G]GAGACGTGAAAATTG | 5663 |
rs362394 | snp | A/G | 0.0441095 | 0.141807 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73223112 | GAGTGTACCAACAAA[A/G]CTGTCATCGGGCTCA | 5663 |
rs362395 | snp | C/T | 0.0185938 | 0.0946107 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73223120 | CAACAAAGCTGTCAT[C/T]GGGCTCACAGCTCAG | 5663 |
rs362396 | snp | G/T | 0.0633504 | 0.166319 | utr-variant-3-prime | PSEN1 | GRCh38.p7 | 14:73223436 | AGTTTCAAAGTCAGC[G/T]GCATATAGTAGCAAG | 5663 |
rs362397 | snp | A/T | 0.00279162 | 0.0372561 | downstream-variant-500B | PSEN1 | GRCh38.p7 | 14:73223726 | CATGAAAGTATCATA[A/T]TGTATAACTGTAACT | 5663 |
rs362457 | snp | A/G | 0 | 0 | intron-variant | PSEN1 | GRCh38.p7 | 14:73143044 | TTGTTCACAGGGCTA[A/G]GAATGTTCATGGCTA | 5663 |
rs362458 | snp | A/G | 0.0452528 | 0.143452 | intron-variant | PSEN1 | GRCh38.p7 | 14:73143161 | AGCTGATACTGGACC[A/G]AAATCAAATCTAGCT | 5663 |
rs362459 | snp | G/T | 0.0501905 | 0.150254 | intron-variant | PSEN1 | GRCh38.p7 | 14:73143456 | GTGCAGGCAAAATCT[G/T]TCACCTTTTCTGAGT | 5663 |
rs362460 | snp | A/G | 0.00557542 | 0.0525036 | intron-variant | PSEN1 | GRCh38.p7 | 14:73143492 | TTTACATGTCAGTAC[A/G]GATTCCTTTCCTCAT | 5663 |