SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs7833 | snp | C/T | 0.378765 | 0.214288 | intron-variant, downstream-variant-500B, utr-variant-3-prime | COPB2, MRPS22 | GRCh38.p7 | 3:139357096 | ATGTTAAAAAATGGC[C/T]AGATTAAAAGATATC | 9276 |
rs1586862 | snp | C/T | 0.378568 | 0.214407 | intron-variant | COPB2 | GRCh38.p7 | 3:139383599 | TTCTTCATTTACACA[C/T]CAAAAAAATCAGAAT | 9276 |
rs1602626 | snp | C/T | 0.118235 | 0.212457 | intron-variant | COPB2 | GRCh38.p7 | 3:139364928 | TCTCTTCCCCCTATA[C/T]GGTATGCTTCCTTCA | 9276 |
rs1609482 | snp | G/T | 0.379354 | 0.213933 | intron-variant, upstream-variant-2KB | COPB2, LOC100507291 | GRCh38.p7 | 3:139388501 | CCTAACTTTTTCCTA[G/T]TTCCAACTTTGCCAC | 9276 |
rs1609483 | snp | A/G | 0.3748 | 0.216622 | upstream-variant-2KB, intron-variant | COPB2, LOC100507291 | GRCh38.p7 | 3:139390482 | cggtggctcacgcct[A/G]taatcccagcacttt | 9276 |
rs1844977 | snp | C/T | 0.140242 | 0.224618 | intron-variant | COPB2 | GRCh38.p7 | 3:139358573 | ATTACCCCAGCTACT[C/T]GGGAGGCTGAGGCAG | 9276 |
rs2307031 | snp | G/T | 0.195115 | 0.243901 | intron-variant | COPB2 | GRCh38.p7 | 3:139357978 | AGACAAAAGGAAGAG[G/T]GTAATTAAGTTTTAC | 9276 |
rs3215032 | in-del | -/TG | 0.385168 | 0.210309 | intron-variant, upstream-variant-2KB | COPB2, LOC100507291 | GRCh38.p7 | 3:139389408 | TTCCTGGAATCAAAC[-/TG]GACCAAGACCCCGCA | 9276 |
rs3888890 | snp | A/G | 0.379158 | 0.214052 | intron-variant, upstream-variant-2KB | COPB2, LOC100507291 | GRCh38.p7 | 3:139388288 | GATAGTGCTAGCTTC[A/G]GCAGCACATAGAGAG | 9276 |
rs6766875 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | COPB2 | GRCh38.p7 | 3:139378561 | TTTGCCCTCACAAGA[C/T]TGGTTTTTAAAAAGT | 9276 |
rs6770021 | snp | A/C | 0.00597247 | 0.0543191 | intron-variant | COPB2 | GRCh38.p7 | 3:139386164 | CAACCTTTACCTCTT[A/C]CTTTAAAAGATCAGA | 9276 |
rs6773840 | snp | A/T | 0.230603 | 0.249246 | intron-variant | COPB2 | GRCh38.p7 | 3:139376751 | TTTAATTAATTAATT[A/T]ATTTATTTATTTATT | 9276 |
rs6781318 | snp | A/G | 0.241627 | 0.24986 | intron-variant | COPB2 | GRCh38.p7 | 3:139382619 | AAATTCCTCAAATGC[A/G]AATTTTACCTGGATT | 9276 |
rs6793543 | snp | A/C | 0.0988009 | 0.199095 | intron-variant | COPB2 | GRCh38.p7 | 3:139363525 | tccctggtgccaaaa[A/C]ggttggggaccactg | 9276 |
rs7372124 | snp | C/T | 0.379354 | 0.213933 | intron-variant | COPB2 | GRCh38.p7 | 3:139378487 | AAAGAGTAATATAAG[C/T]TTGACTAGATCTAAG | 9276 |
rs7372667 | snp | A/C | 0.212728 | 0.247206 | intron-variant | COPB2 | GRCh38.p7 | 3:139377436 | AAAGAGAAGTGCAGG[A/C]AGATGGAACAGTTCA | 9276 |
rs7372811 | snp | A/G | 0.37955 | 0.213815 | intron-variant | COPB2 | GRCh38.p7 | 3:139360178 | TCAAAGTTATATGGC[A/G]AAGTATGGGATTGTA | 9276 |
rs7373116 | snp | A/G | 0.379354 | 0.213933 | intron-variant | COPB2 | GRCh38.p7 | 3:139371894 | CATGTAGAAGTTAAG[A/G]AACAATAATTCATGT | 9276 |
rs7373142 | snp | C/T | 0.38555 | 0.210062 | intron-variant | COPB2 | GRCh38.p7 | 3:139363399 | GATGGATCTAGGTTC[C/T]GTGCTCTTTATGAGA | 9276 |
rs7373302 | snp | A/C | 0.27585 | 0.24866 | intron-variant | COPB2 | GRCh38.p7 | 3:139383278 | ATTTTATTTCTAATA[A/C]AGTCCTGAAAAATTC | 9276 |
rs7373657 | snp | C/T | 0.37955 | 0.213815 | intron-variant | COPB2 | GRCh38.p7 | 3:139368789 | TCTAGAACCAGACCC[C/T]AGAAAAGCTGGTTTG | 9276 |
rs7374317 | snp | C/T | 0.37955 | 0.213815 | intron-variant | COPB2 | GRCh38.p7 | 3:139367845 | TACCATTTGGGAGCT[C/T]ATTTAAATCACTGAC | 9276 |
rs7374348 | snp | G/T | 0.369958 | 0.21934 | intron-variant | COPB2 | GRCh38.p7 | 3:139377211 | TCCAGTATTTCAGGG[G/T]ATAAAGATTTCCAAA | 9276 |
rs7374710 | snp | A/C | 0 | 0 | missense, nc-transcript-variant | COPB2 | GRCh38.p7 | 3:139361111 | TAGCTCATGAATGCC[A/C]CATTATTTTTGCCAT | 9276 |
rs7375091 | snp | A/T | 0.433527 | 0.169758 | intron-variant | COPB2 | GRCh38.p7 | 3:139371547 | GAACAAAGAAAGCAC[A/T]AAGACGGCTCATGCT | 9276 |
rs7428303 | snp | A/G | | | synonymous-codon, nc-transcript-variant | COPB2 | GRCh38.p7 | 3:139359322 | AGGCAGCTTCTGGCA[A/G]CCGTCCAGTTCTAAT | 9276 |
rs7616756 | snp | A/G | 0.0142736 | 0.0832652 | intron-variant | COPB2 | GRCh38.p7 | 3:139358132 | ACCACAGAGGCCTAC[A/G]TATCCTCCAGATATT | 9276 |
rs7636369 | snp | C/T | 0.212728 | 0.247206 | intron-variant | COPB2 | GRCh38.p7 | 3:139374803 | TAAATGTAACTATCA[C/T]ATTTAAAGAAGGGGA | 9276 |
rs7649535 | snp | A/G | 0.1778 | 0.239348 | intron-variant | COPB2 | GRCh38.p7 | 3:139379353 | CAATTCAGAAAATGG[A/G]AATAGAGATTCATAT | 9276 |
rs9289574 | snp | A/G | 0.37955 | 0.213815 | intron-variant | COPB2 | GRCh38.p7 | 3:139368393 | TTCTTATATCAAGAT[A/G]ATAAGTATTCACTTA | 9276 |
rs9819368 | snp | A/G | 0.380529 | 0.213219 | intron-variant | COPB2 | GRCh38.p7 | 3:139359768 | CCAGCAGAATACCAT[A/G]GTGTCTTATTTTTTC | 9276 |
rs9821891 | snp | A/G | 0.379354 | 0.213933 | intron-variant | COPB2 | GRCh38.p7 | 3:139372480 | AACTTACAGCCAAGA[A/G]TGTTTTACGATATTA | 9276 |
rs9831108 | snp | A/C | 0.443192 | 0.158673 | intron-variant | COPB2 | GRCh38.p7 | 3:139379515 | TATAAGAAAATAACC[A/C]CAAAATCTACTCTGT | 9276 |
rs9849578 | snp | C/T | 0.480697 | 0.0963277 | intron-variant | COPB2 | GRCh38.p7 | 3:139370760 | CTTGGCTGGATAGAG[C/T]TGAAAAAAAGGACTA | 9276 |
rs9850987 | snp | C/G | 0.379354 | 0.213933 | intron-variant | COPB2 | GRCh38.p7 | 3:139386047 | TCCTGAGACAAAACA[C/G]CTCACAATGCTTTTA | 9276 |
rs9851318 | snp | A/C | 0.379746 | 0.213696 | intron-variant | COPB2 | GRCh38.p7 | 3:139365889 | catttgagtagtgat[A/C]aatcaaaattagaac | 9276 |
rs9853350 | snp | C/T | 0.479984 | 0.0980171 | intron-variant | COPB2 | GRCh38.p7 | 3:139376780 | TTTGAGATGGAGTCT[C/T]GCTCTGTCCCCCAAG | 9276 |
rs9857390 | snp | C/T | 0.379158 | 0.214052 | intron-variant | COPB2 | GRCh38.p7 | 3:139387715 | CACAAGACTAGAAAG[C/T]CATGATGGATTTAAA | 9276 |
rs9859864 | snp | G/T | 0.432944 | 0.170387 | intron-variant | COPB2 | GRCh38.p7 | 3:139372377 | TGCTGCAGAGTCAAC[G/T]AAAATTTTCCCAATG | 9276 |
rs9860201 | snp | C/G | 0.479984 | 0.0980171 | intron-variant | COPB2 | GRCh38.p7 | 3:139372602 | TGGTTTATATCTTTT[C/G]TCTTTTTCAATACTC | 9276 |
rs9864740 | snp | A/G | 0.212425 | 0.24716 | intron-variant | COPB2 | GRCh38.p7 | 3:139366114 | ACCTCTAGGGAGTAG[A/G]AAGCAAAAAGGAGGG | 9276 |
rs9868900 | snp | A/T | 0.37955 | 0.213815 | intron-variant | COPB2 | GRCh38.p7 | 3:139370409 | GCAATTTAAAACTTA[A/T]GAGTTGTTTATTTCT | 9276 |
rs9869745 | snp | C/T | 0.369958 | 0.21934 | intron-variant | COPB2 | GRCh38.p7 | 3:139370942 | TAAATCTTACTGTTG[C/T]AACATTTTAAAAAAT | 9276 |
rs9871030 | snp | C/T | 0.379354 | 0.213933 | intron-variant | COPB2 | GRCh38.p7 | 3:139386139 | CCCACGCCTCCTTCA[C/T]TTTCAGCAACAACCT | 9276 |
rs9871593 | snp | A/T | | | intron-variant | COPB2 | GRCh38.p7 | 3:139386492 | cctctcctgaccttg[A/T]gatccacccacctcg | 9276 |
rs9879594 | snp | A/G | 0.379354 | 0.213933 | intron-variant | COPB2 | GRCh38.p7 | 3:139381388 | ATAGGAGTGGTAAAT[A/G]CTGTTGGTGATATAA | 9276 |
rs10665711 | in-del | -/AA/AAA | | | intron-variant | COPB2 | GRCh38.p7 | 3:139360206 | AAGTATGGGATTGTA[-/AA/AAA]AAAAAAAAAAAAAAT | 9276 |
rs10935322 | snp | A/T | 0.379354 | 0.213933 | intron-variant | COPB2 | GRCh38.p7 | 3:139379709 | AGATGGTATTCCAGA[A/T]CCTCTGTGCTCCAGC | 9276 |
rs10935323 | snp | G/T | 0.46974 | 0.119223 | upstream-variant-2KB, intron-variant | COPB2, LOC100507291 | GRCh38.p7 | 3:139391293 | TGATCTTATGTAAAT[G/T]GAGACTAATAATTCT | 9276 |
rs11283833 | in-del | -/G | 0.4231 | 0.180378 | intron-variant, upstream-variant-2KB | COPB2, LOC100507291 | GRCh38.p7 | 3:139388405 | AGGTCCATGGATTGT[-/G]GGGGGGGGGTGTCTG | 9276 |
rs11403500 | in-del | -/T | 0.379746 | 0.213696 | intron-variant | COPB2 | GRCh38.p7 | 3:139377071 | TTTAAATATTATGAT[-/T]AAAAAAAAGAAGCAT | 9276 |
rs11403501 | in-del | -/A | | | intron-variant | COPB2 | GRCh38.p7 | 3:139377255 | ATTCAATCTGAGAAA[-/A]GGCTGAAACAGAGGC | 9276 |
rs11439096 | in-del | -/A | | | intron-variant | COPB2 | GRCh38.p7 | 3:139360536 | TGAGATTCCATCTCA[-/A]AAAAAAAAAAAAAAA | 9276 |
rs11545277 | snp | A/T | | | missense, nc-transcript-variant | COPB2 | GRCh38.p7 | 3:139369276 | CATACGAAGAATTGA[A/T]ATTCAGCCCAAACAT | 9276 |
rs11545278 | snp | A/T | | | utr-variant-3-prime, nc-transcript-variant | COPB2 | GRCh38.p7 | 3:139357658 | GCCCATGTCTGTTTT[A/T]GTTAACAAGGAAAAC | 9276 |
rs11706576 | snp | A/T | 0.375 | 0.216506 | upstream-variant-2KB, nc-transcript-variant | COPB2, LOC100507291 | GRCh38.p7 | 3:139389874 | ACCCCGACCAGAAGA[A/T]AGAGATTGAAACGAT | 9276 |
rs11717119 | snp | C/T | 0.37955 | 0.213815 | intron-variant | COPB2 | GRCh38.p7 | 3:139369639 | ATATTTTTCAGTAAT[C/T]ATGCAAAAATATAAA | 9276 |
rs11920890 | snp | A/G | 0.375399 | 0.216275 | upstream-variant-2KB, intron-variant | COPB2, LOC100507291 | GRCh38.p7 | 3:139391644 | ATGTTTTCCACTGCA[A/G]TTAGCCAAAATTAAG | 9276 |
rs11928018 | snp | A/G | 0.237303 | 0.249677 | intron-variant | COPB2 | GRCh38.p7 | 3:139368394 | TCTTATATCAAGATG[A/G]TAAGTATTCACTTAA | 9276 |
rs12636981 | snp | C/T | | | intron-variant | COPB2 | GRCh38.p7 | 3:139364314 | cccacctcccctctc[C/T]cacctcccctctccc | 9276 |
rs13060697 | snp | A/G | 0.479984 | 0.0980171 | intron-variant | COPB2 | GRCh38.p7 | 3:139382935 | ATTGGGCATCTGGGA[A/G]AAAAATAAATTTAAC | 9276 |
rs13070932 | snp | A/T | | | intron-variant | COPB2 | GRCh38.p7 | 3:139377073 | TTTAAATATTATGAT[A/T]AAAAAAAGAAGCATG | 9276 |
rs13089007 | snp | C/T | 0.47023 | 0.118317 | intron-variant | COPB2 | GRCh38.p7 | 3:139376745 | AAATATTTTAATTAA[C/T]TAATTAATTTATTTA | 9276 |
rs13326837 | snp | A/G | 0.37955 | 0.213815 | intron-variant | COPB2 | GRCh38.p7 | 3:139363938 | TGGAAGATCTCTGGA[A/G]CTAGTCAGATACAGC | 9276 |
rs13327001 | snp | C/T | 0.37955 | 0.213815 | intron-variant | COPB2 | GRCh38.p7 | 3:139381287 | TCAAAGAATATATAG[C/T]ATCTCCTTATTTGAA | 9276 |
rs13327467 | snp | C/T | 0.379158 | 0.214052 | intron-variant, upstream-variant-2KB | COPB2, LOC100507291 | GRCh38.p7 | 3:139388297 | AGCTTCGGCAGCACA[C/T]AGAGAGGAGATTAGC | 9276 |
rs13434189 | snp | A/C | 0.379354 | 0.213933 | intron-variant | COPB2 | GRCh38.p7 | 3:139378641 | ACTAATTCAGTGCTA[A/C]CTCTTTTTCCAGTCC | 9276 |
rs17395255 | snp | C/T | 0.379354 | 0.213933 | intron-variant | COPB2 | GRCh38.p7 | 3:139380777 | TAGGCACTTCAACTC[C/T]AACCTGTAGAATCAC | 9276 |
rs17395262 | snp | C/G | 0.379354 | 0.213933 | intron-variant | COPB2 | GRCh38.p7 | 3:139380830 | AACTGAGAGTAGACA[C/G]AACATGCGATCTATA | 9276 |
rs17395304 | snp | A/G | 0.379354 | 0.213933 | intron-variant | COPB2 | GRCh38.p7 | 3:139381025 | ATACAAATACTCAAC[A/G]TAGATTAGGAAAGTA | 9276 |
rs28498442 | snp | C/G | | | intron-variant | COPB2 | GRCh38.p7 | 3:139370271 | TGAACCCTATATACA[C/G]TATGTTTTTTCCTAT | 9276 |
rs34066096 | in-del | -/A | | | intron-variant | COPB2 | GRCh38.p7 | 3:139367559 | CCCAAAGTGCTGGGA[-/A]TTATAGGTGTGAGCC | 9276 |
rs34083823 | in-del | -/G | | | intron-variant | COPB2 | GRCh38.p7 | 3:139365996 | CTTCTACAGAGGGGG[-/G]AAGTCACAAGAAATG | 9276 |
rs34184879 | snp | C/T | | | intron-variant | COPB2 | GRCh38.p7 | 3:139365219 | GATTCCTACCAAGGC[C/T]TACCATGATTATAAC | 9276 |
rs34228084 | snp | A/G | 0.379158 | 0.214052 | intron-variant | COPB2 | GRCh38.p7 | 3:139377252 | AATAATTCAATCTGA[A/G]AAAGGCTGAAACAGA | 9276 |
rs34321937 | in-del | -/C | | | intron-variant | COPB2 | GRCh38.p7 | 3:139363863 | GCATTCTAAATAACC[-/C]GGAGTTACTTTTTTT | 9276 |
rs34345933 | in-del | -/TG | | | intron-variant, upstream-variant-2KB | COPB2, LOC100507291 | GRCh38.p7 | 3:139389409 | TCCTGGAATCAAACG[-/TG]ACCAAGACCCCGCAA | 9276 |
rs34679035 | in-del | -/A | | | intron-variant | COPB2 | GRCh38.p7 | 3:139360193 | GAAGTATGGGATTGT[-/A]AAAAAAAAAAAAAAT | 9276 |
rs34944211 | in-del | -/A | | | intron-variant | COPB2 | GRCh38.p7 | 3:139362651 | CTCTCAAACTAGAAA[-/A]CCCCACTATTTAATA | 9276 |
rs34965405 | in-del | -/T | | | intron-variant | COPB2 | GRCh38.p7 | 3:139374227 | AAAGCACATGCTTTT[-/T]CAGTTTCTCTTTAGG | 9276 |
rs34994114 | snp | A/T | 0.0788843 | 0.182262 | intron-variant | COPB2 | GRCh38.p7 | 3:139376747 | ATATTTTAATTAATT[A/T]ATTAATTTATTTATT | 9276 |
rs34994462 | in-del | -/T | 0.241053 | 0.24984 | intron-variant, upstream-variant-2KB | COPB2, LOC100507291 | GRCh38.p7 | 3:139388797 | CGCCCGGCTAATTTC[-/T]TTTTTTTTTTTTTGC | 9276 |
rs35109875 | in-del | -/T | | | intron-variant, upstream-variant-2KB | COPB2, LOC100507291 | GRCh38.p7 | 3:139388645 | TTTTTTTTTTTTTTT[-/T]GAGACGGAGTCTTGC | 9276 |
rs35182873 | in-del | -/C | | | intron-variant | COPB2 | GRCh38.p7 | 3:139378614 | ATTTAAAAACATTTC[-/C]AAAGAGCTATTACTA | 9276 |
rs35189055 | in-del | -/G | | | intron-variant, upstream-variant-2KB | COPB2, LOC100507291 | GRCh38.p7 | 3:139388241 | AGGTCTTGTTCAGGG[-/G]ACTGTAACCTGGGTG | 9276 |
rs35306402 | in-del | -/A | | | intron-variant | COPB2 | GRCh38.p7 | 3:139362112 | TTTCCAGACTAGTTT[-/A]CATACTATTTTACAT | 9276 |
rs35707619 | in-del | -/T | | | frameshift-variant, nc-transcript-variant | COPB2 | GRCh38.p7 | 3:139362440 | TGGTATGCAATTTTT[-/T]AACTCTCCAAGCTGA | 9276 |
rs35759116 | in-del | -/G | | | intron-variant | COPB2 | GRCh38.p7 | 3:139375791 | CTTGAATTTTCAGGG[-/G]AGCAAAATCACTATG | 9276 |
rs35778951 | in-del | -/G | | | intron-variant | COPB2 | GRCh38.p7 | 3:139364627 | CTACATGTCAGCAGG[-/G]AACAGTGCCTAGCAC | 9276 |
rs35907104 | in-del | -/C | | | intron-variant | COPB2 | GRCh38.p7 | 3:139362373 | CCTACTGACTTTTCC[-/C]ATCAGTTATGAAAAA | 9276 |
rs35952090 | snp | A/C | | | upstream-variant-2KB, intron-variant | COPB2, LOC100507291 | GRCh38.p7 | 3:139390928 | TAAGAAAACATGTGG[A/C]CCATAGAAAACTTGC | 9276 |
rs35959252 | snp | A/G | | | intron-variant | COPB2 | GRCh38.p7 | 3:139361595 | TCACTGGAGTTTTAA[A/G]GCAATTAGACTGCAA | 9276 |
rs35986405 | in-del | -/G | | | intron-variant | COPB2 | GRCh38.p7 | 3:139384253 | ACCATTAAGCATTGG[-/G]TCGTTTGGAAAATGC | 9276 |
rs36102615 | in-del | -/T | 0.0994016 | 0.19955 | intron-variant | COPB2 | GRCh38.p7 | 3:139366250 | TTAATCATTTTTTTT[-/T]AAAAAGCAGATGGGA | 9276 |
rs56063722 | in-del | -/AT | 0.470327 | 0.118136 | intron-variant | COPB2 | GRCh38.p7 | 3:139383826 | AAATAAATCCAGTAC[-/AT]GTTAATTAAAATAAC | 9276 |
rs56396174 | snp | C/G | 0.0722614 | 0.17581 | intron-variant | COPB2 | GRCh38.p7 | 3:139380961 | CAACGCCATGTTAGG[C/G]GCTATGACTGATGCA | 9276 |
rs56993164 | snp | A/G | 0.118584 | 0.212673 | intron-variant, upstream-variant-2KB | COPB2, LOC100507291 | GRCh38.p7 | 3:139388391 | TTAAAAAAAAAAAGA[A/G]GGTCCATGGATTGTG | 9276 |
rs57549985 | in-del | -/TA | 0.454182 | 0.144256 | intron-variant | COPB2 | GRCh38.p7 | 3:139362575 | AATGTATGTATGTTT[-/TA]TATATATATATATAC | 9276 |
rs57858012 | snp | A/T | | | intron-variant | COPB2 | GRCh38.p7 | 3:139382172 | AAATCTCATGTCAAA[A/T]TGGAGGAGGACCCTG | 9276 |
rs57909216 | snp | C/T | 0.5 | 0 | intron-variant | COPB2 | GRCh38.p7 | 3:139383825 | AAAATAAATCCAGTA[C/T]ATGTTAATTAAAATA | 9276 |