SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs7171 | snp | C/G | 0.493969 | 0.05458 | upstream-variant-2KB, utr-variant-3-prime | LTBP4, SHKBP1 | GRCh38.p7 | 19:40591370 | TGGAAGCCAAAGTCA[C/G]CCTCCCCAATAAAGT | 92799 |
rs12704 | snp | C/T | 0 | 0 | upstream-variant-2KB, utr-variant-3-prime | LTBP4, SHKBP1 | GRCh38.p7 | 19:40591354 | CACCTTCCCTCTTTT[C/T]TGGAAGCCAAAGTCA | 92799 |
rs366973 | snp | C/G | 0.0718919 | 0.175435 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40585175 | gcagtggcatgatgt[C/G]agttctctgccacct | 92799 |
rs372038 | snp | C/T | 0.0399052 | 0.1355 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40582095 | atctctactaaaaaa[C/T]ataaaaattagctga | 92799 |
rs392726 | snp | A/G | 0.493293 | 0.0575177 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40589912 | CTCCTTTCATCCCCC[A/G]TGCAGTGGCCACGGC | 92799 |
rs393569 | snp | C/T | 0.488057 | 0.0763479 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40588932 | AGGGCTGGGGGGTTG[C/T]GGCAGTCAGTGGAGC | 92799 |
rs394115 | snp | C/T | 0.0475351 | 0.146656 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40581851 | GTTAGAATTCCAGAC[C/T]GTTTTAGAATCCCAT | 92799 |
rs396118 | snp | C/T | 0.489863 | 0.0704664 | synonymous-codon | SHKBP1 | GRCh38.p7 | 19:40590283 | CAGCACTGTGAAGGC[C/T]GTCGTGGGTGAGCCG | 92799 |
rs398162 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40586655 | tacggcgtgagccac[C/T]gtgcccggcctctcc | 92799 |
rs400195 | snp | C/G | 0.0839998 | 0.186933 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40587270 | ttattgtctgccatc[C/G]ctgctagaatgtcag | 92799 |
rs403842 | snp | A/T | 0.0119091 | 0.0762411 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40585389 | ggaaatacagacttg[A/T]gtcactgtgcttggc | 92799 |
rs404584 | snp | A/G | 0.497668 | 0.0340657 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40585239 | aacctcctgaacagc[A/G]gaaccacaggcatgc | 92799 |
rs406133 | snp | C/G | 0.497121 | 0.0378299 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40585915 | gtctcaaaaaacaaa[C/G]aaaaaTGACATAATA | 92799 |
rs410101 | snp | A/G | 0.486464 | 0.0811471 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40584284 | GCCTTAATCACAAAG[A/G]TGGGAAAGAAACACA | 92799 |
rs413901 | snp | C/G | 0.487177 | 0.0790385 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40584354 | TTTACAGCAGATGAA[C/G]CTGAGTTCTCTTACT | 92799 |
rs415075 | snp | C/G | 0.492037 | 0.0625946 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40586548 | atttttgtattttta[C/G]tagagacagggtttc | 92799 |
rs418007 | snp | A/G | 0.34101 | 0.232846 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40581911 | aGTGAAGATTCCAGC[A/G]GGAATTAGAGAAGAT | 92799 |
rs420490 | snp | C/G | 0.499396 | 0.0173617 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40583867 | GGCAACAGAATGAGA[C/G]TCTGTCTCAGAAAAA | 92799 |
rs420720 | snp | C/G | 0.488302 | 0.0755777 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40589384 | CAGGTGTTGGTGGGA[C/G]TGACCTGGCGCAGTG | 92799 |
rs421739 | snp | C/T | 0.41408 | 0.188621 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40581853 | TAGAATTCCAGACCG[C/T]TTTAGAATCCCATAC | 92799 |
rs450819 | snp | A/G | 0.304188 | 0.244057 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40580108 | AGCAGCACTAAACTC[A/G]GTCTTCCTCTGTGCT | 92799 |
rs710160 | snp | A/G | 0.422473 | 0.180978 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40581585 | GTGCTGGAACTACAG[A/G]TGTGAGTTACTGTGC | 92799 |
rs814518 | snp | A/G | 0.425894 | 0.177655 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40578787 | TGGGAGTTGTAGTCC[A/G]GGTTTGGTTTCTTTG | 92799 |
rs814519 | snp | G/T | 0.426507 | 0.177046 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40578957 | TCTGATTGGTAGAAG[G/T]AACAGAGTAGGGAAA | 92799 |
rs843778 | snp | A/G | 0.496681 | 0.0405994 | intron-variant, upstream-variant-2KB | SPTBN4, SHKBP1 | GRCh38.p7 | 19:40574908 | tagtcccagacactc[A/G]ggagactgaggcaca | 92799 |
rs890935 | snp | C/G | 0.0609498 | 0.163585 | synonymous-codon, intron-variant | SHKBP1 | GRCh38.p7 | 19:40583484 | CTCCATTTACTACGT[C/G]GGTGAGCAGCAGCCT | 92799 |
rs1046422 | snp | A/C | 0 | 0 | upstream-variant-2KB, utr-variant-3-prime | LTBP4, SHKBP1 | GRCh38.p7 | 19:40591340 | TGTTACTAGGTCCCC[A/C]CCTTCCCTCTTTTCT | 92799 |
rs1185182 | snp | A/G | 0 | 0 | upstream-variant-2KB, intron-variant, downstream-variant-500B | LTBP4, SHKBP1 | GRCh38.p7 | 19:40591817 | ACATTCCTCCCCTGC[A/G]ACACCttttttgttt | 92799 |
rs2042937 | snp | A/C | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40585552 | ctgtctcaggaaaag[A/C]caaaaaaaaaaaaaa | 92799 |
rs2290682 | snp | C/T | 0.404948 | 0.196192 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40577538 | TACCCCATCCATCCT[C/T]TGCCCCCCTTTCCCG | 92799 |
rs3217684 | in-del | -/G | 0.405981 | 0.195372 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40578565 | TCCCAATGGAATGGA[-/G]GGGGCGCGGAGGTGG | 92799 |
rs7251057 | snp | C/T | 0.413748 | 0.188909 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40585550 | CTTTTTTTTTTTTTT[C/T]GTCTTTTCCTGAGAC | 92799 |
rs7253575 | snp | C/T | 0.0923359 | 0.194016 | upstream-variant-2KB, intron-variant, downstream-variant-500B | LTBP4, SHKBP1 | GRCh38.p7 | 19:40591869 | aggcatggctggatc[C/T]ggggcttcaaacact | 92799 |
rs7254675 | snp | A/T | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40579506 | atctctactaaaaat[A/T]aaaaaaaattagcca | 92799 |
rs7258549 | snp | C/G | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40579959 | aatcacttgaaccca[C/G]gaggcagaggttgca | 92799 |
rs7259267 | snp | A/G | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40588885 | CCAGGAGCCTGCAAC[A/G]ATTGGGGTGTCCTGA | 92799 |
rs7259585 | snp | A/G | 1.65485e-05 | 0.00287645 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40580719 | GGGCATGCGGTGAGG[A/G]TTGGTGATGTCCCCT | 92799 |
rs8106578 | snp | A/G | 0.0894459 | 0.191631 | intron-variant, upstream-variant-2KB | SHKBP1, LTBP4 | GRCh38.p7 | 19:40590919 | CATGGTGTTCCCGGG[A/G]ACAGAGTGGCCCAGC | 92799 |
rs10402698 | snp | G/T | 0.396182 | 0.202807 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40585951 | cgcttcgtcacctag[G/T]ctggagtgcagtggc | 92799 |
rs10408716 | snp | C/T | 0.00398564 | 0.0444627 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40585262 | aggcatgcatcacca[C/T]acctgtctaattttt | 92799 |
rs11458145 | in-del | -/A | | | intron-variant, upstream-variant-2KB | SPTBN4, SHKBP1 | GRCh38.p7 | 19:40575015 | CAAGACTCTGTCTCA[-/A]AAAAAAAAAAAAAAA | 92799 |
rs11555184 | snp | A/T | | | utr-variant-3-prime, upstream-variant-2KB | SPTBN4, SHKBP1 | GRCh38.p7 | 19:40576149 | GACGTTTTGCAAAAA[A/T]AAACTAAGTCAGGAA | 92799 |
rs11555272 | snp | C/G | 0.0739657 | 0.177516 | synonymous-codon, utr-variant-5-prime | SHKBP1 | GRCh38.p7 | 19:40580403 | AGCCCCTGTCCGACG[C/G]AGCAACACGATGCCC | 92799 |
rs11672651 | snp | C/T | 0.164009 | 0.234746 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40583368 | GAATGGAAGGGCTCC[C/T]GGCTGCAGCCTGTCC | 92799 |
rs11672711 | snp | C/T | 0 | 0 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40583554 | AGGGAGGGAGAGAGG[C/T]TGGGGCACTTGGAAC | 92799 |
rs11878674 | snp | C/T | 0.00267156 | 0.0364505 | synonymous-codon | SHKBP1 | GRCh38.p7 | 19:40590262 | GTGCTCCGTGCGCTC[C/T]GTGGACGGCTCACCC | 92799 |
rs11879546 | snp | A/G | 0.0663309 | 0.169604 | upstream-variant-2KB, intron-variant, downstream-variant-500B | LTBP4, SHKBP1 | GRCh38.p7 | 19:40591711 | gggaggatcgcttga[A/G]cctaggaggccaagg | 92799 |
rs12610540 | snp | G/T | 0.00755907 | 0.0610114 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40578699 | TGCTTGGAAAGGAAG[G/T]TGGACACAGCATTTC | 92799 |
rs12977500 | snp | A/G | 0.225597 | 0.248806 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40588859 | CTGATTCCCACTTGC[A/G]GCCACCTGACCCAGG | 92799 |
rs16974364 | in-del | -/C | 0.274393 | 0.248807 | downstream-variant-500B, upstream-variant-2KB | SPTBN4, SHKBP1 | GRCh38.p7 | 19:40576637 | GGGTCTAAACACACG[-/C]CCCTTGACGAGAACC | 92799 |
rs16974365 | snp | C/T | 0.445327 | 0.156036 | synonymous-codon, upstream-variant-2KB | SHKBP1 | GRCh38.p7 | 19:40576962 | TCCCGGGGAAGTCAT[C/T]CATCTGAATGTGGGA | 92799 |
rs17855499 | snp | A/T | 0 | 0 | missense | SHKBP1 | GRCh38.p7 | 19:40589109 | AGCGGGACGACCAGC[A/T]AGTGTTCATCCAGAA | 92799 |
rs28488028 | snp | A/T | 0.0402882 | 0.136092 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40587744 | TGTTTCTACAAAAAA[A/T]TTTTAAAAAATTAGC | 92799 |
rs28612694 | snp | A/G | 0.00400377 | 0.044563 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40580513 | CTCGTGGAAGGTTGG[A/G]GCAGCTGTGGGGTCC | 92799 |
rs34175472 | in-del | -/C | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40590872 | GCCACAACTCCACTG[-/C]CCCTTCTGTGCAATG | 92799 |
rs34903711 | in-del | -/T | 0.5 | 0 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40585535 | TTTTTTCTTTCTTTC[-/T]TTTTTTTTTTTTTTT | 92799 |
rs35620022 | in-del | -/A | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40580032 | GCGAAACTCCAACTC[-/A]AAAAAAAAAAAAAAA | 92799 |
rs35684786 | in-del | -/C | 0.488363 | 0.0753851 | intron-variant, upstream-variant-2KB | SHKBP1 | GRCh38.p7 | 19:40577088 | TCAAGGGTTGCTCCG[-/C]CCCCCCCCCCTTTGG | 92799 |
rs35788736 | in-del | -/C | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40580054 | AAAAAAAAAAAAAAA[-/C]CGGAAAATTAGGTAA | 92799 |
rs35971132 | snp | A/C/G | 0.0247097 | 0.108523 | synonymous-codon, upstream-variant-2KB | SHKBP1, LTBP4 | GRCh38.p7 | 19:40591123 | AGACCTCCGACGGCC[A/C/G]CCCACACCAGCCCCG | 92799 |
rs36076841 | snp | C/T | 0.00138299 | 0.0262599 | synonymous-codon | SHKBP1 | GRCh38.p7 | 19:40588694 | GATTTCCACCCAGCC[C/T]GGCTCCACCCCACTC | 92799 |
rs36087813 | in-del | -/C | 0.5 | 0 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40581537 | CAAAAAAAAAAAAAA[-/C]AACAAAAAAAGAAAT | 92799 |
rs45616834 | snp | A/G | 0.0271762 | 0.113356 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40588564 | CCTGAGGCTCTGGAC[A/G]GGCAGGCAGCATTGA | 92799 |
rs55658896 | snp | C/G | 0.147194 | 0.227884 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40586981 | CAGTGCTGGGAGAGA[C/G]AGCTCAGATGGGAGT | 92799 |
rs55736297 | snp | A/G | 0.114036 | 0.209795 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40588377 | GTCCAGGCAGGTGAC[A/G]AAATGGACCAGGACC | 92799 |
rs57291083 | in-del | -/TTTA | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40579123 | TTATTTATTTATTTA[-/TTTA]ATTTTATGAGACAGG | 92799 |
rs57544864 | in-del | -/C | 0.472803 | 0.113397 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40581532 | CATCTCAAAAAAAAA[-/C]AAAAAAACAAAAAAA | 92799 |
rs58051153 | in-del | -/TT | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40581938 | ACTTTTTTTTTTTTT[-/TT]GAAATGGAGTCATTC | 92799 |
rs58418484 | snp | C/T | 0.0111196 | 0.0737302 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40581021 | CATAAAATCCTCAAA[C/T]CCATAAGAATTCTCT | 92799 |
rs58633563 | snp | A/G | 0.277867 | 0.248442 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40581373 | CAAAAAAATTAGCTG[A/G]GTGTGGTGGCACGTG | 92799 |
rs58880858 | in-del | -/AC | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40577992 | CACACACACACACAC[-/AC]TCAACATTTCCTCCA | 92799 |
rs60047582 | in-del | -/C/CC | 0 | 0 | intron-variant, upstream-variant-2KB | SHKBP1 | GRCh38.p7 | 19:40577098 | TCCGCCCCCCCCCCC[-/C/CC]TTTGGAGGCGCGAGA | 92799 |
rs60115762 | snp | A/G | 0.0383715 | 0.133092 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40590005 | GCTGGGACGGGCCTC[A/G]GGTCTTCCCTGCAGT | 92799 |
rs61373446 | in-del | -/ACAC | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40577949 | CTTCGATTTCTCCCT[-/ACAC]ACACACACACACACA | 92799 |
rs61457016 | snp | G/T | 0.114036 | 0.209795 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40579494 | CAGCAAGACCTCATC[G/T]CTACTAAAAATAAAA | 92799 |
rs62107872 | snp | A/T | 0.121563 | 0.214485 | intron-variant, upstream-variant-2KB | SPTBN4, SHKBP1 | GRCh38.p7 | 19:40575389 | TCCAAATACGGCCTC[A/T]GTGCCCTGTTTCTTC | 92799 |
rs62107874 | snp | A/G | 0.279195 | 0.248289 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40583176 | TTAAAACTTTAAAAA[A/G]TACAGAGTCCAGGAG | 92799 |
rs62107875 | snp | C/T | 0.00517822 | 0.0506191 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40583289 | GGGGCTGGGGAGCAG[C/T]GGGTGGGTTCTGGAG | 92799 |
rs62107905 | snp | C/T | 0.5 | 0 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40585554 | TTTTTTTTTTTTGTC[C/T]TTTCCTGAGACAGAG | 92799 |
rs62107906 | snp | C/T | 0.5 | 0 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40588854 | CTCCGCTGATTCCCA[C/T]TTGCGGCCACCTGAC | 92799 |
rs67613859 | in-del | -/AC | 0.499987 | 0.00259581 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40577949 | CACACACACACACAC[-/AC]TCAACATTTCCTCCA | 92799 |
rs71173658 | in-del | -/A | 0 | 0 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40580054 | AAAAAAAAAAAAAAA[-/A]CGGAAAATTAGGTAA | 92799 |
rs71173659 | in-del | -/T | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40585536 | TTTTTCTTTCTTTCT[-/T]TTTTTTTTTTTTTTG | 92799 |
rs71334920 | in-del | -/G | 0.5 | 0 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40582775 | CAAGAACTGGCTTGG[-/G]CTCGGTGGCTCACAC | 92799 |
rs71358921 | snp | G/T | 0.5 | 0 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40583100 | GATGGCTTGAGCCCA[G/T]GAGTTTGACGCCAGC | 92799 |
rs73051877 | snp | A/C | 0.0405006 | 0.136419 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40582495 | CCAGCCTGGCTGCCC[A/C]CTTCCCAGTTTTCCA | 92799 |
rs73051879 | snp | A/T | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40583154 | TCTCTACAAAAAATT[A/T]AAAAAATTAAAACTT | 92799 |
rs73051885 | snp | A/T | 0.106633 | 0.204807 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40585114 | GGATTATTCTTTTTT[A/T]AAAAAAAATAGAGAC | 92799 |
rs74396912 | snp | C/T | 0.0240643 | 0.107019 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40584605 | TCACTTCTGATACCC[C/T]CTAGAAATCACTAAT | 92799 |
rs74480722 | snp | C/T | 0.00557542 | 0.0525036 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40581909 | TTATCTTCTCTAATT[C/T]CTGCTGGAATCTTCA | 92799 |
rs74787883 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40581533 | CATCTCAAAAAAAAA[A/C]AAAAAACAAAAAAAG | 92799 |
rs74817505 | snp | A/G | 0.0130921 | 0.0798413 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40579294 | GCTAATTAAAAAAAT[A/G]ATAATCATTTTAAAT | 92799 |
rs75551227 | snp | C/T | 0.00953873 | 0.0683987 | upstream-variant-2KB, utr-variant-3-prime | LTBP4, SHKBP1 | GRCh38.p7 | 19:40591318 | CCTCCTTGGAATAAA[C/T]GGTTATTGTTACTAG | 92799 |
rs75847377 | snp | C/T | 0.0111196 | 0.0737302 | utr-variant-3-prime, upstream-variant-2KB | SPTBN4, SHKBP1 | GRCh38.p7 | 19:40575792 | TCCCACTCACCACCC[C/T]CACCCCAGGTGCTGG | 92799 |
rs76000727 | snp | A/G | 0.0592355 | 0.161582 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40589394 | TGGGACTGACCTGGC[A/G]CAGTGCCAGCCCAGT | 92799 |
rs76171390 | snp | A/G | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40584653 | TTGAGACAAGGTCTC[A/G]CTCTGCTGCCCAGGC | 92799 |
rs76197975 | snp | A/C | | | intron-variant | SHKBP1 | GRCh38.p7 | 19:40581026 | AATCCTCAAACCCAT[A/C]AGAATTCTCTGCTCT | 92799 |
rs76731142 | snp | G/T | 0.5 | 0 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40586385 | TCTTTTTTTTTTTTT[G/T]AGACAGAGTCACATT | 92799 |
rs76923492 | snp | C/T | 0.0501905 | 0.150254 | intron-variant | SHKBP1 | GRCh38.p7 | 19:40586700 | TGTCTCTGTTCTGTG[C/T]CTGTTTCTTTCTCCC | 92799 |
rs77082984 | snp | C/G | 0.00229091 | 0.0337669 | synonymous-codon | SHKBP1 | GRCh38.p7 | 19:40580418 | GAGCAACACGATGCC[C/G]CCCAACCTTGGCAAT | 92799 |