SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs915177 | snp | A/C | 1.64738e-05 | 0.00286995 | intron-variant | CUL7 | GRCh38.p7 | 6:43051567 | ACTTGTGAACAAGAT[A/C]TAGGGTCCAGGCCTT | 9820 |
rs1079325 | snp | C/T | 0.222928 | 0.24853 | intron-variant, synonymous-codon | CUL7 | GRCh38.p7 | 6:43047968 | CATTCACATGGTTCA[C/T]AAATCAAAACGCTCT | 9820 |
rs2273917 | snp | C/T | 0.322113 | 0.239374 | synonymous-codon | CUL7 | GRCh38.p7 | 6:43040560 | TGTATCCTCCAGCTT[C/T]AGGAGTTCCTGATCC | 9820 |
rs2273918 | snp | C/T | 0.312348 | 0.242101 | intron-variant, downstream-variant-500B | CUL7 | GRCh38.p7 | 6:43045924 | TAGGATAGGGCCAGA[C/T]AGAAGCAGGAGGGCA | 9820 |
rs3737186 | snp | C/T | 0.16089 | 0.23358 | synonymous-codon, downstream-variant-500B, utr-variant-5-prime | CUL7, MRPL2 | GRCh38.p7 | 6:43053781 | GGCTGCCGACTCACG[C/T]GGGTGCAGCTCTGTT | 9820 |
rs3749902 | snp | A/G | 0.00308932 | 0.0391806 | intron-variant | CUL7 | GRCh38.p7 | 6:43044932 | GGACACTGAGATAAC[A/G]TATGCTTCAAGCCCC | 9820 |
rs3805945 | snp | A/G | 0.23846 | 0.249734 | intron-variant | CUL7 | GRCh38.p7 | 6:43039244 | AAAACACATGGGGCA[A/G]TCCTCGAAGGCACTG | 9820 |
rs3831256 | in-del | -/C | 0.411242 | 0.191052 | intron-variant, downstream-variant-500B | CUL7, MRPL2 | GRCh38.p7 | 6:43053535 | TCACCCAACCTCGGT[-/C]CCCCATCCTACCGTG | 9820 |
rs4711735 | snp | C/T | 0.440746 | 0.161604 | intron-variant | CUL7 | GRCh38.p7 | 6:43043995 | tcagcctgaccaaca[C/T]ggagaaaccccacct | 9820 |
rs4711736 | snp | C/T | 0.280256 | 0.248162 | intron-variant | CUL7 | GRCh38.p7 | 6:43044112 | TGGATCACCTGAGAT[C/T]GGGAGTTCGAGACCA | 9820 |
rs4711737 | snp | C/G/T | 0.00119737 | 0.0244387 | intron-variant | CUL7 | GRCh38.p7 | 6:43044471 | gccattgcactccag[C/G/T]gtgggtaacgagcga | 9820 |
rs4711738 | snp | A/G | 0.274196 | 0.248826 | synonymous-codon | CUL7 | GRCh38.p7 | 6:43052450 | AATGAGGGACTTCAC[A/G]TCGGTTTCCATCTCC | 9820 |
rs7744819 | snp | C/T | 0.439363 | 0.163222 | intron-variant | CUL7 | GRCh38.p7 | 6:43041541 | ccaagaggttgaggc[C/T]gcagtgagctgtgac | 9820 |
rs7745432 | snp | C/G | 0.439641 | 0.162899 | intron-variant | CUL7 | GRCh38.p7 | 6:43041770 | caacactttgggagg[C/G]tgaggcgggcggatc | 9820 |
rs7774330 | snp | C/T | 0.00704771 | 0.0589422 | missense, utr-variant-5-prime | CUL7 | GRCh38.p7 | 6:43048549 | GGGGAGTGTTGGGAC[C/T]CTGAGATGGGGGTTC | 9820 |
rs9381231 | snp | C/T | 0.0457896 | 0.144216 | missense, intron-variant | CUL7 | GRCh38.p7 | 6:43046561 | GGGATGTTGATGGGT[C/T]GGTGGGTTCGTCTGT | 9820 |
rs9394939 | snp | C/T | 0.0456902 | 0.144075 | synonymous-codon, intron-variant | CUL7 | GRCh38.p7 | 6:43046560 | AGGGATGTTGATGGG[C/T]TGGTGGGTTCGTCTG | 9820 |
rs9471998 | snp | C/T | 0.410737 | 0.191478 | upstream-variant-2KB, intron-variant | CUL7, MRPL2 | GRCh38.p7 | 6:43055358 | AGCAAGACTCTGTCT[C/T]GAAAAAAAAAAAATT | 9820 |
rs9471999 | snp | C/T | 0.278783 | 0.248338 | upstream-variant-2KB, intron-variant | CUL7, MRPL2 | GRCh38.p7 | 6:43055633 | CCTGGGGAAAGAAGC[C/T]GATTTGCCACCCTCC | 9820 |
rs10428718 | snp | C/T | 0.203575 | 0.245652 | intron-variant | CUL7 | GRCh38.p7 | 6:43044028 | ACTAAAAATATAAAA[C/T]TAGCCAGGTGTGGGT | 9820 |
rs10456521 | snp | A/G | 0.0114609 | 0.0748272 | upstream-variant-2KB, utr-variant-3-prime, missense | CUL7, MRPL2 | GRCh38.p7 | 6:43054293 | CTTTGGGCAGAAGCA[A/G]AAGGCAGCTTCACGT | 9820 |
rs11753750 | snp | A/G | 0.0209421 | 0.100162 | downstream-variant-500B | CUL7 | GRCh38.p7 | 6:43037267 | GCCAGTTCCACAAAC[A/G]AGGAGAATTAAACCC | 9820 |
rs11758414 | snp | A/C | 0 | 0 | intron-variant | CUL7 | GRCh38.p7 | 6:43044674 | ATAATCCAGGTGGTT[A/C]TAGGGTAGAGCAAGA | 9820 |
rs11961678 | snp | A/G | 0.269538 | 0.249235 | intron-variant | CUL7 | GRCh38.p7 | 6:43041138 | AGGTGAGTGGGGAGG[A/G]GGGATGAGGGTCTGG | 9820 |
rs11962268 | snp | C/T | 0.410737 | 0.191478 | upstream-variant-2KB, intron-variant | CUL7, MRPL2 | GRCh38.p7 | 6:43054787 | TACAAAAATAAAAAA[C/T]ATTAGCCAGGGTCAG | 9820 |
rs11967184 | snp | A/G | 0.411074 | 0.191194 | upstream-variant-2KB, intron-variant | CUL7, MRPL2 | GRCh38.p7 | 6:43054876 | TGAGCTCAGGAGTTC[A/G]AGACCAGCCTGGCCA | 9820 |
rs12203333 | snp | A/G | 3.29451e-05 | 0.00405851 | synonymous-codon | CUL7 | GRCh38.p7 | 6:43040166 | CTCACTCTTGTTGTA[A/G]AAGTTGGAGTATCTG | 9820 |
rs12209367 | snp | A/G/T | 0.0121947 | 0.0771273 | intron-variant | CUL7 | GRCh38.p7 | 6:43043767 | ggtagggtggtttac[A/G/T]cctgtaatcccagca | 9820 |
rs13190828 | snp | C/G | 0 | 0 | intron-variant | CUL7 | GRCh38.p7 | 6:43053029 | AAGGAAGGTCCCCAA[C/G]ACCCTGTGGCCTGGA | 9820 |
rs16896227 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | CUL7 | GRCh38.p7 | 6:43042310 | TGCTTCTTGCATTTT[A/G]GCTCATCAATTGTGG | 9820 |
rs28554041 | snp | A/C | | | missense | CUL7 | GRCh38.p7 | 6:43038374 | CCAAGTTCTGGCCGT[A/C]TTCACCCTCAGCTTG | 9820 |
rs28666838 | snp | A/G | 0 | 0 | intron-variant, upstream-variant-2KB | CUL7 | GRCh38.p7 | 6:43050420 | CATAGGGAAAGAAAG[A/G]GGGAAGGGGAAGGGA | 9820 |
rs34049794 | snp | C/T | 8.23934e-05 | 0.00641794 | missense | CUL7 | GRCh38.p7 | 6:43045332 | CGACAGAGCTGCTCC[C/T]GGAACACTGGCCAGA | 9820 |
rs34298469 | in-del | -/G | 0.00189708 | 0.0307399 | upstream-variant-2KB, utr-variant-3-prime | CUL7, MRPL2 | GRCh38.p7 | 6:43054239 | GTAACAGATTAAAAC[-/G]GGGGGGGGGGGCATT | 9820 |
rs34475602 | in-del | -/TC | 0.44755 | 0.153212 | downstream-variant-500B | CUL7 | GRCh38.p7 | 6:43037425 | GCCTGGTCCTCTCAA[-/TC]TCTCTGCCTAGAGGG | 9820 |
rs34502847 | in-del | -/A | | | utr-variant-3-prime | CUL7 | GRCh38.p7 | 6:43037628 | TCATATAATCAAACT[-/A]CTTGGGTTTTATTTC | 9820 |
rs34563914 | in-del | -/G | | | intron-variant | CUL7 | GRCh38.p7 | 6:43039046 | GGAGTTGGTGTTGGA[-/G]GGGAGGGTGCACGCT | 9820 |
rs34574340 | snp | C/T | 0.0142322 | 0.0831476 | missense, utr-variant-3-prime | CUL7 | GRCh38.p7 | 6:43046341 | GTCAGCTTGCTGGCC[C/T]GGTGCGGGTTGGAGG | 9820 |
rs34879435 | snp | A/C | 0.0298439 | 0.118454 | missense | CUL7 | GRCh38.p7 | 6:43047043 | CCCAGCTGATTCAGC[A/C]CCACGGCATAGTCCC | 9820 |
rs34883837 | in-del | -/A | | | frameshift-variant | CUL7 | GRCh38.p7 | 6:43046952 | TCACACTTGAACACC[-/A]ATGTCCCGCAGCTCC | 9820 |
rs34916226 | snp | C/T | 0.000924703 | 0.0214825 | missense | CUL7 | GRCh38.p7 | 6:43044875 | GCTCCTGGCGCAGAG[C/T]ACCGTTGAGTCTGGG | 9820 |
rs34935043 | in-del | -/C | | | intron-variant | CUL7 | GRCh38.p7 | 6:43041931 | TCGCTTGAACCTGGG[-/C]AGGCGGAGGTTGTGG | 9820 |
rs35481391 | in-del | -/C | | | intron-variant, upstream-variant-2KB | CUL7 | GRCh38.p7 | 6:43050847 | ACTCTTTTCACCATT[-/C]CCAATCTTACCTAAA | 9820 |
rs35607536 | in-del | -/A | 0.475525 | 0.107882 | intron-variant | CUL7 | GRCh38.p7 | 6:43044498 | GCGAAAATCTGTCTC[-/A]AAAAAAAAAAAAAGA | 9820 |
rs35608164 | in-del | -/A | | | frameshift-variant, downstream-variant-500B | CUL7 | GRCh38.p7 | 6:43046076 | GTCCTCACTAGCCAC[-/A]AGCAGAGTCAGTTGC | 9820 |
rs35893653 | in-del | -/G | | | frameshift-variant | CUL7 | GRCh38.p7 | 6:43037746 | AGGGCACACCCCGGG[-/G]AGCGAATCTGTAGGG | 9820 |
rs36004037 | snp | C/T | 0.00399043 | 0.0444892 | missense | CUL7 | GRCh38.p7 | 6:43041026 | TGGGCTCCACCGATC[C/T]GGCTGCCCTGGATCT | 9820 |
rs36071170 | snp | C/G | 0.152778 | 0.230321 | missense | CUL7 | GRCh38.p7 | 6:43040983 | AGCTTGCAGGCATTG[C/G]TGCAGCTGTGCCAGC | 9820 |
rs41274912 | snp | A/G | 0.0166201 | 0.0896315 | missense | CUL7 | GRCh38.p7 | 6:43038670 | AGCCCTGAGAACGCC[A/G]GCAGACTCTCCACAG | 9820 |
rs41274914 | snp | A/G | 0.000983726 | 0.0221562 | intron-variant | CUL7 | GRCh38.p7 | 6:43046734 | AGAGCAGGCCCAGAT[A/G]GGGCAGAGGGGAAGG | 9820 |
rs41274916 | snp | C/T | 0.413582 | 0.189052 | intron-variant | CUL7 | GRCh38.p7 | 6:43051928 | ACATACACACACACA[C/T]GCACATAAACACGAT | 9820 |
rs45490097 | snp | A/G | 0.00478085 | 0.0486577 | upstream-variant-2KB, intron-variant | CUL7, MRPL2 | GRCh38.p7 | 6:43055838 | AGATGTGGAACCATG[A/G]GTTCAGACTCTCCTT | 9820 |
rs45574335 | snp | C/T | 0.00116937 | 0.024152 | missense, downstream-variant-500B | CUL7 | GRCh38.p7 | 6:43046251 | CTGATGAGGATGCCC[C/T]GGCGCATGTGCAGGG | 9820 |
rs55724493 | snp | A/G | 0.00999617 | 0.0699869 | intron-variant | CUL7 | GRCh38.p7 | 6:43046844 | GTTTCATATTCTGAT[A/G]CCACTCTAAGCCCAC | 9820 |
rs55890439 | snp | A/G | 0.172674 | 0.237741 | intron-variant | CUL7 | GRCh38.p7 | 6:43053495 | AGGTGGGGGAGAGGG[A/G]ATTAGGCCCCATAAG | 9820 |
rs56027624 | snp | C/G | | | upstream-variant-2KB, utr-variant-3-prime, missense | CUL7, MRPL2 | GRCh38.p7 | 6:43054277 | AGTACAGGGATATCA[C/G]CTTTGGGCAGAAGCA | 9820 |
rs57315945 | snp | A/G | | | upstream-variant-2KB, utr-variant-3-prime, missense | CUL7, MRPL2 | GRCh38.p7 | 6:43054287 | TATCAGCTTTGGGCA[A/G]AAGCAGAAGGCAGCT | 9820 |
rs57516312 | snp | C/T | 0.0486741 | 0.148216 | intron-variant | CUL7 | GRCh38.p7 | 6:43045118 | CCAGCCCCCTCCCCA[C/T]GCATATTAAACCTCC | 9820 |
rs57808685 | snp | A/G | | | upstream-variant-2KB, intron-variant | CUL7, MRPL2 | GRCh38.p7 | 6:43054493 | TTCCAGCACCTGACA[A/G]AGAAAACAGATGGAG | 9820 |
rs58059598 | in-del | -/CA | | | intron-variant, upstream-variant-2KB | CUL7 | GRCh38.p7 | 6:43050605 | ACACACACACACACA[-/CA]GGATGCCTTCTCCTT | 9820 |
rs58180132 | in-del | -/A | | | upstream-variant-2KB, utr-variant-3-prime, downstream-variant-500B | CUL7, MRPL2 | GRCh38.p7 | 6:43054172 | CCCGCAAAAAAAAAA[-/A]CAACAACAAAAAAAA | 9820 |
rs58300975 | snp | A/G | 0.0566069 | 0.158427 | intron-variant | CUL7 | GRCh38.p7 | 6:43043901 | AAATAGAAAAGGCCA[A/G]GTGCGGTGGCTCATG | 9820 |
rs58432428 | in-del | -/CT | | | downstream-variant-500B | CUL7 | GRCh38.p7 | 6:43037426 | GTCCTCTCAATCTCT[-/CT]GCCTAGAGGGGGTGC | 9820 |
rs58470539 | snp | C/T | 0.352504 | 0.228019 | upstream-variant-2KB, utr-variant-3-prime, downstream-variant-500B | CUL7, MRPL2 | GRCh38.p7 | 6:43054205 | AAAAAAAACAAAAAA[C/T]ACCCAAAACAAAACC | 9820 |
rs58659748 | snp | G/T | 0.110872 | 0.20771 | intron-variant | CUL7 | GRCh38.p7 | 6:43039161 | GCCTTCTCTGGGCCT[G/T]CCTCTATGGCAAGCC | 9820 |
rs59430205 | in-del | -/CACACACACACACACA | | | intron-variant, upstream-variant-2KB | CUL7 | GRCh38.p7 | 6:43050591 | ACACACACACACACA[-/CACACACACACACACA]GGATGCCTTCTCCTT | 9820 |
rs61207524 | in-del | -/T | | | intron-variant | CUL7 | GRCh38.p7 | 6:43048781 | CTTTTTTTTTTTTTT[-/T]CTTTGAGACGGAGTC | 9820 |
rs61259591 | snp | A/G | | | upstream-variant-2KB, intron-variant | CUL7, MRPL2 | GRCh38.p7 | 6:43054508 | GAGAAAACAGATGGA[A/G]ATTCTGTACAATGGG | 9820 |
rs61437700 | snp | C/T | 0.0187592 | 0.0950143 | synonymous-codon | CUL7 | GRCh38.p7 | 6:43037991 | GGGAGGACACGGGCC[C/T]TTCTGCCAAGCCTCC | 9820 |
rs61731584 | snp | A/G | 0.0011339 | 0.0237836 | synonymous-codon | CUL7 | GRCh38.p7 | 6:43037871 | CACCTGGGGCCGGTC[A/G]TCATGGCGTCTCAGC | 9820 |
rs61732148 | snp | A/G | 0.0414249 | 0.137827 | missense, utr-variant-3-prime | CUL7 | GRCh38.p7 | 6:43046284 | ATGTAGTGGGAGCCG[A/G]CGCTGCCGTTGGACT | 9820 |
rs61748654 | multinucleotide-polymorphism | CC/TT | 0 | 0 | missense, intron-variant | CUL7 | GRCh38.p7 | 6:43046560 | AGGGATGTTGATGGG[CC/TT]GGTGGGTTCGTCTGT | 9820 |
rs61750320 | snp | C/T | 0.00278099 | 0.0371855 | missense, utr-variant-3-prime | CUL7 | GRCh38.p7 | 6:43046282 | TGATGTAGTGGGAGC[C/T]GGCGCTGCCGTTGGA | 9820 |
rs61750321 | snp | C/T | 0.000527174 | 0.0162268 | missense | CUL7 | GRCh38.p7 | 6:43045660 | AGGAGGATCACCCGG[C/T]TGGCAGAGGGCATCA | 9820 |
rs61750322 | snp | C/T | 0.00266545 | 0.0364091 | synonymous-codon, upstream-variant-2KB | CUL7 | GRCh38.p7 | 6:43051340 | CAGTTGACCCCTCTC[C/T]CCACTCAACTCCTCA | 9820 |
rs61752334 | snp | A/C | 0.000413295 | 0.0143693 | missense | CUL7 | GRCh38.p7 | 6:43044883 | CGCAGAGCACCGTTG[A/C]GTCTGGGGGTGAGAA | 9820 |
rs62417467 | snp | C/G | 0.0103295 | 0.0711199 | intron-variant | CUL7 | GRCh38.p7 | 6:43039359 | TAGGAGGCGCCCTGA[C/G]CACAGGTCTGAGCCT | 9820 |
rs71547827 | in-del | -/G | 0.5 | 0 | intron-variant, upstream-variant-2KB | CUL7 | GRCh38.p7 | 6:43049741 | TGGTAGGGGTGGGGG[-/G]TCTCTCTGCACACAT | 9820 |
rs71547828 | in-del | -/CACA | 0.5 | 0 | intron-variant, upstream-variant-2KB | CUL7 | GRCh38.p7 | 6:43050603 | ACACACACACACACA[-/CACA]GGATGCCTTCTCCTT | 9820 |
rs71547829 | in-del | -/G | 0.5 | 0 | upstream-variant-2KB, utr-variant-3-prime, frameshift-variant | CUL7, MRPL2 | GRCh38.p7 | 6:43054318 | CACGTAACTCTTCAT[-/G]GGGGGGTAGTGGCCG | 9820 |
rs71560791 | snp | A/G | 0.5 | 0 | intron-variant, downstream-variant-500B | CUL7 | GRCh38.p7 | 6:43046107 | CTGGGAGTGGGGAGG[A/G]AAAACCATTTGGAAC | 9820 |
rs72867511 | snp | C/T | 0.031825 | 0.122064 | intron-variant | CUL7 | GRCh38.p7 | 6:43053187 | GAGGGAGATCGTGAG[C/T]GTGTGTGAAAAGGGG | 9820 |
rs73733789 | snp | A/G | 0.00496559 | 0.0495796 | synonymous-codon | CUL7 | GRCh38.p7 | 6:43037697 | CTAGGGCTACCGGAA[A/G]GTAGAGAAGCTCTGG | 9820 |
rs73733790 | snp | A/C | 0.0740185 | 0.177568 | intron-variant | CUL7 | GRCh38.p7 | 6:43046738 | CAGGCCCAGATGGGG[A/C]AGAGGGGAAGGGGAA | 9820 |
rs73733791 | snp | C/T | 0.00817063 | 0.0633921 | missense, upstream-variant-2KB | CUL7 | GRCh38.p7 | 6:43050999 | CCGTTGTTGCTCTGC[C/T]GAAACTCGCCCTCAT | 9820 |
rs74432118 | snp | C/T | | | upstream-variant-2KB, downstream-variant-500B | CUL7, MRPL2 | GRCh38.p7 | 6:43053999 | CCTGCGGAAGTGCCC[C/T]CCCCGTTTCCCAAAG | 9820 |
rs74800019 | snp | G/T | 0.5 | 0 | intron-variant | CUL7 | GRCh38.p7 | 6:43048944 | CTAATTTTTTTTTTT[G/T]TGTAGTTTTAGTAGA | 9820 |
rs75308938 | snp | A/T | 0.5 | 0 | intron-variant | CUL7 | GRCh38.p7 | 6:43041680 | GGGAAGGGAAGGGAA[A/T]GGAAGGGGAAGGGAA | 9820 |
rs75475318 | snp | G/T | 0.0170251 | 0.090679 | upstream-variant-2KB, intron-variant | CUL7, MRPL2 | GRCh38.p7 | 6:43055684 | GGGACTTACACAGGG[G/T]ACATACCCCACATGC | 9820 |
rs75593880 | snp | G/T | 0.0333695 | 0.124785 | downstream-variant-500B | CUL7 | GRCh38.p7 | 6:43037296 | CCTGCTCGATAATCT[G/T]CCCAAGTTACAAACC | 9820 |
rs75669167 | snp | A/G | | | upstream-variant-2KB, downstream-variant-500B | CUL7, MRPL2 | GRCh38.p7 | 6:43053995 | CCCTCCTGCGGAAGT[A/G]CCCTCCCCGTTTCCC | 9820 |
rs75773293 | snp | A/G | 0.0283256 | 0.115587 | synonymous-codon, intron-variant | CUL7 | GRCh38.p7 | 6:43052126 | ACTGATGAGATCAGA[A/G]GCTCCTGCCACAGTG | 9820 |
rs76570218 | snp | G/T | | | missense | CUL7 | GRCh38.p7 | 6:43051697 | AGAGCACAGCGGCTG[G/T]CAAAATCCAGGTGTT | 9820 |
rs76588719 | snp | C/T | 0.00119737 | 0.0244387 | downstream-variant-500B | CUL7 | GRCh38.p7 | 6:43037521 | CCTTGGCATATCATG[C/T]GACAGCCTCAGTGCC | 9820 |
rs76598322 | snp | G/T | 1.64749e-05 | 0.00287005 | intron-variant, upstream-variant-2KB | CUL7 | GRCh38.p7 | 6:43050189 | CAAGGGGCACAAGGA[G/T]GTCACTAGCAACTCA | 9820 |
rs76742283 | snp | G/T | | | upstream-variant-2KB, intron-variant, missense | CUL7, MRPL2 | GRCh38.p7 | 6:43055583 | GCTGGATAATGGCTG[G/T]GCCATTCACCTTCCG | 9820 |
rs76968006 | snp | C/T | 0.0505692 | 0.150756 | intron-variant | CUL7 | GRCh38.p7 | 6:43039340 | GAAACAATGTCTCCC[C/T]TATTAGGAGGCGCCC | 9820 |
rs77043495 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant, upstream-variant-2KB | CUL7 | GRCh38.p7 | 6:43049884 | TCCACTTTTCATCCT[A/G]AGCCTTCCAAATGCT | 9820 |
rs77965460 | snp | A/G | 0.00216616 | 0.0328388 | missense | CUL7 | GRCh38.p7 | 6:43043120 | GTCAGGTTTCTCATG[A/G]TGCTGCTTGGAAGGC | 9820 |
rs77976555 | snp | C/T | 1.68957e-05 | 0.00290647 | missense | CUL7 | GRCh38.p7 | 6:43037897 | TCAGCGTGCCCTTGC[C/T]CAGGAGGTGTAGGAT | 9820 |