SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs274899 | snp | C/T | 0.475235 | 0.108485 | utr-variant-3-prime, upstream-variant-2KB | CFAP52, USP43 | GRCh38.p7 | 17:9643234 | TCTTCAACAGGACTG[C/T]GTGCAACGCCAAGGC | 146845 |
rs364423 | snp | C/G | 0.00279162 | 0.0372561 | intron-variant | CFAP52 | GRCh38.p7 | 17:9626786 | CTTTCTAACTAAGTA[C/G]TCCATCATTATAACT | 146845 |
rs368787 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | CFAP52 | GRCh38.p7 | 17:9622927 | GATCTCCaaagtaca[C/T]attgaaatattctat | 146845 |
rs389995 | snp | C/T | 0.495818 | 0.0455352 | intron-variant | CFAP52 | GRCh38.p7 | 17:9636253 | TAGTTATTTTTCTTT[C/T]TCTTTCTTTCTTTCT | 146845 |
rs418706 | snp | A/C | 0.291235 | 0.246576 | intron-variant | CFAP52 | GRCh38.p7 | 17:9635332 | AAAAGATTCCAAGAG[A/C]TTTTTCCCCTTTGCT | 146845 |
rs419461 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | CFAP52 | GRCh38.p7 | 17:9639227 | ctgaggtcaggagtt[C/T]gagaccagcctagcc | 146845 |
rs755307 | snp | A/G | 0.484491 | 0.0866827 | intron-variant | CFAP52 | GRCh38.p7 | 17:9591073 | TCCAGCCTGGGAAAC[A/G]AGAGTGAAACTCCAT | 146845 |
rs922016 | snp | A/G | 0.36955 | 0.219562 | intron-variant | CFAP52 | GRCh38.p7 | 17:9600621 | ccaggctggcgtgca[A/G]tggcgagatgtcggt | 146845 |
rs1698285 | snp | G/T | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9629748 | cgtgtgtcatcacga[G/T]gggctaattttttgt | 146845 |
rs1807022 | snp | A/C/G | 0.539677 | 0.182521 | intron-variant | CFAP52 | GRCh38.p7 | 17:9589481 | CTCACGCCTGAAATC[A/C/G]CAGCACTTTGGGAGG | 146845 |
rs1968765 | snp | A/G | 0.0637235 | 0.166737 | intron-variant | CFAP52 | GRCh38.p7 | 17:9585442 | gggaggctaaggtgg[A/G]cggatcacgaggtca | 146845 |
rs1979287 | snp | A/G | 0.127944 | 0.218179 | intron-variant | CFAP52 | GRCh38.p7 | 17:9595493 | ACGGGCTGTGGCGAC[A/G]CTCTTCAACTTTTTT | 146845 |
rs1979288 | snp | A/T | 0.0763149 | 0.179815 | intron-variant | CFAP52 | GRCh38.p7 | 17:9595603 | ATTGGTCCATTCTGA[A/T]GTCCATGAGCAACAT | 146845 |
rs2016355 | snp | C/T | 0.0452528 | 0.143452 | intron-variant | CFAP52 | GRCh38.p7 | 17:9600327 | gctcactgcaacttc[C/T]gcctcccaggttcaa | 146845 |
rs2034948 | snp | C/T | 0.477004 | 0.104734 | intron-variant | CFAP52 | GRCh38.p7 | 17:9609885 | ATACATGCTCAAGTT[C/T]GAAAGCCACAGCCCC | 146845 |
rs2054229 | snp | C/T | 0.35809 | 0.225425 | intron-variant | CFAP52 | GRCh38.p7 | 17:9603092 | TTTTTTGTTTTGTTT[C/T]GTTTTGTTTTCCTAG | 146845 |
rs2085579 | snp | A/G | 0.393619 | 0.204631 | intron-variant | CFAP52 | GRCh38.p7 | 17:9597650 | tctactaaaaataca[A/G]aaattagctgggcgt | 146845 |
rs2134311 | snp | C/G | 0 | 0 | intron-variant | CFAP52 | GRCh38.p7 | 17:9626926 | TCATGAAAAAATGTA[C/G]ACATTGCTTGAGATG | 146845 |
rs2271003 | snp | A/G | 0.00674831 | 0.0576942 | utr-variant-3-prime, upstream-variant-2KB | CFAP52, USP43 | GRCh38.p7 | 17:9643217 | TGATGAGATGTCTCT[A/G]AGCCTTGGCGTTGCA | 146845 |
rs2315137 | snp | A/T | 0 | 0 | intron-variant | CFAP52 | GRCh38.p7 | 17:9589745 | ctcaaaaaaaaaaaa[A/T]aaaaaaaaagaaaag | 146845 |
rs2315138 | snp | A/T | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9589749 | aaaaaaaaaaaaaaa[A/T]aaaaagaaaagaaAT | 146845 |
rs2654718 | snp | A/G | 0.490782 | 0.0672626 | intron-variant | CFAP52 | GRCh38.p7 | 17:9626214 | TTCCAAACTCTCTAC[A/G]CTTGATGGCCTATCC | 146845 |
rs2654722 | snp | C/T | 0.404559 | 0.196498 | intron-variant | CFAP52 | GRCh38.p7 | 17:9635999 | CCAACATGGTGAAAC[C/T]CCTTCTCTACTAAAA | 146845 |
rs2872833 | snp | C/T | 0.0663309 | 0.169604 | intron-variant | CFAP52 | GRCh38.p7 | 17:9579195 | TTAGAGCTAGTATAG[C/T]TTTTTAAAATAAACA | 146845 |
rs2937972 | snp | C/T | 0.0221141 | 0.102801 | intron-variant | CFAP52 | GRCh38.p7 | 17:9627249 | gcacagtggctcaca[C/T]ctgtaatcccagcac | 146845 |
rs2937973 | snp | A/G | 0.00716266 | 0.059414 | intron-variant | CFAP52 | GRCh38.p7 | 17:9629872 | TGGGATTACAGGAGT[A/G]AGCCACTGCACCCGG | 146845 |
rs3060109 | in-del | -/TTTT/TTTTTTT/TTTTTTTTT | 0 | 0 | intron-variant | CFAP52 | GRCh38.p7 | 17:9589815 | CTTTTTTTTTTTTTT[-/TTTT/TTTTTTT/TTTTTTTTT]GCAAGCAGAAAAAGC | 146845 |
rs3968764 | snp | A/G | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9627442 | acttggctttactcc[A/G]cctcccgggttcacg | 146845 |
rs4062872 | snp | C/T | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9627436 | ctttactccgcctcc[C/T]gggttcacgccattc | 146845 |
rs4062873 | snp | G/T | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9627434 | ttactccgcctcccg[G/T]gttcacgccattctc | 146845 |
rs4275899 | snp | C/T | 0.494187 | 0.0535994 | intron-variant | CFAP52 | GRCh38.p7 | 17:9579254 | AACTTTCATAAGGCT[C/T]GGGAGAGAAGATTTT | 146845 |
rs4341784 | snp | G/T | 0 | 0 | intron-variant | CFAP52 | GRCh38.p7 | 17:9625662 | GGCTCCCACATGTGA[G/T]AAAGCCACATGCTAA | 146845 |
rs4791352 | snp | C/T | 0.349671 | 0.229272 | intron-variant | CFAP52 | GRCh38.p7 | 17:9601228 | GAGAACACATGGACC[C/T]GGGAAAGGGAACATC | 146845 |
rs4791353 | snp | A/G | 0.398894 | 0.200825 | intron-variant | CFAP52 | GRCh38.p7 | 17:9601625 | CATTATAAGTCGTGA[A/G]CAAGACCTAGAAATA | 146845 |
rs4791854 | snp | A/C | 0.372391 | 0.217992 | intron-variant | CFAP52 | GRCh38.p7 | 17:9583182 | CCTGCAATTAGAAAA[A/C]TATAAAAAATTTTTA | 146845 |
rs6503230 | snp | C/T | 0.394538 | 0.203982 | upstream-variant-2KB | CFAP52, STX8 | GRCh38.p7 | 17:9576047 | CTCAGTTAAAATTGT[C/T]AAATAGAAACAAAGC | 146845 |
rs6503231 | snp | A/C | 0.434976 | 0.168179 | upstream-variant-2KB | CFAP52, STX8 | GRCh38.p7 | 17:9576359 | TGTACGCCTGATTAC[A/C]TATTTTTTAAATGCC | 146845 |
rs6503232 | snp | C/G | 0.0119091 | 0.0762411 | intron-variant | CFAP52 | GRCh38.p7 | 17:9586427 | AATTAGCAGGGCGTG[C/G]TGGTGCATGCCTGTA | 146845 |
rs6503233 | snp | G/T | 0.0788843 | 0.182262 | intron-variant | CFAP52 | GRCh38.p7 | 17:9598078 | ACCTGCCTCGTGGTG[G/T]TGTTATGAGGATCGA | 146845 |
rs6503234 | snp | C/T | 0.0123036 | 0.0774623 | intron-variant | CFAP52 | GRCh38.p7 | 17:9608512 | CCATGATGAAAGGAA[C/T]GGGATGTTATAAACT | 146845 |
rs6503235 | snp | A/G | 0.411273 | 0.191026 | missense | CFAP52 | GRCh38.p7 | 17:9612460 | CACTTTGATGCTGTC[A/G]AGGATATTGTCTTTC | 146845 |
rs6503236 | snp | A/G | 0.217551 | 0.247885 | intron-variant | CFAP52 | GRCh38.p7 | 17:9614606 | ATTCATTTGTTTATT[A/G]AACAAATTCATTTAT | 146845 |
rs7207303 | snp | C/T | 0.22263 | 0.248497 | intron-variant | CFAP52 | GRCh38.p7 | 17:9585390 | TTTTAAAGTGTTggc[C/T]gggcgcggtggctca | 146845 |
rs7209502 | snp | A/C | 0.0123036 | 0.0774623 | intron-variant | CFAP52 | GRCh38.p7 | 17:9611995 | TAAAGGGGTTAGTTG[A/C]TGTGGTCATTTGTAC | 146845 |
rs7210038 | snp | C/T | 0.373598 | 0.21731 | upstream-variant-2KB, intron-variant | CFAP52, STX8 | GRCh38.p7 | 17:9575731 | AGTGATTGCCTGCTC[C/T]CCGGAAGCCCGGCCT | 146845 |
rs7214348 | snp | A/G | 0.49645 | 0.0419827 | intron-variant | CFAP52 | GRCh38.p7 | 17:9591663 | cggaaaggatcactt[A/G]agcctagaagttcaa | 146845 |
rs7217559 | snp | A/G | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9596059 | GATATATATGTGTGT[A/G]TATATATATATATAT | 146845 |
rs7220517 | snp | A/G | 0.0410537 | 0.137264 | intron-variant | CFAP52 | GRCh38.p7 | 17:9597996 | GAGTGAGACGGAGCC[A/G]GGTGTGAATCCCTGC | 146845 |
rs7220694 | snp | A/G | 0.0364509 | 0.129988 | downstream-variant-500B, upstream-variant-2KB, intron-variant | CFAP52, USP43 | GRCh38.p7 | 17:9643868 | GGAGTTGGCCATTAC[A/G]TCTTTCTTCTGTGCT | 146845 |
rs7222390 | snp | C/T | 0.0189856 | 0.0955633 | intron-variant | CFAP52 | GRCh38.p7 | 17:9593486 | ttcgagacgcagtct[C/T]gctctcttgcccagg | 146845 |
rs7222448 | snp | G/T | 0.383379 | 0.211448 | intron-variant | CFAP52 | GRCh38.p7 | 17:9596722 | TGTGTGTGTGTGTGt[G/T]ttttttttttgagat | 146845 |
rs7224675 | snp | C/T | 0.397271 | 0.202018 | intron-variant | CFAP52 | GRCh38.p7 | 17:9583582 | ACTTATGAAGAAACA[C/T]ATCCTGTTTTTAAAA | 146845 |
rs7224680 | snp | C/T | 0.15665 | 0.231917 | intron-variant | CFAP52 | GRCh38.p7 | 17:9635894 | TAACGAATGCAAggt[C/T]gggcgtggtggcttc | 146845 |
rs7224817 | snp | A/C | 0.411526 | 0.190812 | upstream-variant-2KB, intron-variant | CFAP52, STX8 | GRCh38.p7 | 17:9575781 | CACCGCCGCCCTCAC[A/C]CGGGACTCACCAGGG | 146845 |
rs7225814 | snp | A/G | 0.228842 | 0.249103 | intron-variant | CFAP52 | GRCh38.p7 | 17:9608445 | ACTATTACCCAGAGG[A/G]ACACTGCCCATTTAA | 146845 |
rs7350938 | snp | C/T | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9618745 | caacctgctcctgaa[C/T]gactactgggtacat | 146845 |
rs7359617 | snp | A/G | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9619303 | aagactaaaccagga[A/G]gaagttgaatctctg | 146845 |
rs7359621 | snp | A/G | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9619384 | aaccaaaaagagtcc[A/G]ggaccagatggattc | 146845 |
rs7503761 | snp | A/G | 0.353803 | 0.227431 | intron-variant | CFAP52 | GRCh38.p7 | 17:9580880 | tacaattcttaatga[A/G]gataatctttgaGCT | 146845 |
rs7503872 | snp | A/G/T | 0.0115144 | 0.0749975 | intron-variant | CFAP52 | GRCh38.p7 | 17:9589751 | AAAAAAAAAAAAAAA[A/G/T]AAAGAAAAGAAATGT | 146845 |
rs8064915 | snp | C/G | 0.0383715 | 0.133092 | intron-variant | CFAP52 | GRCh38.p7 | 17:9578389 | acattactgaaatca[C/G]tctgttgtccaatca | 146845 |
rs8067557 | snp | G/T | 0.379942 | 0.213577 | intron-variant | CFAP52 | GRCh38.p7 | 17:9615752 | gtagctgggatgcag[G/T]catgtaccaccatgc | 146845 |
rs8068403 | snp | C/T | 0.151001 | 0.229563 | intron-variant | CFAP52 | GRCh38.p7 | 17:9615546 | TGTTTTATTTGGTTC[C/T]GTTTTAACCTTTGCT | 146845 |
rs8076248 | snp | C/T | 0.372391 | 0.217992 | intron-variant | CFAP52 | GRCh38.p7 | 17:9582845 | tttcgccatattggc[C/T]aggctggtctcaaac | 146845 |
rs8080111 | snp | A/G | 0.389903 | 0.207189 | intron-variant | CFAP52 | GRCh38.p7 | 17:9598693 | TTGAACCTGGGAGGC[A/G]GAAGTTGCGGTGAGC | 146845 |
rs8080667 | snp | C/T | 0.221439 | 0.248363 | intron-variant | CFAP52 | GRCh38.p7 | 17:9597757 | gcagtgagcagagat[C/T]gcgccactgcactcc | 146845 |
rs8182308 | snp | A/G | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9618839 | cagaatctctgggac[A/G]cattcaaagcagtgt | 146845 |
rs9674652 | snp | A/G | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9619132 | gaaaaaaagagagaa[A/G]aatcaaatagacaca | 146845 |
rs9786533 | snp | A/C | 0.48 | 0.0979796 | intron-variant | CFAP52 | GRCh38.p7 | 17:9618754 | CATTTCGTTATGTAC[A/C]CAGTAGTCGTTCAGG | 146845 |
rs9807067 | snp | A/C | 0 | 0 | intron-variant | CFAP52 | GRCh38.p7 | 17:9637552 | CTTGGTACAGTATCT[A/C]AGGCAGGGGTTCTAT | 146845 |
rs9889489 | snp | C/T | 0.468349 | 0.121752 | intron-variant | CFAP52 | GRCh38.p7 | 17:9603741 | agatgatgtagatga[C/T]gggttgatgggtgca | 146845 |
rs9889814 | snp | C/T | 0.431029 | 0.17242 | intron-variant | CFAP52 | GRCh38.p7 | 17:9603328 | ATTCTCCTGACTCAG[C/T]CTCCAGAGTAGCTGG | 146845 |
rs9889912 | snp | A/G | 0.0941369 | 0.195465 | upstream-variant-2KB, intron-variant | CFAP52, STX8 | GRCh38.p7 | 17:9575734 | GATTGCCTGCTCTCC[A/G]GAAGCCCGGCCTCCC | 146845 |
rs9891338 | snp | C/T | 0 | 0 | intron-variant | CFAP52 | GRCh38.p7 | 17:9605692 | agagtgagactccat[C/T]tgaaaaaaaaaaaaa | 146845 |
rs9891626 | snp | C/T | 0.0193679 | 0.0964822 | upstream-variant-2KB, intron-variant | CFAP52, STX8 | GRCh38.p7 | 17:9575747 | CCGGAAGCCCGGCCT[C/T]CCCGAAGGTCCCTCC | 146845 |
rs9897098 | snp | A/T | 0 | 0 | intron-variant | CFAP52 | GRCh38.p7 | 17:9580129 | AGATcaggagtctac[A/T]aactatagcccatgg | 146845 |
rs9897757 | snp | A/T | 0.000798403 | 0.0199641 | intron-variant | CFAP52 | GRCh38.p7 | 17:9634440 | acctgagctcaggag[A/T]ttgagaccagcctgg | 146845 |
rs9898166 | snp | A/G | 0.0107246 | 0.0724382 | intron-variant | CFAP52 | GRCh38.p7 | 17:9589017 | TGAGGCAGGAGAATC[A/G]CTTGAACCTGGGAGG | 146845 |
rs9900804 | snp | A/T | 0.486595 | 0.0807641 | intron-variant | CFAP52 | GRCh38.p7 | 17:9622575 | agaagaagaagaaGA[A/T]GATGATGATGATGAG | 146845 |
rs9901292 | snp | A/G | 0.112631 | 0.208878 | intron-variant | CFAP52 | GRCh38.p7 | 17:9602371 | tgaatgagaacatgc[A/G]gtgtttggttttctg | 146845 |
rs9902732 | snp | A/G | 0.148326 | 0.228391 | intron-variant | CFAP52 | GRCh38.p7 | 17:9601903 | TAGATACTTTTCCAC[A/G]TAGCAGATATTCTCA | 146845 |
rs9904304 | snp | C/T | 0.021333 | 0.101051 | intron-variant | CFAP52 | GRCh38.p7 | 17:9589727 | acaagagcgagactc[C/T]gtctcaaaaaaaaaa | 146845 |
rs9907091 | snp | C/T | 0.0146672 | 0.084371 | intron-variant | CFAP52 | GRCh38.p7 | 17:9592795 | ATTTCCACTTCTAAA[C/T]TATTATTAATAATGG | 146845 |
rs9907855 | snp | A/G | 0.112983 | 0.209108 | intron-variant | CFAP52 | GRCh38.p7 | 17:9602830 | acgtgagatggtatc[A/G]cattgcagttttgat | 146845 |
rs9909865 | snp | C/T | 0.125874 | 0.217008 | intron-variant | CFAP52 | GRCh38.p7 | 17:9602393 | ggttttctgttcctg[C/T]tttagtttgctgaga | 146845 |
rs9911158 | snp | C/T | 0.468949 | 0.12067 | intron-variant | CFAP52 | GRCh38.p7 | 17:9603509 | ccaccacacccggcc[C/T]TAAGTagatatttca | 146845 |
rs9911407 | snp | A/G | 0 | 0 | intron-variant | CFAP52 | GRCh38.p7 | 17:9596061 | TATATATGTGTGTGT[A/G]TATATATATATATAT | 146845 |
rs9911693 | snp | A/G | 0.0539704 | 0.155153 | intron-variant | CFAP52 | GRCh38.p7 | 17:9591258 | ggtcaggctggtctc[A/G]aactcccaacctcag | 146845 |
rs9913344 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | CFAP52 | GRCh38.p7 | 17:9591210 | GCCTGGCTAATTTTG[C/T]ATTTTTAGTAGAGAC | 146845 |
rs9913960 | snp | A/G | 0.0205511 | 0.0992634 | intron-variant | CFAP52 | GRCh38.p7 | 17:9591163 | ctgcctcagcctccc[A/G]aacagctgggattac | 146845 |
rs9914158 | snp | A/G | 0.0123036 | 0.0774623 | intron-variant | CFAP52 | GRCh38.p7 | 17:9591183 | GCTGGGATTACAGGC[A/G]TGCACCACCATGCCT | 146845 |
rs9916826 | snp | C/G | 0.482683 | 0.0914256 | intron-variant | CFAP52 | GRCh38.p7 | 17:9588597 | cttcagcatgggctg[C/G]acctggaccctggga | 146845 |
rs10548437 | in-del | -/AG | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9597804 | GGGACTCTGTCAGAA[-/AG]AGAGAGAGAGAGAGA | 146845 |
rs10656812 | in-del | -/A/AAAAAAAAA | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9636194 | AAAGAAAGAAAGAAA[-/A/AAAAAAAAA]GAAAGAAAGAAAGAA | 146845 |
rs10688020 | in-del | -/G | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9597830 | AGAGAGAGAGAGAGA[-/G]AAGAGAGAAAGAGAG | 146845 |
rs10699113 | in-del | -/TGTGTG/TGTGTGTG | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9596051 | GTATGTAGATATATA[-/TGTGTG/TGTGTGTG]TGTGTGTGTATATAT | 146845 |
rs11078808 | snp | A/G | 0.473451 | 0.112115 | intron-variant | CFAP52 | GRCh38.p7 | 17:9607215 | ACCAGGCATGATGGC[A/G]CATGCCTATAATCCC | 146845 |
rs11078809 | snp | A/G | 0.187053 | 0.241946 | intron-variant | CFAP52 | GRCh38.p7 | 17:9607282 | ACTTGGGAGGCAGAG[A/G]GTGCAGTGAGTTGAG | 146845 |
rs11281941 | in-del | -/A | | | intron-variant | CFAP52 | GRCh38.p7 | 17:9636191 | AAAAAAGAAAGAAAG[-/A]AAAGAAAGAAAGAAA | 146845 |
rs11296135 | in-del | -/A | 0 | 0 | intron-variant | CFAP52 | GRCh38.p7 | 17:9586585 | AAAAAAAAAAAAAAA[-/A]GAAAGAAAAAAGAAA | 146845 |