SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs11258 | snp | C/T | | | intron-variant, utr-variant-3-prime | NBEAL1 | GRCh38.p7 | 2:203190946 | GTGACTGGAAGGGCC[C/T]GAGGATTACAGTGAA | 65065 |
rs13703 | snp | C/G | | | intron-variant, utr-variant-3-prime | NBEAL1 | GRCh38.p7 | 2:203190864 | GCCACTTCTGCCCTG[C/G]CCCCCAAGATCGGCC | 65065 |
rs15843 | snp | A/G | 0.375 | 0.216506 | intron-variant, utr-variant-3-prime | NBEAL1 | GRCh38.p7 | 2:203191117 | TGCCGCATCTGTCGA[A/G]CAATGTTGACGATCT | 65065 |
rs936721 | snp | G/T | 0.483272 | 0.0899109 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203040995 | GATTTTTGAAGATAA[G/T]GCAGGGAATAATCTT | 65065 |
rs960843 | snp | A/C | 0 | 0 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203054629 | AAATCAAAAGAAACA[A/C]TACACAAAAGAAACA | 65065 |
rs960844 | snp | A/G | | | intron-variant | NBEAL1 | GRCh38.p7 | 2:203054879 | TTTAAGATCCCAAAA[A/G]ACAACACTCAAGAAG | 65065 |
rs966229 | snp | A/G | 0.24019 | 0.249807 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203211373 | AGGCTGGACATAGTC[A/G]CTCCTGCCTGTAATC | 65065 |
rs1078431 | snp | C/T | 0.375 | 0.216506 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203116808 | GTGCTGGGCCCCCCC[C/T]TTTTTTTTTTTTTTT | 65065 |
rs1122253 | snp | C/T | 0.428333 | 0.175206 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203072452 | accagaagctgaaga[C/T]ttagaaaattctcag | 65065 |
rs1122393 | snp | C/T | 0.352504 | 0.228019 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203070841 | GATCCAGTCATTTCC[C/T]ACCAGGCCCCACCTC | 65065 |
rs1385043 | snp | C/T | 0.0209421 | 0.100162 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203051990 | tacattagtatgata[C/T]atttattacagctga | 65065 |
rs1434055 | snp | A/G | 0.49621 | 0.0433651 | utr-variant-3-prime | NBEAL1 | GRCh38.p7 | 2:203222136 | AGGCTGCAGTAAGCT[A/G]TGATTGCACCACTGC | 65065 |
rs1484121 | snp | A/G | 0.105569 | 0.204058 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203064987 | ATGGGGCCCTGCACA[A/G]TGGCTCATGCCTGTA | 65065 |
rs1531886 | snp | C/T | 0.458084 | 0.138567 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203111151 | tagagagagtctcac[C/T]ccaggctggtcttga | 65065 |
rs1545885 | snp | A/G | 0.476052 | 0.106772 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203097307 | ATATTAACTAGTCCT[A/G]ATTATTGCCATTGTT | 65065 |
rs1560855 | snp | C/T | 0.242201 | 0.249878 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203171340 | ctgggcatggtggca[C/T]atgcctgtaaaccca | 65065 |
rs1816454 | snp | C/T | | | intron-variant | NBEAL1 | GRCh38.p7 | 2:203207220 | aggagcccctccgcc[C/T]ggcagccaccccatc | 65065 |
rs1843077 | snp | A/G | 0.5 | 0 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203066376 | acagcacacgtttca[A/G]agagcacggggttgg | 65065 |
rs1865313 | snp | A/G | 0.237882 | 0.249706 | | | GRCh38.p7 | 2:203226503 | AAAATACAGTATTTG[A/G]CCTGGGAAACATAGA | 65065 |
rs1865314 | snp | G/T | 0.240478 | 0.249819 | | | GRCh38.p7 | 2:203226741 | gactttttgtTTTTT[G/T]GGGGGTTTTTTGGTT | 65065 |
rs1865315 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203202993 | ATTGCTTTCCAAAGA[C/T]TCTTCCTTCTTACCT | 65065 |
rs1865316 | snp | A/G | | | intron-variant | NBEAL1 | GRCh38.p7 | 2:203203377 | atggggtttcgccat[A/G]ttggccaggctggtc | 65065 |
rs1947983 | snp | A/C | 0.471004 | 0.116864 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203017870 | AAATGTTAATCCTCA[A/C]TAATGAAGGCCCCTC | 65065 |
rs1947984 | snp | A/C | 0.207864 | 0.246424 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203017975 | TTTGTGTGCTTAATA[A/C]GATTTAAAATTTTTT | 65065 |
rs1975211 | snp | C/T | 0.240765 | 0.249829 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203170992 | AAATTTTAggccaca[C/T]gcagtggctcacagt | 65065 |
rs2043446 | snp | C/T | 0.241053 | 0.24984 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203180816 | TTAGGTTAAAAGTGT[C/T]TGAGTTAGATAAGGT | 65065 |
rs2043447 | snp | C/G | 0.243061 | 0.249904 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203181737 | CACTTTGACCATGAA[C/G]TCTGGAACAAGCTGT | 65065 |
rs2043448 | snp | A/G | 0.476574 | 0.105661 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203181803 | GGTGACTTTCAGAAA[A/G]TGAGGTAAATCTGTT | 65065 |
rs2060388 | snp | A/G | 0.241914 | 0.249869 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203202545 | TGTCTCTCTTCCCCA[A/G]TGCTTTTCCAGTACC | 65065 |
rs2077617 | snp | C/T | 0 | 0 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203116644 | tgccactaaaactgg[C/T]tattttttttttttt | 65065 |
rs2086833 | snp | C/G/T | 0.00322498 | 0.0400261 | missense | NBEAL1 | GRCh38.p7 | 2:203116045 | TAGTAAAGAAGGATG[C/G/T]TACCAGGCAGGTCGG | 65065 |
rs2101261 | snp | C/T | | | intron-variant | NBEAL1 | GRCh38.p7 | 2:203099746 | AGCTTTTTTTTTTTt[C/T]ttaacttttatttta | 65065 |
rs2117265 | snp | A/C | 0.237593 | 0.249692 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203192382 | AATATTTATTAAAAG[A/C]TAATTTTTTTTTTTT | 65065 |
rs2117266 | snp | G/T | 0.499879 | 0.0077866 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203195425 | AACTCTACAAACTTG[G/T]TTGTTTCCAAAAGTA | 65065 |
rs2117267 | snp | C/G | | | intron-variant | NBEAL1 | GRCh38.p7 | 2:203120814 | TTAAAACAGGTCATA[C/G]ATACACAGTTTTTAG | 65065 |
rs2164036 | snp | A/G | 0.00478085 | 0.0486577 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203196572 | ATTAATTCACAACGT[A/G]AAGAGAAAAGATAAT | 65065 |
rs2164037 | snp | A/G | 0.238749 | 0.249747 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203210474 | agaccatcctaacta[A/G]cacagtgaaaccccg | 65065 |
rs2196145 | snp | G/T | 0.0123036 | 0.0774623 | intron-variant, upstream-variant-2KB | NBEAL1 | GRCh38.p7 | 2:203126233 | AAGTTTTTAAAAGCT[G/T]CCTGTGAACAAATTA | 65065 |
rs2351524 | snp | C/T | 0.104149 | 0.203046 | utr-variant-5-prime | NBEAL1 | GRCh38.p7 | 2:203016269 | CTTCTTTTTGCTTTC[C/T]TTACTGCTATGAGCT | 65065 |
rs2351525 | snp | A/C | 0.439641 | 0.162899 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203038500 | ggccgtttgtatatt[A/C]ccttttgtgaagtgt | 65065 |
rs2351526 | snp | A/G | 0.202343 | 0.245416 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203077189 | ggctgaggcgggtgg[A/G]tcacctgaggtctct | 65065 |
rs2351772 | snp | C/T | 0.49607 | 0.0441545 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203214590 | GACCAGCCTGGCCAA[C/T]GTGGTGAAACCCCAT | 65065 |
rs2351773 | snp | C/G | 0.109679 | 0.206906 | | | GRCh38.p7 | 2:203226164 | GAACATGAACCTTTA[C/G]CTACTAGCACCATCC | 65065 |
rs2882693 | snp | A/G | 0.0792508 | 0.182605 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203068665 | GGTTTTATTTAATTT[A/G]CTGTTCTCAAAAAAT | 65065 |
rs2882769 | snp | C/T | 0.00874735 | 0.0655527 | utr-variant-3-prime | NBEAL1 | GRCh38.p7 | 2:203219969 | GCAAACAACTATTAG[C/T]GAATAATATATTACT | 65065 |
rs2882771 | snp | C/T | 0.206029 | 0.246103 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203161308 | ctccagcctgggcaa[C/T]ggagctagactccat | 65065 |
rs3053110 | in-del | -/A | | | intron-variant | NBEAL1 | GRCh38.p7 | 2:203116628 | TATGAAAAATGCCAA[-/A]AAAAAAAAAAAAAAT | 65065 |
rs4254486 | snp | C/T | 0.259397 | 0.249823 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203057849 | tttttgtttttttgt[C/T]tttttgagacagagt | 65065 |
rs4276007 | snp | A/G | 0.245631 | 0.249962 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203207251 | tgggaagtgaagagc[A/G]tctccgcccggcagc | 65065 |
rs4278913 | snp | C/G/T | | | intron-variant | NBEAL1 | GRCh38.p7 | 2:203181015 | gatcactactcactg[C/G/T]agccttgacctcctg | 65065 |
rs4297863 | snp | C/T | 0.19646 | 0.2442 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203141154 | TTGCAGTTAGCATGC[C/T]AGATAGTTCTTTATT | 65065 |
rs4325728 | snp | G/T | 0 | 0 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203052071 | tcactatttgtgttg[G/T]atagtttcatgggtt | 65065 |
rs4328616 | snp | C/G | 0.197703 | 0.244469 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203143016 | ACCTGTGTGTACAGC[C/G]CAGACCAGCTTTTGG | 65065 |
rs4491713 | snp | A/G | 0.242488 | 0.249887 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203207297 | ggaggtgggggggtc[A/G]gccccccgcccggcc | 65065 |
rs4547516 | snp | A/G | 0.237593 | 0.249692 | utr-variant-3-prime | NBEAL1 | GRCh38.p7 | 2:203220054 | AGAAGTACTTTTGAG[A/G]ATTCTGGTATATTTA | 65065 |
rs4561645 | snp | C/T | | | intron-variant, utr-variant-3-prime | NBEAL1 | GRCh38.p7 | 2:203191220 | TGTTGATGGCCGCCA[C/T]CCTCATGACATCATC | 65065 |
rs4569461 | snp | C/G | 0.5 | 0 | intron-variant, utr-variant-3-prime | NBEAL1 | GRCh38.p7 | 2:203191257 | ATCAACAGTGGTGCT[C/G]TGGAATGCCCAGCCA | 65065 |
rs4585009 | snp | A/C | | | intron-variant | NBEAL1 | GRCh38.p7 | 2:203070796 | ACCAAAGGGATGCTG[A/C]TAAATTATGCATGAA | 65065 |
rs4595956 | snp | A/T | 0 | 0 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203052073 | actatttgtgttgta[A/T]agtttcatgggtttt | 65065 |
rs4606902 | snp | C/G | 0.487933 | 0.0767327 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203086827 | GGCGTGAGCCACCGT[C/G]CCCGGCCTGCTTTTC | 65065 |
rs4673241 | snp | A/G | 0.128058 | 0.218244 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203056547 | GTCACTTTACTGAGA[A/G]CAACTAGGTTTTACT | 65065 |
rs4673242 | snp | C/T | 0.452719 | 0.146304 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203143711 | gttctccatgggtct[C/T]ttgtgtttctatata | 65065 |
rs4673243 | snp | A/G | 0.200492 | 0.245049 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203155121 | GGTGCAGTCATGTGC[A/G]CCCATGATCCCAGGT | 65065 |
rs4673244 | snp | A/T | 0.249603 | 0.25 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203178343 | gtaacttttttgtat[A/T]tttggtagagacggg | 65065 |
rs4673246 | snp | A/G | 0.25045 | 0.25 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203199759 | GTGCTGGGATTATAG[A/G]CCGCCTGGCCCTGAA | 65065 |
rs4675309 | snp | A/G | 0.21725 | 0.247846 | upstream-variant-2KB, intron-variant | NBEAL1 | GRCh38.p7 | 2:203014780 | GAACAGCTGCCGCCC[A/G]ACGGCTGGGTAAATC | 65065 |
rs4675310 | snp | A/G | 0.104504 | 0.2033 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203016111 | AGTCTAGATTTTTTA[A/G]TATGGCCTCTTTTTC | 65065 |
rs4675311 | snp | A/G | 0.21725 | 0.247846 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203028233 | ATGTTGCCCAGGCTG[A/G]TCTTGAACTCCTGTT | 65065 |
rs4675312 | snp | A/G | 0.205723 | 0.246048 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203113971 | ggactacaggcaccc[A/G]ccaccatgccgggct | 65065 |
rs4675313 | snp | C/T | 0.206029 | 0.246103 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203113981 | cacccgccaccatgc[C/T]gggctaattttttgt | 65065 |
rs4675314 | snp | A/G | 0.187053 | 0.241946 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203140809 | TGGGAGGGCGAGGTG[A/G]GTGGATTCACTTGAC | 65065 |
rs4675315 | snp | C/T | 0.20511 | 0.245937 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203153806 | TCCATATTATTTTCT[C/T]GACTTTTGCCAAGAA | 65065 |
rs4675316 | snp | C/T | 0.200492 | 0.245049 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203154608 | TGATTTAAAATATTA[C/T]TTTGGATGGAAAATC | 65065 |
rs4675317 | snp | A/G | 0.0700422 | 0.173537 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203169128 | AATAATATTTCCGTT[A/G]TACATGATAATTTTT | 65065 |
rs4675320 | snp | A/G | 0.239326 | 0.249772 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203180021 | TGAGGTAATCCACCC[A/G]CCTCAGCCTCCCAAA | 65065 |
rs4675321 | snp | C/T | 0.237593 | 0.249692 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203180049 | AAAGTGCTGGAATTA[C/T]AGGCGTGAGCCACTG | 65065 |
rs4675322 | snp | G/T | 0.239902 | 0.249796 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203195156 | CCGAGATCACGCCAC[G/T]GCACTCAGAGCGAGA | 65065 |
rs4675323 | snp | A/G | 0.120003 | 0.213543 | missense | NBEAL1 | GRCh38.p7 | 2:203197338 | CTATTAAAGGCCACC[A/G]TCCCCAAAAATCAGT | 65065 |
rs5837836 | in-del | -/T | 0.490398 | 0.0686206 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203052256 | TCTGTCAACCACTGA[-/T]TTTTTTTTTTTTTAA | 65065 |
rs5837841 | in-del | -/T | 0.420415 | 0.182917 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203118594 | TGTGTGACAGCCAAC[-/T]TTTTTTTTTTTTTTT | 65065 |
rs5837842 | in-del | -/C | 0.198324 | 0.244601 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203141238 | AATTTGATGAAATTT[-/C]CCTAAACAAAATGTG | 65065 |
rs5837843 | in-del | -/T | | | intron-variant | NBEAL1 | GRCh38.p7 | 2:203153303 | ATGCCATGCCCAGCA[-/T]TTTTTTTTTTTTTTT | 65065 |
rs5837844 | in-del | -/T | 0.357451 | 0.225731 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203171677 | AGGTTTTTTTTTTTT[-/T]AGGAAAGAATTTTTA | 65065 |
rs5837845 | in-del | -/T | 0.496314 | 0.0427728 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203171822 | CTTTTTTTTTTTTTT[-/T]AGCCCATTCTTGGTA | 65065 |
rs5837846 | in-del | -/T | 0.254105 | 0.249966 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203203307 | GGCTATTTTTTTTTT[-/T]ATTGTATTTTTTGTA | 65065 |
rs6435172 | snp | C/G | 0.197082 | 0.244335 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203088511 | CACACAGGTACCCTC[C/G]CTCTGTCCCCATAAA | 65065 |
rs6435173 | snp | A/G | 0.198014 | 0.244535 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203148389 | CCACACATTGCTGTA[A/G]TGTCTCTCTAAAACT | 65065 |
rs6435174 | snp | A/G | 0.204803 | 0.245881 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203160328 | tcaggtgatccaccc[A/G]cctcggcttcccaaa | 65065 |
rs6435175 | snp | A/T | 0.244776 | 0.249945 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203188267 | ATATTAATAAATATA[A/T]CTACATTATAGTAGA | 65065 |
rs6704959 | snp | A/G | 0.475789 | 0.107327 | utr-variant-3-prime | NBEAL1 | GRCh38.p7 | 2:203223799 | TTTACAATTTAGTGG[A/G]ATGAACCTACAAATT | 65065 |
rs6714802 | snp | C/T | 0.476918 | 0.104919 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203197606 | TCAGAAAATAAAATC[C/T]GAAAAGATATATAAA | 65065 |
rs6715331 | snp | C/T | 0.192715 | 0.243348 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203127095 | GTGGATCGCATACAC[C/T]GAGTTTGAATCTGGC | 65065 |
rs6715752 | snp | A/G | 0.487432 | 0.0782705 | intron-variant, upstream-variant-2KB | NBEAL1 | GRCh38.p7 | 2:203048829 | TCACAAAATGTTGAT[A/G]TATTACTTTTTAAAG | 65065 |
rs6715835 | snp | A/T | 0 | 0 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203097401 | AAAAAGTGAATAATC[A/T]TTAATTTCTAAAAGT | 65065 |
rs6718159 | snp | A/T | 0.444444 | 0.157135 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203198007 | TCCTTATATATATAT[A/T]tttttttcttttctt | 65065 |
rs6720078 | snp | A/T | | | utr-variant-3-prime | NBEAL1 | GRCh38.p7 | 2:203223703 | CTAGCAATTCTGTGG[A/T]AATCAGTGTACTAGT | 65065 |
rs6722395 | snp | C/G | 0.245631 | 0.249962 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203208148 | aaattagccaggcat[C/G]gtggtacatgcctgt | 65065 |
rs6723485 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203168414 | aacatggtgaaacac[C/T]atctctactaataca | 65065 |
rs6724970 | snp | G/T | | | intron-variant | NBEAL1 | GRCh38.p7 | 2:203103318 | tctgtctgccaccca[G/T]gctggagtccagtgg | 65065 |
rs6725247 | snp | A/G | 0.200492 | 0.245049 | intron-variant | NBEAL1 | GRCh38.p7 | 2:203156713 | CTGAGCAACGGTATC[A/G]TTTGAGAAGTTAAGG | 65065 |