SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs20550 | snp | C/T | 0.00370433 | 0.0428771 | synonymous-codon | HIRA | GRCh38.p7 | 22:19383643 | AAGAATCACGCCTCT[C/T]TGCATAGCACAGCTG | 7290 |
rs728782 | snp | C/T | 0 | 0 | intron-variant | HIRA | GRCh38.p7 | 22:19414617 | CTCCTGGGAACACTT[C/T]CTGCACTGCCCAATA | 7290 |
rs737810 | snp | A/G | 0.292523 | 0.246357 | intron-variant | HIRA | GRCh38.p7 | 22:19360676 | GGCACCATGGCAGGA[A/G]AGGCCTAGATACTAT | 7290 |
rs756652 | snp | G/T | 0.449979 | 0.150028 | intron-variant | HIRA | GRCh38.p7 | 22:19358477 | CTGCCTTGAGGGGAG[G/T]GACAGAGAGTGGGAG | 7290 |
rs768620 | snp | G/T | 0 | 0 | intron-variant | HIRA | GRCh38.p7 | 22:19370510 | ctgtagtcaatccta[G/T]cattctgggaggccg | 7290 |
rs885981 | snp | A/G | 0.295343 | 0.245854 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19350110 | cagcatgaaatagca[A/G]cctgccagtattcta | 7290 |
rs885982 | snp | C/T | 0.089084 | 0.191327 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19350678 | TTCATGACACCTCTG[C/T]GCCAACTCTGCCAAG | 7290 |
rs916594 | snp | C/G | 0.450734 | 0.149016 | intron-variant | HIRA | GRCh38.p7 | 22:19362067 | aattatgcctcaaaa[C/G]taaaggagaaataat | 7290 |
rs916595 | snp | A/G | 0.426813 | 0.17674 | intron-variant | HIRA | GRCh38.p7 | 22:19400545 | TATCCTTCCAGATAC[A/G]ATCCTTTAGAATCAC | 7290 |
rs986703 | snp | C/G | 0.291493 | 0.246533 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19347290 | AACCAAGGATTTCCA[C/G]ATAGGGTAAAATGTC | 7290 |
rs1008241 | snp | C/G | 0.407845 | 0.193868 | intron-variant | HIRA | GRCh38.p7 | 22:19411129 | GCCTAGACAGAAGGA[C/G]TGCTATTTGTCTTTT | 7290 |
rs1008246 | snp | A/G/T | 0.00676737 | 0.0577909 | intron-variant | HIRA | GRCh38.p7 | 22:19385274 | AGAAGGATAAAATTC[A/G/T]TAAGTTCTTACAAGA | 7290 |
rs1009787 | snp | G/T | 0.415563 | 0.18732 | intron-variant | HIRA | GRCh38.p7 | 22:19385261 | TACGAATTTTATCCT[G/T]CTGGTCTTTCTAAAA | 7290 |
rs1058472 | snp | A/C | 0 | 0 | missense, intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19331526 | GAGCTGCTGAAGGAG[A/C]TGCTACCAGTCATCG | 7290 |
rs1128399 | snp | C/T | 0.186286 | 0.241745 | utr-variant-5-prime, upstream-variant-2KB, missense | MRPL40, HIRA | GRCh38.p7 | 22:19432586 | TGCGAAGTATCTCGC[C/T]AGCCCTGCGCCCGAC | 7290 |
rs1136028 | snp | A/G | 0.002157 | 0.0327696 | synonymous-codon | HIRA | GRCh38.p7 | 22:19356246 | GAAAGAAGAGTCTCT[A/G]CACTCCATCCTGGCA | 7290 |
rs1136029 | snp | A/T | | | missense | HIRA | GRCh38.p7 | 22:19354014 | GACCGTTAGCCATAA[A/T]CCAGGGCCGCACCTC | 7290 |
rs1210690 | snp | C/T | 0.121786 | 0.214619 | utr-variant-3-prime, intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19331099 | GCTGAAGCAGCATGG[C/T]GCCTGCAGCAGCAGG | 7290 |
rs1210691 | snp | C/T | 0.0930568 | 0.194599 | intron-variant, downstream-variant-500B | HIRA, LOC105372859 | GRCh38.p7 | 22:19334471 | gtctggccaacatgg[C/T]gaaaccccatctcta | 7290 |
rs1210692 | snp | C/T | 0.0879971 | 0.190408 | intron-variant, downstream-variant-500B | HIRA, LOC105372859 | GRCh38.p7 | 22:19334485 | gcgaaaccccatctc[C/T]actaaaaatacaaaa | 7290 |
rs1210693 | snp | C/T | 0.294064 | 0.246086 | intron-variant, downstream-variant-500B | HIRA, LOC105372859 | GRCh38.p7 | 22:19334514 | aaattaggccaggcg[C/T]ggtggctcacgccta | 7290 |
rs1210694 | snp | G/T | 0.197393 | 0.244402 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19334898 | gtttttctgccttct[G/T]ttgaatgaatgtatt | 7290 |
rs1210695 | snp | C/T | 0.295854 | 0.245759 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19334987 | gctttgggatttgta[C/T]gtgtatgtgcatgag | 7290 |
rs1210696 | snp | C/G | 0.0887219 | 0.191022 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19335544 | gccaccgcgccGAAC[C/G]AGAACTTTTTTACAT | 7290 |
rs1210697 | snp | A/G | 0.197393 | 0.244402 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19337785 | aggtaacctatacac[A/G]aaagcctatcggatt | 7290 |
rs1210698 | snp | C/G | 0.031825 | 0.122064 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19338669 | gcagaaatagctatt[C/G]ttatatcagacaaaa | 7290 |
rs1210699 | snp | C/T | 0.0887219 | 0.191022 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19339472 | aaaccccgtctctat[C/T]aaaaatagaaaaaaa | 7290 |
rs1210700 | snp | C/G | 0.295854 | 0.245759 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19340139 | aaaatactacctaat[C/G]gaatcaaatggtgta | 7290 |
rs1210701 | snp | A/G | 0.296364 | 0.245663 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19340221 | gaagacttaacgtac[A/G]catgtcaataaatga | 7290 |
rs1210702 | snp | C/T | 0.202343 | 0.245416 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19340415 | cagttgactttatac[C/T]gaaaagggaaaagat | 7290 |
rs1210703 | snp | A/T | 0.295599 | 0.245806 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19340899 | tggaaacacatctaa[A/T]gctcatggtaggtaa | 7290 |
rs1210704 | snp | A/G | 0.295343 | 0.245854 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19342448 | ctggaatgcagtggc[A/G]cgatctcggctcact | 7290 |
rs1210705 | snp | C/T | 0.295343 | 0.245854 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19342607 | tggctgtgctggtct[C/T]gaactcctgacctca | 7290 |
rs1210706 | snp | C/T | 0.294832 | 0.245947 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19344151 | AAAAAGAACTATACC[C/T]AAAGCTAGCAgaaga | 7290 |
rs1210708 | snp | C/T | 0.157311 | 0.232183 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19347400 | AAATGTTAGCATCTG[C/T]AGCTGATATCTGAGA | 7290 |
rs1210709 | snp | A/C | 0.296364 | 0.245663 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19348091 | AAACTAGCCTCTATA[A/C]CAGCTGGCACCCAGC | 7290 |
rs1210710 | snp | A/G | 0.295343 | 0.245854 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19349074 | taggcatgagccacc[A/G]cgcctggcctgatac | 7290 |
rs1210711 | snp | C/T | 0.292266 | 0.246401 | intron-variant | HIRA | GRCh38.p7 | 22:19352112 | TGGGGTCCACTTTTA[C/T]ACTAGATTCCTCCTT | 7290 |
rs1210712 | snp | C/T | 0.363776 | 0.222609 | intron-variant | HIRA | GRCh38.p7 | 22:19355025 | CAATCCTCTCAGCCT[C/T]CCACAGCGCTGGGAT | 7290 |
rs1210713 | snp | G/T | 0 | 0 | intron-variant | HIRA | GRCh38.p7 | 22:19355365 | GATAAGCATCCTTAC[G/T]AATTCACTGAGGAAG | 7290 |
rs1210714 | snp | A/C/T | 0.199446 | 0.252842 | intron-variant | HIRA | GRCh38.p7 | 22:19357701 | AGGCTGGAGCTCAGA[A/C/T]GCAGGCAGGGGTAGC | 7290 |
rs1210715 | snp | C/T | 0.29789 | 0.24537 | intron-variant | HIRA | GRCh38.p7 | 22:19357770 | GGCCACCCAGAGCCC[C/T]GCTTTGTGTCACTTC | 7290 |
rs1210716 | snp | C/G | 0.298144 | 0.245321 | intron-variant | HIRA | GRCh38.p7 | 22:19358691 | AAAGCATTTACATGG[C/G]ACCTCATGGCAGATG | 7290 |
rs1473108 | snp | A/G | 0.290201 | 0.246747 | intron-variant | HIRA | GRCh38.p7 | 22:19420074 | tgtgtgtgtgtgCAC[A/G]CGCCACAAACTAAAG | 7290 |
rs1473109 | snp | C/T | 0.415399 | 0.187465 | intron-variant | HIRA | GRCh38.p7 | 22:19420432 | gatcacgccactgca[C/T]tgcagcctgggcaac | 7290 |
rs1548360 | snp | A/T | 0 | 0 | intron-variant | HIRA | GRCh38.p7 | 22:19382816 | ATCATTTTGGGAAGA[A/T]TAACCAATTCAAAAA | 7290 |
rs1807459 | snp | C/G | 0.0887219 | 0.191022 | intron-variant | HIRA | GRCh38.p7 | 22:19396307 | gatcacctgaggtca[C/G]gagttcgagaccagc | 7290 |
rs2013516 | snp | C/T | 0.417034 | 0.18601 | intron-variant | HIRA | GRCh38.p7 | 22:19385133 | TCCCTACCCTTTTCC[C/T]GCCCCATTTCCAACC | 7290 |
rs2023639 | snp | C/T | 0.0887219 | 0.191022 | intron-variant | HIRA | GRCh38.p7 | 22:19360207 | GCCGAGGGCTGACTG[C/T]CCCCTTCACAGACCC | 7290 |
rs2051670 | snp | C/T | 0.330482 | 0.236691 | intron-variant | HIRA | GRCh38.p7 | 22:19377107 | GTAGGCCTGTATGAG[C/T]CCTGTGGAGGGTACC | 7290 |
rs2073753 | snp | C/G | 0 | 0 | intron-variant | HIRA | GRCh38.p7 | 22:19396970 | GAAAAAAGGAATGTG[C/G]AGAGGTGTTGTCTGA | 7290 |
rs2073773 | snp | G/T | 0.295088 | 0.245901 | intron-variant | HIRA | GRCh38.p7 | 22:19375095 | AACTACAACCTGCGT[G/T]ATGTCACAGCTGTGT | 7290 |
rs2097602 | snp | G/T | 0 | 0 | intron-variant | HIRA | GRCh38.p7 | 22:19422904 | cctatatccaggctg[G/T]ggacacgggagtaaa | 7290 |
rs2097605 | snp | C/T | 0.112307 | 0.208664 | intron-variant | HIRA | GRCh38.p7 | 22:19388601 | AATTACTGAAATCCC[C/T]TTCTGTATTCAGCTC | 7290 |
rs2106142 | snp | G/T | 0 | 0 | intron-variant | HIRA | GRCh38.p7 | 22:19413783 | CGCCCAGCTAATTTT[G/T]GTATTTTTAGTAGAA | 7290 |
rs2106144 | snp | C/T | 0.0329836 | 0.124112 | intron-variant | HIRA | GRCh38.p7 | 22:19395036 | AAAGGGTGGTGAGGA[C/T]ACCCGCAAGGGAGAA | 7290 |
rs2106145 | snp | C/T | 0.414741 | 0.188044 | intron-variant | HIRA | GRCh38.p7 | 22:19395328 | AGCTCTCAGCCTAGG[C/T]GACAGAACCACCCCC | 7290 |
rs2238763 | snp | C/T | 0.360842 | 0.224085 | intron-variant | HIRA | GRCh38.p7 | 22:19354665 | ATACAAAGATGCCTA[C/T]AGAGAGTCAATATTT | 7290 |
rs2238764 | snp | C/T | 0.0520825 | 0.152737 | intron-variant | HIRA | GRCh38.p7 | 22:19360635 | TGAGGTACAAGGGTA[C/T]GCAGAGAGGCAGCAG | 7290 |
rs2238765 | snp | C/T | 0.0520825 | 0.152737 | intron-variant | HIRA | GRCh38.p7 | 22:19360758 | GAATTGTGTTTTGGA[C/T]AACCACATGCTTACA | 7290 |
rs2238766 | snp | G/T | 0.298651 | 0.24522 | intron-variant | HIRA | GRCh38.p7 | 22:19360876 | GATTATGACCACACA[G/T]TCCCACAGACACCAA | 7290 |
rs2238767 | snp | C/T | 0.418491 | 0.184691 | intron-variant | HIRA | GRCh38.p7 | 22:19398500 | AATGCCTGGCACAGT[C/T]AGAACTCCAGGGCTG | 7290 |
rs2238768 | snp | C/T | 0.292008 | 0.246445 | intron-variant | HIRA | GRCh38.p7 | 22:19399110 | GGTCCGCTGTGACGA[C/T]GGTGCCAACCTTGCC | 7290 |
rs2239392 | snp | A/G | 0.414576 | 0.188188 | intron-variant | HIRA | GRCh38.p7 | 22:19386391 | TAGTGACTGCTGTAC[A/G]TGAAAGTGCATGAGG | 7290 |
rs2277837 | snp | A/C | 0.424659 | 0.17887 | upstream-variant-2KB, utr-variant-5-prime | MRPL40, HIRA | GRCh38.p7 | 22:19432328 | AGGCGCGCTCCCAGC[A/C]CAGGGCGGGGACGGA | 7290 |
rs2283648 | snp | G/T | 0.00199481 | 0.0315187 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19347404 | GTTAGCATCTGCAGC[G/T]GATATCTGAGAAGAT | 7290 |
rs2283649 | snp | A/G | 0.461148 | 0.133852 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19347926 | CCCGGGTGACAGAGC[A/G]AGACTCCGTCTCAAA | 7290 |
rs2283650 | snp | G/T | 0.453697 | 0.14494 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19350889 | CTCTTCTCCTTGGGT[G/T]TCATCCGCAGTGTCC | 7290 |
rs2283651 | snp | C/T | 0.163564 | 0.234582 | intron-variant | HIRA | GRCh38.p7 | 22:19374128 | ACCTGAGGTCAGGAG[C/T]TTGAGACCAGCGTGG | 7290 |
rs2283652 | snp | C/T | 0.47709 | 0.104548 | intron-variant | HIRA | GRCh38.p7 | 22:19374619 | TCCAGACATGCAGTT[C/T]TGGACAGGGCTTTTC | 7290 |
rs2283653 | snp | A/G | 0.415399 | 0.187465 | intron-variant | HIRA | GRCh38.p7 | 22:19423915 | TAAGGCTTGGGCAGA[A/G]TGTTTCCCCTCATCA | 7290 |
rs2285334 | snp | C/T | 0.299411 | 0.245069 | intron-variant | HIRA | GRCh38.p7 | 22:19377763 | TTCTTTCTTTTTTGA[C/T]TGAAGGGGCCACAAA | 7290 |
rs2871026 | snp | C/T | 0.448963 | 0.151372 | intron-variant | HIRA | GRCh38.p7 | 22:19391200 | gtgcagcaacataca[C/T]gaatctcaaaaacac | 7290 |
rs2871027 | snp | C/T | 0.44768 | 0.153045 | intron-variant | HIRA | GRCh38.p7 | 22:19393808 | TTCTCACAGATTATT[C/T]GCAACTACTTAACAG | 7290 |
rs2871028 | snp | C/G | 0.455024 | 0.143057 | intron-variant | HIRA | GRCh38.p7 | 22:19416059 | tagaacaacagaata[C/G]agagcccagaaataa | 7290 |
rs3080867 | in-del | -/GCCCTGGC | 0.41507 | 0.187755 | intron-variant | HIRA | GRCh38.p7 | 22:19396088 | AGTCTCCTCCATCCT[-/GCCCTGGC]CCCCAACAAGCTGCT | 7290 |
rs3080880 | in-del | -/TTAT/TTATTTAT | 0.5 | 0 | intron-variant | HIRA | GRCh38.p7 | 22:19413630 | TATTTATTTATTTAT[-/TTAT/TTATTTAT]AGACAGAGTTTCGCT | 7290 |
rs3214093 | in-del | -/A/GA | 0.00056079 | 0.0167356 | intron-variant | HIRA | GRCh38.p7 | 22:19410790 | TTGCCTGGAAACAAA[-/A/GA]AAAAAAAATACAGTA | 7290 |
rs3747062 | snp | A/C/G/T | 0.0972824 | 0.20146 | intron-variant | HIRA | GRCh38.p7 | 22:19387977 | TTGGCCTGGGCGGGG[A/C/G/T]GGGGAGGGGGCGACA | 7290 |
rs3747063 | snp | C/T | 0.162581 | 0.234218 | intron-variant, utr-variant-5-prime, upstream-variant-2KB | MRPL40, HIRA | GRCh38.p7 | 22:19433040 | GTTCAAGCAGTTCTG[C/T]CCCGGCCTCCCGAGT | 7290 |
rs3747064 | snp | A/T | 0.016199 | 0.0885272 | intron-variant, utr-variant-5-prime, upstream-variant-2KB | MRPL40, HIRA | GRCh38.p7 | 22:19433255 | TTATACATACTCTTG[A/T]ATCTTTCAGGCTTCT | 7290 |
rs3788297 | snp | C/T | 0.0327778 | 0.123752 | intron-variant | HIRA | GRCh38.p7 | 22:19404547 | GACTCAATCTATGGC[C/T]GCCACCAAGATGGGT | 7290 |
rs3788298 | snp | A/G | 0.29046 | 0.246704 | intron-variant | HIRA | GRCh38.p7 | 22:19405005 | GCTTCAAAGCTTTTA[A/G]TGGCTCCCTATCTCT | 7290 |
rs3833376 | in-del | -/GTGGCCTGGTTCCCTTCT | | | intron-variant | HIRA | GRCh38.p7 | 22:19387944 | TCCTGGTTCCCTTCT[-/GTGGCCTGGTTCCCTTCT]TTGGCCTGGGCGGGG | 7290 |
rs3885488 | snp | C/G | | | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19335384 | ggtggcacatgcctg[C/G]agtcccagctactca | 7290 |
rs3885565 | snp | G/T | | | intron-variant | HIRA | GRCh38.p7 | 22:19397401 | GCAGGCATGCAAGCT[G/T]TAGAGACCGGAGTTT | 7290 |
rs3885567 | snp | C/T | | | intron-variant | HIRA | GRCh38.p7 | 22:19397400 | CAGGCATGCAAGCTT[C/T]AGAGACCGGAGTTTT | 7290 |
rs3885568 | snp | A/T | | | intron-variant | HIRA | GRCh38.p7 | 22:19397399 | AGGCATGCAAGCTTT[A/T]GAGACCGGAGTTTTA | 7290 |
rs4479520 | snp | C/T | 0.117537 | 0.212022 | intron-variant | HIRA | GRCh38.p7 | 22:19411314 | ACAGTTTGTACTCTA[C/T]GTTAAATTAGCTGTT | 7290 |
rs4585115 | snp | G/T | 0.0887219 | 0.191022 | upstream-variant-2KB, utr-variant-5-prime | MRPL40, HIRA | GRCh38.p7 | 22:19432432 | CGGGGGCGGGGACAG[G/T]CGCGTCCCAGCCCAC | 7290 |
rs4594539 | snp | A/G | 0.089084 | 0.191327 | intron-variant | HIRA | GRCh38.p7 | 22:19418396 | ttgggaggctgaggc[A/G]ggtggatcatgaggt | 7290 |
rs4819801 | snp | A/G | 0 | 0 | intron-variant | HIRA | GRCh38.p7 | 22:19390732 | TGAAATGGACTAATA[A/G]AGGCGTCAGCTTTCT | 7290 |
rs4819802 | snp | G/T | | | intron-variant | HIRA | GRCh38.p7 | 22:19390961 | ggtactatttttttg[G/T]ttttttttttaattt | 7290 |
rs5746723 | snp | A/G | 0.497641 | 0.0342639 | intron-variant | HIRA, LOC105372859 | GRCh38.p7 | 22:19341828 | aagacttaaatctac[A/G]atctgaaaccacaac | 7290 |
rs5746725 | snp | C/T | 0.326035 | 0.238157 | intron-variant | HIRA | GRCh38.p7 | 22:19369990 | tcttgtttcgttttg[C/T]ttttgttttttgaga | 7290 |
rs5746726 | snp | A/G | 0.327211 | 0.237778 | intron-variant | HIRA | GRCh38.p7 | 22:19370256 | gccTGttttgttttt[A/G]ttcttgttttgagac | 7290 |
rs5746727 | snp | C/T | 0.298144 | 0.245321 | intron-variant | HIRA | GRCh38.p7 | 22:19371259 | GGGGGGACTCCTCTC[C/T]ATTGCCCTGTCTTCA | 7290 |
rs5746728 | snp | A/T | 0.326741 | 0.23793 | intron-variant | HIRA | GRCh38.p7 | 22:19374306 | aggacaatagacata[A/T]gccacaacacctgga | 7290 |
rs5746729 | snp | C/T | 0.172351 | 0.237636 | intron-variant | HIRA | GRCh38.p7 | 22:19379976 | ACCACGCCCAGCTAA[C/T]TTTTATATTTTTTAG | 7290 |
rs5746731 | snp | A/G | 0.0887219 | 0.191022 | intron-variant | HIRA | GRCh38.p7 | 22:19384256 | ctgaaccagggagtc[A/G]gaggttgcagtgagc | 7290 |