SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs12893 | snp | A/G | 0 | 0 | missense, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47009294 | TCCTCGGGAGAGACG[A/G]AATACAACCCTACTG | 23218 |
rs749511 | snp | G/T | 0.440195 | 0.162252 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46994245 | ATGGGGAATGGACAC[G/T]TGTAGGCCCACCTCC | 23218 |
rs749512 | snp | C/T | 0.471775 | 0.115393 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46994410 | TCTGAGTTTGCCCTC[C/T]GGCCCATGTATGTGT | 23218 |
rs936178 | snp | C/T | 0.0970103 | 0.197722 | intron-variant, upstream-variant-2KB | NBEAL2 | GRCh38.p7 | 3:46986607 | GCCCCTCAGTCAAGC[C/T]AGTCACTCAAAATGT | 23218 |
rs936185 | snp | A/G | 0.0581099 | 0.160244 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46994135 | CCCTGGAGCAAAGCA[A/G]GCGAGCTGGGAGGTG | 23218 |
rs1048808 | snp | A/C | 0.0898896 | 0.192002 | utr-variant-3-prime, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47009539 | GCCCTGAGGGCCAGC[A/C]CTGGCGTCTGCGGCC | 23218 |
rs1048812 | snp | A/G | 0 | 0 | utr-variant-3-prime, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47009496 | GGATTGGCGGGCGGA[A/G]GTCCCGCCCCTCGCC | 23218 |
rs1063315 | snp | G/T | 0 | 0 | utr-variant-3-prime, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47009485 | TACCCCCTCAGGGAT[G/T]GGCGGGCGGAAGTCC | 23218 |
rs1079276 | snp | C/G | 0.497356 | 0.0370202 | synonymous-codon, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47004249 | TCCTAGCCAGACTCC[C/G]AGACCCCAGCCTGGC | 23218 |
rs1108301 | snp | A/G | 0.484279 | 0.0872533 | intron-variant, upstream-variant-2KB | NBEAL2 | GRCh38.p7 | 3:46987936 | TCCCCCTCCCCCACC[A/G]TGACTCTGCGCTTCC | 23218 |
rs1473382 | snp | C/T | 0.117188 | 0.211804 | intron-variant, upstream-variant-2KB | NBEAL2, CCDC12 | GRCh38.p7 | 3:46982365 | AGTTGTGGGTCTGGG[C/T]GGGGATGGAGAGGGG | 23218 |
rs1473383 | snp | G/T | 0.116838 | 0.211584 | intron-variant, upstream-variant-2KB | NBEAL2, CCDC12 | GRCh38.p7 | 3:46982452 | CACCCCCTCCCCCTG[G/T]GGGCCCGGCTCAACT | 23218 |
rs1814564 | snp | C/G | 0.124144 | 0.21601 | intron-variant | NBEAL2, CCDC12 | GRCh38.p7 | 3:46981391 | AGGTTGCAGTGAGCC[C/G]AGATCGCGCCACTGC | 23218 |
rs1869869 | snp | C/T | 0.49706 | 0.0382258 | intron-variant, upstream-variant-2KB | NBEAL2 | GRCh38.p7 | 3:46986343 | CAGGAACCTCCCACC[C/T]TCCTGGTGGCCATCA | 23218 |
rs1869870 | snp | C/T | 0.0973687 | 0.197999 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46985992 | CAATGTGTCGGGGTA[C/T]GGGAGTCCCTCAGGG | 23218 |
rs1869871 | snp | C/T | 0.49703 | 0.0384237 | intron-variant, upstream-variant-2KB | NBEAL2, CCDC12 | GRCh38.p7 | 3:46982458 | CTCCCCCTGGGGGCC[C/T]GGCTCAACTGGGGGC | 23218 |
rs2305632 | snp | A/G | 0.104259 | 0.203124 | intron-variant | NBEAL2 | GRCh38.p7 | 3:47001223 | GCTTCAGGAAGCCTC[A/G]GGGGAAGGAGAGAAG | 23218 |
rs2305633 | snp | C/G/T | 0.000268595 | 0.0115856 | intron-variant | NBEAL2 | GRCh38.p7 | 3:47001477 | AGCCACATGAACACT[C/G/T]ATGTTCATGCAAGCC | 23218 |
rs2305634 | snp | C/T | 0.491376 | 0.0650963 | synonymous-codon, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47002048 | GCTGAACACCTCTTC[C/T]TTGGAGTCAGCCACT | 23218 |
rs2305635 | snp | A/G | 0.488341 | 0.0754561 | synonymous-codon, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47002132 | CTGCTCCTGGCTGGT[A/G]CCACTGGTGCGCACG | 23218 |
rs2305637 | snp | C/T | 0.265132 | 0.249542 | missense, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47004356 | ACCTAAGCAGCCGCT[C/T]CCCCCAGGAGATGCT | 23218 |
rs2305638 | snp | C/G | 0.492525 | 0.0606754 | intron-variant | NBEAL2 | GRCh38.p7 | 3:47005352 | TGGTGGGCAGACTAG[C/G]GGGCAGATAAGGGGA | 23218 |
rs2305639 | snp | C/T | 2.35774e-05 | 0.00343339 | synonymous-codon, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47009094 | GGAGGATGGCAAGCT[C/T]ATCGTGGTGGTCGCG | 23218 |
rs2305640 | snp | A/G | 0.288234 | 0.247059 | utr-variant-3-prime, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47009536 | GCCGCCCTGAGGGCC[A/G]GCACTGGCGTCTGCG | 23218 |
rs2385872 | snp | A/G | 0.117188 | 0.211804 | intron-variant | NBEAL2, CCDC12 | GRCh38.p7 | 3:46981203 | TAATCCCAGCACTTT[A/G]GGAGGCCGAGGCGGG | 23218 |
rs3214838 | in-del | -/G | 0.493156 | 0.0580971 | utr-variant-3-prime, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47009419 | GGGGTGGGCAGCCCA[-/G]GGGGGTGAGCGGGGC | 23218 |
rs3816531 | snp | C/T | 0.113477 | 0.209432 | intron-variant | NBEAL2 | GRCh38.p7 | 3:47006072 | TATGAGGGTGGGCAG[C/T]GCGCTGGACTCCAGT | 23218 |
rs4234465 | snp | C/G | 0.499154 | 0.0205497 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46985395 | ACCTTGTTTGCCAAG[C/G]TGACAGGGATCATTG | 23218 |
rs4257579 | snp | C/T | 0 | 0 | intron-variant | NBEAL2 | GRCh38.p7 | 3:47007035 | CAGGCCTAGCTATGC[C/T]TGAGTACTATCAGAT | 23218 |
rs4282092 | snp | C/G | 0.0955749 | 0.196603 | intron-variant, utr-variant-5-prime | NBEAL2 | GRCh38.p7 | 3:46989747 | AAGATGTCTTCTCTT[C/G]TCTCTGTCCCTAAAC | 23218 |
rs4478107 | snp | C/T | 0.0966517 | 0.197444 | intron-variant, upstream-variant-2KB | NBEAL2 | GRCh38.p7 | 3:46987746 | TTACAAGCATGAGGT[C/T]GGCGCCTGGAAGAGC | 23218 |
rs4682831 | snp | C/T | 0.499663 | 0.0129749 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46985648 | AAGGTTGTGGGAATG[C/T]GGAAGGCCGGTGTCC | 23218 |
rs4682832 | snp | C/T | 0.116838 | 0.211584 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46984645 | GGGACAGGGTGGTGT[C/T]TATGTGGAATAGCCT | 23218 |
rs4682833 | snp | C/T | 0.11963 | 0.213316 | intron-variant | NBEAL2, CCDC12 | GRCh38.p7 | 3:46981725 | CATCCCTCACACTCA[C/T]CAGCTGGTTTAAGCC | 23218 |
rs4683276 | snp | A/G | 0.114387 | 0.210022 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46999205 | AAGGCAGCTTCATCC[A/G]CTGGCCCAAGGCCTG | 23218 |
rs4683277 | snp | C/G | 0.0952156 | 0.196321 | intron-variant, utr-variant-5-prime | NBEAL2 | GRCh38.p7 | 3:46990852 | TGCAAATCTCTTGCT[C/G]CCTCTGCCCTGTGAC | 23218 |
rs4683278 | snp | A/C | 0.282895 | 0.247826 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46985106 | GTTTGCTCTGCTGGA[A/C]TGCCCCCATCAGGGG | 23218 |
rs4683279 | snp | C/T | 0.116838 | 0.211584 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46984656 | CAAGCAGAAGTGGGA[C/T]AGGGTGGTGTTTATG | 23218 |
rs5848810 | in-del | -/C | 0.494315 | 0.0530107 | intron-variant | NBEAL2 | GRCh38.p7 | 3:47005686 | ATCCCGACTGCCCCC[-/C]TGGCCACTCCACCAT | 23218 |
rs6442051 | snp | G/T | 0.158632 | 0.232706 | intron-variant | NBEAL2, CCDC12 | GRCh38.p7 | 3:46981892 | GGAGGTGGTTATGGC[G/T]CATATCTGTGCTGAG | 23218 |
rs6798959 | snp | C/T | 0.440024 | 0.162453 | intron-variant | NBEAL2 | GRCh38.p7 | 3:47004732 | AGACCTGGCCTCTGT[C/T]CCCTGCCAACCCCCA | 23218 |
rs6808742 | snp | A/G | 0.498182 | 0.0300969 | downstream-variant-500B, upstream-variant-2KB | NBEAL2, NRADDP | GRCh38.p7 | 3:47010022 | TCCTTCGCCGGGCAG[A/G]GGCGACAACACCCGA | 23218 |
rs7432522 | snp | A/G | | | intron-variant | NBEAL2 | GRCh38.p7 | 3:47005870 | AGGAACCACAGGCAA[A/G]CGGCAGGCAGCCGGG | 23218 |
rs7625011 | snp | C/T | 0.112631 | 0.208878 | upstream-variant-2KB, intron-variant | CCDC12, NBEAL2 | GRCh38.p7 | 3:46978437 | GGAACGAGTAGCACC[C/T]CTCTGGGCCCAGAAA | 23218 |
rs7630415 | snp | A/G | 0.029116 | 0.117091 | intron-variant, upstream-variant-2KB | NBEAL2 | GRCh38.p7 | 3:46987492 | CCTGGGAGGGGCTTA[A/G]AGATTAGAGCAGATA | 23218 |
rs7631423 | snp | A/C/G | 0.539161 | 0.13547 | intron-variant | NBEAL2, CCDC12 | GRCh38.p7 | 3:46980653 | TCCTCCTGAGCTCCC[A/C/G]ACCCATCTCAGAAAA | 23218 |
rs7643868 | snp | C/G | 0.116838 | 0.211584 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46984556 | GTCCTGGTGATGTAG[C/G]CAGAAGTCACGTTTA | 23218 |
rs10433549 | snp | C/T | 0.433527 | 0.169758 | intron-variant, utr-variant-5-prime | NBEAL2 | GRCh38.p7 | 3:46989943 | CATCTCCACCCATCC[C/T]GGAGACACAGGAGGT | 23218 |
rs11130112 | snp | G/T | 0.494187 | 0.0535994 | intron-variant, upstream-variant-2KB | NBEAL2, CCDC12 | GRCh38.p7 | 3:46983005 | GGCCGGAGCAGCAGT[G/T]ATGTTCAGCAACCCC | 23218 |
rs11277723 | in-del | -/GGCGCGCGCG | 0 | 0 | intron-variant | NBEAL2, CCDC12 | GRCh38.p7 | 3:46980029 | GTAGCCGCGCGCGCG[-/GGCGCGCGCG]CGCAGGGCATGCTCC | 23218 |
rs11283920 | in-del | -/GTTCCCTGCCAACCCCCAGAG | 0.435407 | 0.167703 | intron-variant | NBEAL2 | GRCh38.p7 | 3:47004730 | GAAGACCTGGCCTCT[-/GTTCCCTGCCAACCCCCAGAG]GTCCCCAGCCTCACT | 23218 |
rs11396344 | in-del | -/A | 0.0944967 | 0.195752 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46996645 | AGAAGCTAGGGGTCC[-/A]GGGGGGAGAAGGCAT | 23218 |
rs11706212 | snp | A/T | 0.111224 | 0.207945 | intron-variant, upstream-variant-2KB | NBEAL2, CCDC12 | GRCh38.p7 | 3:46982872 | AGAGCTCCCCCAGGG[A/T]AGGCATAGGAAGGGC | 23218 |
rs11720139 | snp | C/G | 0.492797 | 0.0620369 | missense, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:46995266 | CTAGCCCTGGAGGCC[C/G]GCTGCCAAGAGCAGC | 23218 |
rs11928558 | snp | A/T | 0.0249721 | 0.108915 | intron-variant | NBEAL2 | GRCh38.p7 | 3:47002632 | GGGGACTGACCTATT[A/T]CCCCCACCCCAGGAG | 23218 |
rs12152493 | snp | A/G | 0.495407 | 0.0477027 | intron-variant, upstream-variant-2KB | NBEAL2 | GRCh38.p7 | 3:46988171 | TGTCTAATGGTACAC[A/G]TGTGTCCTGGGATCC | 23218 |
rs12489851 | snp | C/T | 0.102429 | 0.201799 | synonymous-codon, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47001748 | GCCCCACCTGGCCAA[C/T]GGCACAGCTGATCTC | 23218 |
rs13060581 | snp | C/G | | | intron-variant | NBEAL2 | GRCh38.p7 | 3:46984213 | caggaggctgaggca[C/G]gagaatggtgtgaac | 23218 |
rs13060708 | snp | A/G | | | intron-variant | NBEAL2 | GRCh38.p7 | 3:46984238 | gtgaacctgggaggc[A/G]gagcttgcagtgagt | 23218 |
rs13062185 | snp | A/T | 0.110872 | 0.20771 | upstream-variant-2KB, intron-variant | NBEAL2, CCDC12 | GRCh38.p7 | 3:46979345 | TCATGGTGGTGGTGG[A/T]GATTATTGTTGAAGG | 23218 |
rs13062294 | snp | C/G | | | missense, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47009275 | GCGGCGCATCTCCCA[C/G]GTGTCCTCGGGAGAG | 23218 |
rs13062516 | snp | A/G | 0.111224 | 0.207945 | upstream-variant-2KB, intron-variant | NBEAL2, CCDC12 | GRCh38.p7 | 3:46979533 | CTGGTGGGGCAGGGC[A/G]GCGGGGCACCCTCCC | 23218 |
rs13062681 | snp | A/G | 0.498481 | 0.027514 | upstream-variant-2KB, intron-variant | NBEAL2, CCDC12 | GRCh38.p7 | 3:46979634 | GGCGGCGGTGACTGC[A/G]GCGAAGTGCAGGAAG | 23218 |
rs13066214 | snp | C/T | 0.486243 | 0.0817866 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46992447 | CTTCTTTGCCTCCTC[C/T]ACCCTGTGCCTCCCC | 23218 |
rs13079416 | snp | C/T | 0.117886 | 0.21224 | upstream-variant-2KB, intron-variant | CCDC12, NBEAL2 | GRCh38.p7 | 3:46978678 | CAACTTGGGCCTCAG[C/T]TTCTCCATCTGTAAA | 23218 |
rs13081418 | snp | A/C | 0.418565 | 0.184624 | intron-variant | NBEAL2 | GRCh38.p7 | 3:47005868 | GAAGGAACCACAGGC[A/C]AACGGCAGGCAGCCG | 23218 |
rs13082531 | snp | G/T | 0.111224 | 0.207945 | intron-variant, upstream-variant-2KB | NBEAL2, CCDC12 | GRCh38.p7 | 3:46984020 | TAAAAAAAAATAGTG[G/T]CCAGGCGCGGTGTTT | 23218 |
rs13096025 | snp | A/T | 0.0146672 | 0.084371 | intron-variant, upstream-variant-2KB | NBEAL2 | GRCh38.p7 | 3:46986765 | GGCCTAGAACTAAGG[A/T]CTGGCTTTTAGCATC | 23218 |
rs17079425 | snp | A/G | 0.162799 | 0.234299 | missense, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:46995075 | CACCTCCACCAATCC[A/G]CAACGAGCAGCCGGT | 23218 |
rs17855088 | snp | C/T | | | missense, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47005242 | TATGGCACCCACTAC[C/T]CCAATGCAGCAGGCG | 23218 |
rs34076726 | in-del | -/T | | | intron-variant, upstream-variant-2KB | NBEAL2 | GRCh38.p7 | 3:46989240 | TGGCGGGGCTAACCC[-/T]TCTCTCCCCACACCT | 23218 |
rs34344887 | snp | A/G | 0.495291 | 0.0482933 | intron-variant | NBEAL2 | GRCh38.p7 | 3:47000671 | GCCTGTAGGGCAGAC[A/G]CCTCACAGGGTCCAA | 23218 |
rs34421816 | in-del | -/A | | | downstream-variant-500B, upstream-variant-2KB | NBEAL2, NRADDP | GRCh38.p7 | 3:47010007 | AGGCGCGTTTGCATT[-/A]CCTTCGCCGGGCAGG | 23218 |
rs34421920 | in-del | -/C | | | frameshift-variant, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:46994469 | GAGGTGTTTAAGGAG[-/C]CGCATCGGCTACCCT | 23218 |
rs34422924 | in-del | -/A | | | intron-variant | NBEAL2 | GRCh38.p7 | 3:46984570 | GCAGAAGTCACGTTT[-/A]AGCTTGACATTGTCC | 23218 |
rs34624784 | in-del | -/G | | | intron-variant | NBEAL2 | GRCh38.p7 | 3:46984620 | TGGGGGGACCCCCTA[-/G]GCCTGGGATAGGCTA | 23218 |
rs34642992 | snp | C/G | 0 | 0 | intron-variant | NBEAL2 | GRCh38.p7 | 3:47006836 | AGGACCAAGTTGAAA[C/G]TAAGTGTGATACTCT | 23218 |
rs34848325 | in-del | -/G | | | intron-variant, upstream-variant-2KB | NBEAL2, CCDC12 | GRCh38.p7 | 3:46982654 | ATTAGCTGAATGACT[-/G]GATAGAGGAGGTGGG | 23218 |
rs34973138 | in-del | -/G | | | intron-variant | NBEAL2, CCDC12 | GRCh38.p7 | 3:46980606 | TCCTTGAGGCCCTGA[-/G]GGATGTCTGAAAAGG | 23218 |
rs35132874 | in-del | -/C | | | intron-variant | NBEAL2 | GRCh38.p7 | 3:46994387 | GCCCCTCCAGAGTTT[-/C]CAGGGGGTCTGAGTT | 23218 |
rs35182087 | in-del | -/T | | | intron-variant | NBEAL2 | GRCh38.p7 | 3:46985589 | CTAGTTGGGCATAAG[-/T]TTGGGGTCTCTGTGG | 23218 |
rs35201996 | snp | A/G | 0.135174 | 0.22207 | intron-variant | NBEAL2 | GRCh38.p7 | 3:47005883 | AAACGGCAGGCAGCC[A/G]GGGTTCTGAAGATCA | 23218 |
rs35275864 | in-del | -/T | | | intron-variant, upstream-variant-2KB | NBEAL2, CCDC12 | GRCh38.p7 | 3:46983312 | ACCTGGTCATATTCC[-/T]TTTTTTTTTTTTTTT | 23218 |
rs35427102 | in-del | -/G | | | intron-variant, upstream-variant-2KB | NBEAL2, CCDC12 | GRCh38.p7 | 3:46982564 | AGTTGGAGCTCCTTA[-/G]GGCCCTGGTGGGGAA | 23218 |
rs35443048 | in-del | -/G | | | splice-acceptor-variant | NBEAL2 | GRCh38.p7 | 3:46994453 | ATACTACCTTACACA[-/G]GGAGGTGTTTAAGGA | 23218 |
rs35815137 | in-del | -/C | | | intron-variant, upstream-variant-2KB | NBEAL2 | GRCh38.p7 | 3:46997252 | ACTGCCATCCTCCTT[-/C]CCCCAGGATGTGGTG | 23218 |
rs35897797 | in-del | -/C | | | intron-variant, upstream-variant-2KB | NBEAL2, CCDC12 | GRCh38.p7 | 3:46982630 | CATGCAGTAGGTGCT[-/C]CCTTGGGTATTAGCT | 23218 |
rs35994178 | in-del | -/G | | | intron-variant | NBEAL2, CCDC12 | GRCh38.p7 | 3:46980598 | AGGGTGGGTCCTTGA[-/G]GCCCTGAGGGATGTC | 23218 |
rs36066885 | in-del | -/C | | | intron-variant, upstream-variant-2KB | NBEAL2 | GRCh38.p7 | 3:46986819 | TAGTAGATAAGGCAT[-/C]CCCCTGTGGGGCCTC | 23218 |
rs55769630 | snp | C/T | 1.74458e-05 | 0.0029534 | synonymous-codon, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:47008303 | AACTGTGATCATACA[C/T]ACTGTACGCCGCGGA | 23218 |
rs56217494 | snp | G/T | 0.437542 | 0.165312 | intron-variant | NBEAL2 | GRCh38.p7 | 3:47006962 | GTGACACCTACTCTA[G/T]GACCCCTGGGGACTG | 23218 |
rs59321380 | snp | G/T | 0.155987 | 0.23165 | intron-variant | NBEAL2, CCDC12 | GRCh38.p7 | 3:46980290 | TGGCCAGGAGGCTAG[G/T]GGGAGGGGGACTCAA | 23218 |
rs60398181 | in-del | -/TACAA | 0 | 0 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46984152 | AAAAAAAAAAAAAAA[-/TACAA]AAAATTAGCCAGGCG | 23218 |
rs60811415 | snp | A/G | 0.153 | 0.230415 | intron-variant, upstream-variant-2KB | NBEAL2 | GRCh38.p7 | 3:46988408 | GTGGGAGCAGAAACT[A/G]GGAGGCTGAGAGAAG | 23218 |
rs61729713 | snp | A/G | 0.499137 | 0.0207489 | intron-variant | NBEAL2 | GRCh38.p7 | 3:46985702 | ATCACTTACCTATGG[A/G]CCCTGGAGAGGGCTT | 23218 |
rs61734084 | snp | C/G | 0.00193919 | 0.0310779 | synonymous-codon, upstream-variant-2KB, nc-transcript-variant | NBEAL2 | GRCh38.p7 | 3:46988740 | GAGCATCTCACTGTC[C/G]TCTCTGGAGCCACGA | 23218 |
rs62246379 | snp | A/G | 0.126564 | 0.217402 | intron-variant | NBEAL2, CCDC12 | GRCh38.p7 | 3:46980347 | GGCGCGGCCTGATTG[A/G]GTGGTCGTGGCCAAC | 23218 |
rs66539935 | snp | C/T | 0.498392 | 0.028309 | intron-variant, upstream-variant-2KB | NBEAL2, CCDC12 | GRCh38.p7 | 3:46983837 | GAAGTGTGGGGTCCC[C/T]GTAGAAACAGGGTCA | 23218 |
rs66564457 | snp | A/G | 0.498503 | 0.0273153 | upstream-variant-2KB, intron-variant | CCDC12, NBEAL2 | GRCh38.p7 | 3:46978582 | GGGGAAGGGGGCACG[A/G]GGTGATGGTGGCAGG | 23218 |
rs66590326 | in-del | -/A | | | intron-variant | NBEAL2 | GRCh38.p7 | 3:46996646 | GAAGCTAGGGGTCCG[-/A]GGGGGAGAAGGCATC | 23218 |