SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs700 | snp | A/C | 0.393162 | 0.204951 | utr-variant-3-prime, upstream-variant-2KB | BTK, TIMM8A | GRCh38.p7 | X:101349769 | CTCCCACTCAATACA[A/C]AAAGGCCCCTCTCTA | 695 |
rs1057388 | snp | A/G | | | utr-variant-3-prime, upstream-variant-2KB | BTK, TIMM8A | GRCh38.p7 | X:101349745 | CTCTCTACATCTGGG[A/G]ATGCACCTCTTCTTT | 695 |
rs1057403 | snp | A/G | 0.496156 | 0.0436722 | utr-variant-3-prime, upstream-variant-2KB | BTK, TIMM8A | GRCh38.p7 | X:101349693 | CTGAGCAAAGGCCAA[A/G]AAATTATTGTGCCTG | 695 |
rs1057413 | snp | A/G | | | utr-variant-3-prime, upstream-variant-2KB | BTK, TIMM8A | GRCh38.p7 | X:101349562 | AGTAGGCATTTGGTA[A/G]AGCTTGGGGGTGTGT | 695 |
rs1108401 | snp | A/C | 0.00633741 | 0.0559334 | intron-variant | BTK | GRCh38.p7 | X:101356478 | CAATTGAAAAAGAAA[A/C]AAGTCCAGGAATGAA | 695 |
rs1122765 | snp | A/C | 0.00633741 | 0.0559334 | utr-variant-3-prime, upstream-variant-2KB | BTK, TIMM8A | GRCh38.p7 | X:101349664 | CAGTCTGTCTTAATT[A/C]TCTCGGGAAATTTCA | 695 |
rs1135363 | snp | C/T | 0.435771 | 0.167299 | synonymous-codon | BTK | GRCh38.p7 | X:101353203 | CATCATGTACAGTTG[C/T]TGGCATGAGGTAAGT | 695 |
rs1883787 | snp | A/G | 0.0550819 | 0.156547 | intron-variant | BTK | GRCh38.p7 | X:101383217 | AACATCtatgtatgt[A/G]tgtatgcatgtatgt | 695 |
rs2071222 | snp | A/G | 0.327237 | 0.23777 | intron-variant | BTK | GRCh38.p7 | X:101362384 | GGTAATCTGCTCTCC[A/G]AGCTATGTGACCTGG | 695 |
rs2071223 | snp | C/T | 0.334326 | 0.235349 | intron-variant | BTK | GRCh38.p7 | X:101354559 | CATGGGTAGGTGTTA[C/T]AGTTTTAATCCTCTC | 695 |
rs2071229 | snp | C/T | 0.273816 | 0.248863 | upstream-variant-2KB, intron-variant | BTK | GRCh38.p7 | X:101386586 | GACTCGAAAAACGCT[C/T]TTCCTGGCCAGTCTC | 695 |
rs2143597 | snp | A/G | 0.0748481 | 0.178387 | intron-variant, upstream-variant-2KB | RPL36A, RPL36A-HNRNPH2, BTK | GRCh38.p7 | X:101391288 | CCCTCTTTGGGGCTC[A/G]ACGGAGGGAGGAAGC | 695 |
rs2238982 | snp | C/T | 0.0131573 | 0.0800346 | intron-variant | BTK | GRCh38.p7 | X:101385814 | TGTGACATGAGGTGA[C/T]CATCCGAACAGGTAG | 695 |
rs2238983 | snp | A/G | 0.194455 | 0.243752 | intron-variant | BTK | GRCh38.p7 | X:101384899 | TATGACATTTAGAAT[A/G]AAAGTGATTGGTGAC | 695 |
rs2238984 | snp | C/T | 0.479035 | 0.100215 | intron-variant | BTK | GRCh38.p7 | X:101384813 | AGTTATTTGATAAAA[C/T]AATGTCACTTTCCAA | 695 |
rs2238985 | snp | G/T | 0.3716 | 0.218434 | intron-variant | BTK | GRCh38.p7 | X:101376985 | TTCCAGAACACCCCT[G/T]GTGTTCCTTTGACGT | 695 |
rs2238986 | snp | C/T | 0.2875 | 0.247172 | intron-variant | BTK | GRCh38.p7 | X:101376675 | GGCTGGTGGTTTTTT[C/T]GTTACTTACTTAGTG | 695 |
rs2238987 | snp | A/G | 0.402499 | 0.198101 | intron-variant | BTK | GRCh38.p7 | X:101368084 | caaaggccctcggtt[A/G]gtaaatggcagggtc | 695 |
rs2238988 | snp | A/G | 0.186955 | 0.24192 | intron-variant | BTK | GRCh38.p7 | X:101364973 | GCGGGTGAATCACGA[A/G]GTCAGAAGTTCGAGA | 695 |
rs2238989 | snp | A/G | 0.186955 | 0.24192 | intron-variant | BTK | GRCh38.p7 | X:101364866 | TAGTCCCAGCTACTC[A/G]GGAGGCTGAGGCAGA | 695 |
rs2239460 | snp | C/G | 0.170393 | 0.236987 | intron-variant | BTK | GRCh38.p7 | X:101384230 | AATTTTAAATTATCA[C/G]TATGATTTGCTATTT | 695 |
rs2239461 | snp | A/G | 0.492017 | 0.0626724 | intron-variant | BTK | GRCh38.p7 | X:101377649 | TTGTTCTAAAACAGA[A/G]AAAGAGTAGAGGCAG | 695 |
rs2239462 | snp | A/G | 0.406436 | 0.195007 | intron-variant | BTK | GRCh38.p7 | X:101377437 | CCATTTACTGGTCAC[A/G]GTACTCAATTTATTT | 695 |
rs2301175 | snp | A/G | 0.287845 | 0.247119 | intron-variant | BTK | GRCh38.p7 | X:101370305 | CAGGAGGACCTAAGA[A/G]TATGAAAAATTCTAA | 695 |
rs2746108 | snp | C/G | | | intron-variant | BTK | GRCh38.p7 | X:101359482 | AGCATCTGTCATGTG[C/G]ATAGCACACTGTATC | 695 |
rs2746109 | snp | A/G | | | intron-variant | BTK | GRCh38.p7 | X:101359639 | ATTAGGGAGGAAAGG[A/G]CAACAGTAGCAGTTT | 695 |
rs2746110 | snp | G/T | 0.441847 | 0.160296 | intron-variant | BTK | GRCh38.p7 | X:101360035 | AAATATATATATATA[G/T]AGAGAGAGAGAGTTC | 695 |
rs2855259 | snp | A/G | 0.276658 | 0.248575 | intron-variant | BTK | GRCh38.p7 | X:101360490 | TGCGGCATAATTCCC[A/G]TGATCAGCATCCTCA | 695 |
rs2855260 | snp | A/C | | | intron-variant | BTK | GRCh38.p7 | X:101359479 | TACGTGTGCTATCCA[A/C]ATGACAGATGCTCAG | 695 |
rs2855261 | snp | C/T | | | intron-variant | BTK | GRCh38.p7 | X:101359361 | GCCACTCAAGCAGCA[C/T]TCTCCCTTCACAGGT | 695 |
rs3027594 | snp | G/T | 0.0495675 | 0.149422 | utr-variant-3-prime, intron-variant, upstream-variant-2KB | RPL36A, RPL36A-HNRNPH2, BTK | GRCh38.p7 | X:101392571 | AGGCCAAAACCTAGT[G/T]AGAACCTCTGTCTTC | 695 |
rs3027595 | snp | A/G | 0.00883966 | 0.0658915 | synonymous-codon, upstream-variant-2KB | RPL36A, RPL36A-HNRNPH2, BTK | GRCh38.p7 | X:101391786 | AGTTTGCCCACCATA[A/G]CCACTCTGCTTCCTG | 695 |
rs3027596 | snp | C/T | 0.00219416 | 0.0330494 | intron-variant, upstream-variant-2KB | RPL36A, RPL36A-HNRNPH2, BTK | GRCh38.p7 | X:101391602 | ATTCTACAACACAAA[C/T]GTCACATTAACACCA | 695 |
rs3027597 | snp | C/T | 0.00228102 | 0.0336943 | intron-variant, upstream-variant-2KB | RPL36A, RPL36A-HNRNPH2, BTK | GRCh38.p7 | X:101391081 | GGGGGAAAGATTAAG[C/T]TGGATGTTACTCGGC | 695 |
rs3027598 | snp | A/G | 0.147676 | 0.2281 | upstream-variant-2KB, utr-variant-5-prime | RPL36A, RPL36A-HNRNPH2, BTK | GRCh38.p7 | X:101390571 | ACCTGGAGGGAGCCA[A/G]TTGTTCCAGTTCATC | 695 |
rs3027599 | snp | A/C | 0.119531 | 0.213255 | upstream-variant-2KB, intron-variant | RPL36A, RPL36A-HNRNPH2, BTK | GRCh38.p7 | X:101389617 | ATAGGGGCTGAAGAA[A/C]CGTGAGAGTCTGGGG | 695 |
rs3027600 | snp | A/G | 0.479574 | 0.0989738 | upstream-variant-2KB, intron-variant | RPL36A, RPL36A-HNRNPH2, BTK | GRCh38.p7 | X:101389579 | CTTGCACAACCCTCC[A/G]GGAACACGCGTGGGA | 695 |
rs3027601 | snp | C/T | 0.327237 | 0.23777 | upstream-variant-2KB, intron-variant | RPL36A, RPL36A-HNRNPH2, BTK | GRCh38.p7 | X:101388988 | CACCAATGCTGACAC[C/T]GAGGTGGGAGGATCG | 695 |
rs3027602 | snp | A/G | 0.15252 | 0.230212 | upstream-variant-2KB, intron-variant | RPL36A, RPL36A-HNRNPH2, BTK | GRCh38.p7 | X:101388948 | TTCTCTGTTTTGGAC[A/G]TGCTCCTGCTCATTA | 695 |
rs3027603 | snp | A/T | 0.0409784 | 0.137149 | intron-variant | BTK | GRCh38.p7 | X:101388435 | AGAACCTTATATTGC[A/T]TTGGGAATCTCTTCA | 695 |
rs3027604 | snp | A/G | 0.159114 | 0.232894 | intron-variant | BTK | GRCh38.p7 | X:101388418 | TGGGAATCTCTTCAG[A/G]TGACACTCAGCTGTT | 695 |
rs3027605 | snp | A/G | 0.0660089 | 0.169255 | intron-variant | BTK | GRCh38.p7 | X:101385593 | CCACGTTATGAAGTT[A/G]ACCTTTGTGAGCTAG | 695 |
rs3027606 | snp | C/T | 0.0333324 | 0.12472 | intron-variant | BTK | GRCh38.p7 | X:101383452 | AGAAAGGGGGCTCTC[C/T]AAAACTATTTGGAAC | 695 |
rs3027607 | snp | A/G | 0.288535 | 0.247012 | intron-variant | BTK | GRCh38.p7 | X:101380075 | TATTCACAGTAAGCA[A/G]TAAGAACCCTAGGGA | 695 |
rs3027608 | snp | C/T | 0.016289 | 0.0887646 | intron-variant | BTK | GRCh38.p7 | X:101379802 | GCAGAGGAAAGAGCT[C/T]AGGATCTTGAATACT | 695 |
rs3027609 | snp | A/T | | | intron-variant | BTK | GRCh38.p7 | X:101384778 | GCCACAAAATGCAAA[A/T]ACTCATGGCAACCTA | 695 |
rs3027610 | snp | C/T | 0.0115877 | 0.0752302 | intron-variant | BTK | GRCh38.p7 | X:101382637 | CAGTTGGCCAGAATA[C/T]ATTGTCGCTAATGCA | 695 |
rs3027611 | snp | A/C | 0.246302 | 0.249973 | intron-variant | BTK | GRCh38.p7 | X:101382592 | GATGAATCACAGAGA[A/C]CTAGAAGTTTCCAAA | 695 |
rs3027612 | snp | C/T | 0.0550819 | 0.156547 | intron-variant | BTK | GRCh38.p7 | X:101382231 | TTTCCCTGGTCAGCA[C/T]GCAGCTTTCGAAAAT | 695 |
rs3027613 | snp | A/G | 0.47715 | 0.104416 | intron-variant | BTK | GRCh38.p7 | X:101382140 | TATCATAAAATAATT[A/G]GGTTTCACTGGGGCC | 695 |
rs3027614 | snp | A/G | 0.123219 | 0.215468 | intron-variant | BTK | GRCh38.p7 | X:101379625 | AAAAAACAAATAAAC[A/G]AACAAAAATCCCTCC | 695 |
rs3027615 | snp | A/G | 0.492017 | 0.0626724 | intron-variant | BTK | GRCh38.p7 | X:101379264 | ATTTTATTTTAAATC[A/G]TATCTCATAGACTCT | 695 |
rs3027616 | snp | A/T | | | intron-variant | BTK | GRCh38.p7 | X:101378829 | AAGATGGTTTAGTTT[A/T]CTGATTCTGCAAGTG | 695 |
rs3027617 | snp | A/T | | | intron-variant | BTK | GRCh38.p7 | X:101378789 | TTAATTCCTTGGCAT[A/T]CTGCAGTTTGTATGA | 695 |
rs3027618 | snp | C/T | | | intron-variant | BTK | GRCh38.p7 | X:101377678 | AGGAAGACTTCCTCT[C/T]GTACAAACTGGATTT | 695 |
rs3027619 | snp | A/T | | | intron-variant | BTK | GRCh38.p7 | X:101377421 | GTACTCAATTTATTT[A/T]GGGTTTTATTTTTTA | 695 |
rs3027620 | snp | A/C | | | intron-variant | BTK | GRCh38.p7 | X:101377054 | CAAAATATTGAATTA[A/C]TCCACCTCCAGAAGA | 695 |
rs3027621 | snp | A/T | 0.016289 | 0.0887646 | intron-variant | BTK | GRCh38.p7 | X:101376849 | TCCTAGTGTGAGCAA[A/T]AATCTGCTTAAAAAG | 695 |
rs3027622 | snp | C/T | 0.0333324 | 0.12472 | intron-variant | BTK | GRCh38.p7 | X:101376267 | GTAATAATATTACAC[C/T]GTGCATAAACTGTAA | 695 |
rs3027623 | snp | C/T | 0.405287 | 0.195924 | intron-variant | BTK | GRCh38.p7 | X:101376150 | GTTACCTAAATTGAA[C/T]CCTTCTGGAGTATTG | 695 |
rs3027624 | snp | A/G | 0.0333324 | 0.12472 | intron-variant | BTK | GRCh38.p7 | X:101375786 | AATGTTTGAAAAATT[A/G]TATTCACCGTCTAGG | 695 |
rs3027625 | snp | A/C | 0.0183711 | 0.0940641 | intron-variant | BTK | GRCh38.p7 | X:101375476 | CCATTATACCTGAAA[A/C]CTGACAGAGCTGGGG | 695 |
rs3027626 | snp | A/T | | | intron-variant | BTK | GRCh38.p7 | X:101374375 | GTTATAAAGAATCTT[A/T]GCTTCTTTCCTTCAT | 695 |
rs3027627 | snp | C/T | 0.0348667 | 0.127349 | intron-variant | BTK | GRCh38.p7 | X:101374366 | AATCTTAGCTTCTTT[C/T]CTTCATATTCAGAAC | 695 |
rs3027628 | snp | A/G | 0.0115877 | 0.0752302 | intron-variant | BTK | GRCh38.p7 | X:101374129 | TCCGGAGCGAGAGAC[A/G]TAAAACCTACTGATT | 695 |
rs3027629 | snp | A/G | 0.356976 | 0.225956 | intron-variant | BTK | GRCh38.p7 | X:101371876 | CTTGACTGGGTATGT[A/G]TTGGGTCGTATTGGA | 695 |
rs3027630 | snp | A/T | | | intron-variant | BTK | GRCh38.p7 | X:101371322 | TTGAGTGAGCATTTC[A/T]CTTCCTTCTGGTTCT | 695 |
rs3027631 | snp | A/T | | | intron-variant | BTK | GRCh38.p7 | X:101370310 | CAAGTCAGGAGGACC[A/T]AAGAGTATGAAAAAT | 695 |
rs3027632 | snp | A/G | 0.0575773 | 0.159604 | intron-variant | BTK | GRCh38.p7 | X:101370203 | ACCATTGCTGACTGA[A/G]GATTCTGCCTTTCTT | 695 |
rs3027633 | snp | A/C | | | intron-variant | BTK | GRCh38.p7 | X:101369747 | aagaaagacaaataa[A/C]aaagaaacaaaggaa | 695 |
rs3027634 | snp | C/T | 0.0131573 | 0.0800346 | intron-variant | BTK | GRCh38.p7 | X:101369228 | GTAAATCACTGTATA[C/T]GAAAGCACTGTACAT | 695 |
rs3027635 | snp | C/T | 0.00738971 | 0.0603345 | intron-variant | BTK | GRCh38.p7 | X:101369029 | TATATAGCCACATGT[C/T]AAGTGACTGAGAGAT | 695 |
rs3027636 | snp | G/T | 0.0068637 | 0.0581785 | intron-variant | BTK | GRCh38.p7 | X:101368836 | AATGCAAGTTTGGTT[G/T]GTCAAAATTATATTA | 695 |
rs3027637 | snp | C/T | | | intron-variant | BTK | GRCh38.p7 | X:101368268 | GGGGTCTGCTTTAGC[C/T]CTGGGGCTACAAAAT | 695 |
rs3027638 | snp | C/T | 0.0333324 | 0.12472 | intron-variant | BTK | GRCh38.p7 | X:101366466 | ACCAATAAGAAATCA[C/T]TGACATGAAAAGGGG | 695 |
rs3027639 | snp | C/T | 0.248185 | 0.249993 | intron-variant | BTK | GRCh38.p7 | X:101365260 | TCTACTGGTGCCCAG[C/T]CCTGCAGAAGACAGA | 695 |
rs3027640 | snp | A/G | 0.00475057 | 0.0485048 | intron-variant | BTK | GRCh38.p7 | X:101363291 | CACAACTCCATGAGG[A/G]AATGAAGCTGCTGTG | 695 |
rs3027641 | snp | A/G | 0.296047 | 0.245723 | intron-variant | BTK | GRCh38.p7 | X:101362001 | CTCGATGGAAAGATA[A/G]AAGGCTCTCAGCAAC | 695 |
rs3027643 | snp | C/T | 0.243274 | 0.249909 | intron-variant | BTK | GRCh38.p7 | X:101356444 | GGCTCCAAATCCCTG[C/T]TTGCTTCCACATTTT | 695 |
rs3027644 | snp | C/G | 0.0115877 | 0.0752302 | intron-variant | BTK | GRCh38.p7 | X:101355770 | TCAGTGGCCATTCTG[C/G]ATTTGGAACAGAAGG | 695 |
rs3027645 | snp | A/T | | | intron-variant | BTK | GRCh38.p7 | X:101354499 | TCTGCCGATCTTTCT[A/T]TTCTTTTTCTTCCTC | 695 |
rs3027646 | snp | A/G | 2.27907e-05 | 0.00337562 | missense | BTK | GRCh38.p7 | X:101353220 | TCAGAGAAGGTATAT[A/G]CCATCATGTACAGTT | 695 |
rs3027648 | snp | A/G | 0.0369084 | 0.130736 | downstream-variant-500B, upstream-variant-2KB | BTK, TIMM8A | GRCh38.p7 | X:101349188 | GCCTCATTTCCCTAC[A/G]TCGGGAGAGGAAAAC | 695 |
rs3208811 | snp | G/T | 0 | 0 | synonymous-codon | BTK | GRCh38.p7 | X:101353934 | CAAATTTCCAGTCCG[G/T]TGGTCCCCACCGGAA | 695 |
rs3208812 | snp | A/C/G | 0.000250804 | 0.0111955 | synonymous-codon | BTK | GRCh38.p7 | X:101353922 | CCGGTGGTCCCCACC[A/C/G]GAAGTCCTGATGTAT | 695 |
rs3208813 | snp | C/T | 0 | 0 | synonymous-codon | BTK | GRCh38.p7 | X:101353915 | TCCCCACCGGAAGTC[C/T]TGATGTATAGCAAGT | 695 |
rs3216389 | in-del | -/C | 0.288535 | 0.247012 | intron-variant, utr-variant-5-prime | BTK | GRCh38.p7 | X:101378006 | CTGTGTGTTACACAC[-/C]AACCTTCTGGAGGAC | 695 |
rs3216787 | in-del | -/G | 0.000183173 | 0.00956834 | intron-variant, upstream-variant-2KB | RPL36A, RPL36A-HNRNPH2, BTK | GRCh38.p7 | X:101391092 | GGCGACGAAGGGGGG[-/G]AAAGATTAAGCTGGA | 695 |
rs3747288 | snp | A/G | 0.452008 | 0.147285 | intron-variant | BTK | GRCh38.p7 | X:101356297 | TGCAGAGCCAAAAGG[A/G]GAAGACTAGTTCCTT | 695 |
rs3788762 | snp | C/T | | | intron-variant | BTK | GRCh38.p7 | X:101367591 | tggagtgcaatggca[C/T]gatctcggctcactg | 695 |
rs3788763 | snp | A/T | 0.241372 | 0.249851 | intron-variant | BTK | GRCh38.p7 | X:101357938 | TACAGGTTAGACAAC[A/T]TCAGAAGAAAGTTTA | 695 |
rs5903183 | in-del | -/G | | | intron-variant | BTK | GRCh38.p7 | X:101365901 | AAAGAGAGAGTCTGT[-/G]GCTAAGCCCACAGGA | 695 |
rs5951303 | snp | C/T | 0.489731 | 0.070916 | intron-variant | BTK | GRCh38.p7 | X:101380652 | TATCATTCCTAGGTA[C/T]GTTTTCATATTATTA | 695 |
rs5951304 | snp | A/T | 0.0550819 | 0.156547 | intron-variant | BTK | GRCh38.p7 | X:101382406 | atcttggctcactgc[A/T]atcgctacctcccag | 695 |
rs5951305 | snp | C/T | 0.0550819 | 0.156547 | intron-variant | BTK | GRCh38.p7 | X:101382433 | ccagtttcaagcaat[C/T]ctcttgcctcagcct | 695 |
rs5951306 | snp | C/T | 0.0555816 | 0.157167 | intron-variant | BTK | GRCh38.p7 | X:101385009 | agcacttactattgc[C/T]aggccctgttttaaa | 695 |
rs5951307 | snp | A/G | 0.311965 | 0.242199 | upstream-variant-2KB, intron-variant | RPL36A, RPL36A-HNRNPH2, BTK | GRCh38.p7 | X:101389133 | cctcaccacccccat[A/G]gtaactatggatggt | 695 |
rs5951308 | snp | C/T | 0.447948 | 0.152698 | upstream-variant-2KB, missense | RPL36A, RPL36A-HNRNPH2, BTK | GRCh38.p7 | X:101390479 | TTAGattactgtacc[C/T]ctcccccggaacagt | 695 |
rs5951412 | snp | G/T | 0.150419 | 0.229311 | intron-variant | BTK | GRCh38.p7 | X:101360037 | ATATATATATATATA[G/T]AGAGAGAGAGTTCCT | 695 |
rs5951413 | snp | C/T | 0.0152462 | 0.0859689 | intron-variant | BTK | GRCh38.p7 | X:101360516 | CCGCAGCACTTTTTG[C/T]GTGTAGGGAGTGGGC | 695 |