SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs14650 | snp | C/T | 0 | 0 | utr-variant-3-prime | IFT80 | GRCh38.p7 | 3:160257115 | AATATAGGAAACACA[C/T]ACACAGTACAACTTG | 57560 |
rs188968 | snp | A/C | 0.00711735 | 0.0592285 | intron-variant | IFT80 | GRCh38.p7 | 3:160397168 | ATAGATTTTTACCCC[A/C]AAATGACTCCAGATT | 57560 |
rs869467 | snp | C/T | 0.420415 | 0.182917 | intron-variant | IFT80 | GRCh38.p7 | 3:160329518 | ACCTTCTTTCACCAC[C/T]CTCCAGAGGCAAGTC | 57560 |
rs869468 | snp | C/T | 0.493107 | 0.0583 | intron-variant | IFT80 | GRCh38.p7 | 3:160329652 | ttgctaaatttcccc[C/T]agtttattagcatta | 57560 |
rs949639 | snp | C/G | 0 | 0 | intron-variant | IFT80 | GRCh38.p7 | 3:160282881 | TATTCTGTAGGCTGA[C/G]AAACACTCGATCTGT | 57560 |
rs966322 | snp | A/G | | | intron-variant | IFT80 | GRCh38.p7 | 3:160368091 | tgaatgaatCATTAA[A/G]GAATTTACATTCTTA | 57560 |
rs991876 | snp | C/G | 0.0532157 | 0.154195 | intron-variant | IFT80 | GRCh38.p7 | 3:160371363 | AACATTAATCTCCAC[C/G]CTCTGGTCCACTCCC | 57560 |
rs1114198 | snp | G/T | | | intron-variant | IFT80 | GRCh38.p7 | 3:160374369 | CCGACTGGAGTACAG[G/T]GGCACCATCTTGGCT | 57560 |
rs1763563 | snp | C/T | 0.0178876 | 0.0928647 | intron-variant | IFT80 | GRCh38.p7 | 3:160275287 | GGAAGTTTTTTTTTA[C/T]AGAATTGATGTACTG | 57560 |
rs1763564 | snp | C/T | | | intron-variant | IFT80 | GRCh38.p7 | 3:160327725 | tgtaaaacacaaaac[C/T]ataaataccctagaa | 57560 |
rs1763565 | snp | A/G | | | intron-variant | IFT80 | GRCh38.p7 | 3:160327822 | gcaattgcaacaaaa[A/G]caaaaattgataaat | 57560 |
rs1763566 | snp | A/G | | | intron-variant | IFT80 | GRCh38.p7 | 3:160327859 | taattaaactaaaga[A/G]cttctgcatagcaaa | 57560 |
rs1796288 | snp | C/T | | | intron-variant | IFT80 | GRCh38.p7 | 3:160327857 | tgctatgcagaagct[C/T]tttagtttaattaga | 57560 |
rs1796289 | snp | A/T | | | intron-variant | IFT80 | GRCh38.p7 | 3:160327731 | gttttcttctagggt[A/T]tttatggttttgtgt | 57560 |
rs1873076 | snp | C/T | 0.294832 | 0.245947 | intron-variant | IFT80 | GRCh38.p7 | 3:160380749 | CCAATAAGAAAGCTG[C/T]GGTCAAATTATAAAA | 57560 |
rs1953506 | snp | C/G | 0.493107 | 0.0583 | intron-variant | IFT80 | GRCh38.p7 | 3:160318660 | CCCACTGCCACATCC[C/G]AACCTTCTTGTATTA | 57560 |
rs1953507 | snp | A/C | 0 | 0 | intron-variant | IFT80 | GRCh38.p7 | 3:160332138 | gttccatatttttgg[A/C]aagaaaacttcatag | 57560 |
rs1953510 | snp | A/C | 0.0437281 | 0.141251 | intron-variant | IFT80 | GRCh38.p7 | 3:160262876 | CAACCATAGCTTTCT[A/C]ACACTTTCCCTAAGA | 57560 |
rs1953511 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | IFT80 | GRCh38.p7 | 3:160267662 | AATCAGTTATGCTCT[A/G]GGCAATGGGGCAAAC | 57560 |
rs1959281 | snp | A/G | 0 | 0 | intron-variant | IFT80 | GRCh38.p7 | 3:160295055 | TAAATATTTTCCAAA[A/G]ATAATCAAGAGTTGA | 57560 |
rs1999732 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | IFT80 | GRCh38.p7 | 3:160289853 | taggcaaaatggaca[C/G]ggggtggagaggaga | 57560 |
rs2095528 | snp | C/G | 0.00636936 | 0.0560724 | intron-variant | IFT80 | GRCh38.p7 | 3:160285982 | TCTCTAGACCACAGA[C/G]AGAGCAGCAGCATCC | 57560 |
rs2095529 | snp | A/G | 0.29432 | 0.24604 | intron-variant | IFT80 | GRCh38.p7 | 3:160333036 | TAGACTATATGGTAT[A/G]GCCTATTGCTCCTAG | 57560 |
rs2152424 | snp | C/T | 0.259397 | 0.249823 | intron-variant | IFT80 | GRCh38.p7 | 3:160288563 | AGACAACCTACAGAA[C/T]AGGAGAAAATTTCTG | 57560 |
rs2152425 | snp | A/G | 0.499631 | 0.0135733 | intron-variant | IFT80 | GRCh38.p7 | 3:160320116 | ACAGATGTAATTGTT[A/G]AAGTCCACAGTAGAA | 57560 |
rs2178746 | snp | A/G | 0.0685596 | 0.171987 | intron-variant | IFT80 | GRCh38.p7 | 3:160273682 | TTCAATTCTCCAACT[A/G]CCTACTTAACATTTC | 57560 |
rs2275150 | snp | A/G | 0.16911 | 0.236552 | intron-variant | IFT80 | GRCh38.p7 | 3:160285660 | ACTGTGACATCTTTA[A/G]GCAAAATAGTCAATG | 57560 |
rs2275151 | snp | C/T | 0.367786 | 0.220514 | intron-variant | IFT80 | GRCh38.p7 | 3:160285889 | AAAAAAGTAGAACAT[C/T]AATTAATGTGTTATA | 57560 |
rs2275152 | snp | C/T | 3.30836e-05 | 0.00406702 | splice-donor-variant | IFT80 | GRCh38.p7 | 3:160307662 | AATGCAAGATGCTTA[C/T]GAGAACACGTAACAT | 57560 |
rs2275153 | snp | A/G | 0.0766824 | 0.180169 | intron-variant | IFT80 | GRCh38.p7 | 3:160307844 | ATTTTATTTAGATAA[A/G]TTAGCAAGATTTTGA | 57560 |
rs2886772 | snp | A/G | 0.0777841 | 0.181223 | intron-variant | IFT80 | GRCh38.p7 | 3:160302991 | ATGTTCCCTTGCCAG[A/G]CAGCTACTTTCCTTC | 57560 |
rs2886774 | snp | C/T | 0.421209 | 0.182174 | intron-variant | IFT80 | GRCh38.p7 | 3:160361086 | ACACAGACTGGCAAA[C/T]TGGATGAAGAATCAA | 57560 |
rs3043631 | in-del | -/GGGA | 0 | 0 | intron-variant | IFT80 | GRCh38.p7 | 3:160315090 | ggagggagggaggga[-/GGGA]aaaagagagagagaa | 57560 |
rs3737214 | snp | A/G | 0.289897 | 0.246796 | intron-variant | IFT80 | GRCh38.p7 | 3:160277568 | TACATATATGTAAAC[A/G]TTAATTACTTACTTC | 57560 |
rs4274790 | snp | C/T | 0.0759472 | 0.179459 | intron-variant | IFT80 | GRCh38.p7 | 3:160324308 | tcctaataccgaagc[C/T]gggtggagacacaac | 57560 |
rs4616688 | snp | G/T | 0.49306 | 0.0584955 | intron-variant | IFT80 | GRCh38.p7 | 3:160324671 | aacccacagctaata[G/T]catactgaatgggca | 57560 |
rs4679879 | snp | A/T | 0.385932 | 0.209815 | intron-variant | IFT80 | GRCh38.p7 | 3:160275647 | GACCATTACCTTAAA[A/T]TTTTTTTTGTTAAAT | 57560 |
rs4679880 | snp | C/T | 0.385932 | 0.209815 | intron-variant | IFT80 | GRCh38.p7 | 3:160275702 | CAAGAGTAGTGTCTA[C/T]GATTTCAACATATTT | 57560 |
rs4679881 | snp | C/T | 0.493107 | 0.0583 | intron-variant | IFT80 | GRCh38.p7 | 3:160310226 | AAACATCTTGTCACA[C/T]CAGAAAGCAACGAAG | 57560 |
rs4680576 | snp | A/G | 0.499792 | 0.0101932 | intron-variant | IFT80 | GRCh38.p7 | 3:160303893 | TTAACCCCAGATCCA[A/G]TAGTTAAACATAATA | 57560 |
rs4680577 | snp | C/T | 0.199564 | 0.24486 | intron-variant | IFT80 | GRCh38.p7 | 3:160335744 | ATATTCAAAGTTGTG[C/T]AACAATCACCACTAT | 57560 |
rs4680579 | snp | A/G | 0.49306 | 0.0584955 | intron-variant | IFT80 | GRCh38.p7 | 3:160391869 | TTGCATCGTATTTAA[A/G]TTACTGTCATCAACA | 57560 |
rs4680580 | snp | C/T | 0.493013 | 0.058691 | intron-variant | IFT80 | GRCh38.p7 | 3:160397216 | GGCACTTCTCACTTA[C/T]TGTTATATAGTAACA | 57560 |
rs6441307 | snp | A/G | 0.079617 | 0.182947 | intron-variant | IFT80 | GRCh38.p7 | 3:160293124 | aataagtaaaatatt[A/G]cattaatgcttcaaa | 57560 |
rs6441309 | snp | C/G | 0.0333695 | 0.124785 | intron-variant | IFT80 | GRCh38.p7 | 3:160311017 | gtggtcccagctact[C/G]gggaggctgaaatgg | 57560 |
rs6441310 | snp | A/C | 0.0803491 | 0.183626 | intron-variant | IFT80 | GRCh38.p7 | 3:160311134 | tgtcttgaaaaaata[A/C]atacataaataagta | 57560 |
rs6441311 | snp | G/T | 0.29432 | 0.24604 | intron-variant | IFT80 | GRCh38.p7 | 3:160318161 | ATTACTGGGGCTGGG[G/T]GATGAGTACATGGGG | 57560 |
rs6441312 | snp | A/G | 0.040671 | 0.13668 | intron-variant | IFT80 | GRCh38.p7 | 3:160318449 | AATAAGAGGAAGGTC[A/G]AATCCTTCTTTTTGA | 57560 |
rs6441313 | snp | A/G | 0.49306 | 0.0584955 | intron-variant | IFT80 | GRCh38.p7 | 3:160318612 | TGCCCTCCCACTGAT[A/G]TCCTTTGACCTGTAA | 57560 |
rs6441314 | snp | A/G | 0.494272 | 0.053207 | intron-variant | IFT80 | GRCh38.p7 | 3:160343357 | CACCACCTGCTGATA[A/G]ATAAAAGCAACAATG | 57560 |
rs6441315 | snp | A/T | 0.421051 | 0.182323 | intron-variant | IFT80 | GRCh38.p7 | 3:160353119 | CTAATAAACTATGAT[A/T]CCTCACCTTTGTTTA | 57560 |
rs6764107 | snp | A/T | 0.0792508 | 0.182605 | intron-variant | IFT80 | GRCh38.p7 | 3:160375497 | ACCTCCAATTCTATA[A/T]AAGATATGCTTCAAA | 57560 |
rs6764227 | snp | A/G | 0.0980852 | 0.198549 | intron-variant | IFT80 | GRCh38.p7 | 3:160294280 | ctgtggtgcagtggc[A/G]tgatctcagctcact | 57560 |
rs6764829 | snp | C/T | 0.077417 | 0.180873 | intron-variant | IFT80 | GRCh38.p7 | 3:160275119 | gttgctgagataacc[C/T]aacgacatgatatat | 57560 |
rs6767044 | snp | C/G | 0.00636936 | 0.0560724 | intron-variant | IFT80 | GRCh38.p7 | 3:160389917 | ccacactgacttcca[C/G]aagggttgaactagt | 57560 |
rs6767102 | snp | A/T | 0.106278 | 0.204558 | intron-variant | IFT80 | GRCh38.p7 | 3:160267353 | AGAACATTCCATTTT[A/T]TTCTACACCAAGAAG | 57560 |
rs6768295 | snp | C/T | 0.0279526 | 0.114869 | intron-variant | IFT80 | GRCh38.p7 | 3:160290136 | aaGTCCTAATGGGGC[C/T]Gggctcacacctgta | 57560 |
rs6772987 | snp | C/T | 0.0792508 | 0.182605 | intron-variant | IFT80 | GRCh38.p7 | 3:160387970 | attttagagccagta[C/T]agatattggtaatga | 57560 |
rs6776582 | snp | G/T | 0.151334 | 0.229706 | intron-variant | IFT80 | GRCh38.p7 | 3:160354232 | GATGATCTAACATCC[G/T]GATGTTGTAATTGAG | 57560 |
rs6778728 | snp | A/T | 0.355404 | 0.226694 | missense | IFT80 | GRCh38.p7 | 3:160279273 | TAGCAGGATATGGTG[A/T]TATGCTGATGTGAAC | 57560 |
rs6785819 | snp | A/G | | | intron-variant | IFT80 | GRCh38.p7 | 3:160318272 | GAAAAAGTATAATAT[A/G]CCGAATTATTAGTAA | 57560 |
rs6786414 | snp | C/G | 0 | 0 | intron-variant | IFT80 | GRCh38.p7 | 3:160365796 | ccaagtagctaactc[C/G]aaagcctgtgttctt | 57560 |
rs6787795 | snp | A/G | 0.0952156 | 0.196321 | intron-variant | IFT80 | GRCh38.p7 | 3:160265941 | ATTATAGACTTAAAT[A/G]AAACCAAAAGGTCAG | 57560 |
rs6788162 | snp | A/C | | | intron-variant | IFT80 | GRCh38.p7 | 3:160389256 | ctaaatagatctcat[A/C]ATGATTTTCAGTCAT | 57560 |
rs6790951 | snp | C/T | 0.424659 | 0.17887 | intron-variant | IFT80 | GRCh38.p7 | 3:160307499 | TCTATTTTCACTGCT[C/T]TAAGTTCACTTTCTC | 57560 |
rs6791056 | snp | A/G | 0.424659 | 0.17887 | intron-variant | IFT80 | GRCh38.p7 | 3:160307450 | CATTGCGCCTCGCTT[A/G]TCTATTAACTGTTGA | 57560 |
rs6791261 | snp | C/T | 0.493107 | 0.0583 | intron-variant | IFT80 | GRCh38.p7 | 3:160298658 | CTTGCTCAATGATGG[C/T]GATATGTTCTGAGAA | 57560 |
rs6791567 | snp | C/T | 0.12932 | 0.218944 | intron-variant | IFT80 | GRCh38.p7 | 3:160267219 | TAGATCAAGACACTA[C/T]GTATTCTAAATACAA | 57560 |
rs6792612 | snp | C/T | 0.492287 | 0.0616198 | intron-variant | IFT80 | GRCh38.p7 | 3:160342960 | TCCAAAGCAATCTTC[C/T]TGCTAAGGCCACTGG | 57560 |
rs6792810 | snp | C/T | 0.0283406 | 0.115616 | intron-variant | IFT80 | GRCh38.p7 | 3:160343150 | GAAAAAAAATAGATG[C/T]AAAGTTTCTTACATT | 57560 |
rs6793560 | snp | A/T | 0.49306 | 0.0584955 | intron-variant | IFT80 | GRCh38.p7 | 3:160395681 | AGCAAGGGGAGAGCC[A/T]AAAGGTGCTAGAGGC | 57560 |
rs6793718 | snp | C/T | 0.0333695 | 0.124785 | intron-variant | IFT80 | GRCh38.p7 | 3:160273051 | tccttacccatctca[C/T]ggataccaagcgaTT | 57560 |
rs6798183 | snp | A/G | 0.419296 | 0.183954 | intron-variant | IFT80 | GRCh38.p7 | 3:160356979 | AATTGATCAATATTT[A/G]GTAAACCAGCAGGGT | 57560 |
rs6803828 | snp | C/G | 0.493107 | 0.0583 | intron-variant | IFT80 | GRCh38.p7 | 3:160340774 | tccaggatagtttta[C/G]catctgaaggtccct | 57560 |
rs6808628 | snp | C/T | 0.168135 | 0.236216 | intron-variant | IFT80 | GRCh38.p7 | 3:160272560 | TTCATCccttctgat[C/T]tctattgctaaattc | 57560 |
rs6809153 | snp | C/T | 0.420415 | 0.182917 | intron-variant | IFT80 | GRCh38.p7 | 3:160353630 | GGAGAACTACTAATT[C/T]TTCAAGGCTCTGCTC | 57560 |
rs6809313 | snp | C/T | 0.492484 | 0.0608394 | intron-variant | IFT80 | GRCh38.p7 | 3:160347780 | TGCACTTTAGGTATA[C/T]AGAATAATAACCAAT | 57560 |
rs7355951 | snp | C/G | 0.420415 | 0.182917 | intron-variant | IFT80 | GRCh38.p7 | 3:160360155 | acagcgtagagaaga[C/G]cttaaatgacctgat | 57560 |
rs7356111 | snp | A/G | 0.49962 | 0.0137727 | intron-variant | IFT80 | GRCh38.p7 | 3:160360058 | ataacaaacttcccc[A/G]agctaaaggagcatg | 57560 |
rs7426572 | snp | A/G | 0.00318978 | 0.0398085 | intron-variant | IFT80 | GRCh38.p7 | 3:160306586 | TGCTCTCATGTAAGG[A/G]AAAAAAAAAACTCAC | 57560 |
rs7428457 | snp | A/T | | | intron-variant | IFT80 | GRCh38.p7 | 3:160374724 | AAAATCTATGAAGCC[A/T]AAAGTAAATCCATCT | 57560 |
rs7432398 | snp | A/C | 0.0115603 | 0.0751433 | intron-variant | IFT80 | GRCh38.p7 | 3:160374723 | AAAAATCTATGAAGC[A/C]AAAAGTAAATCCATC | 57560 |
rs7611130 | snp | C/T | 0.494143 | 0.0537956 | intron-variant | IFT80 | GRCh38.p7 | 3:160388993 | tcaacaccttgatat[C/T]aacataacccaagtc | 57560 |
rs7614701 | snp | C/T | 0.229136 | 0.249128 | intron-variant | IFT80 | GRCh38.p7 | 3:160355603 | ACTATTAATTTCTTA[C/T]GCAAAATATGCAATC | 57560 |
rs7616244 | snp | A/G | 0.029116 | 0.117091 | intron-variant | IFT80 | GRCh38.p7 | 3:160273222 | TTGCTGAATATTTGC[A/G]GTCCTTTCTTATCCA | 57560 |
rs7618017 | snp | C/T | 0.14933 | 0.228835 | intron-variant | IFT80 | GRCh38.p7 | 3:160380975 | catggtggctcatac[C/T]tgtaatcccagcact | 57560 |
rs7620828 | snp | C/T | 0.424659 | 0.17887 | intron-variant | IFT80 | GRCh38.p7 | 3:160318288 | CCGAATTATTAGTAA[C/T]CTAGTGACAATATTA | 57560 |
rs7624902 | snp | A/G | 0.495291 | 0.0482933 | intron-variant | IFT80 | GRCh38.p7 | 3:160286238 | gtcctttgaaggtta[A/G]ctgaaaatcaactca | 57560 |
rs7627555 | snp | A/G | 0.420415 | 0.182917 | intron-variant | IFT80 | GRCh38.p7 | 3:160316786 | CTGGAATTACTAGGG[A/G]AAAAAAAGCACTCTT | 57560 |
rs7628815 | snp | C/T | 0.0283406 | 0.115616 | intron-variant | IFT80 | GRCh38.p7 | 3:160390798 | ATATCATCAACCTAC[C/T]GGCCCAATCTGGATT | 57560 |
rs7630270 | snp | G/T | 0.0402882 | 0.136092 | intron-variant | IFT80 | GRCh38.p7 | 3:160321388 | TAGGCTTATGGCATC[G/T]CTCTCTCTCTTTCTA | 57560 |
rs7635305 | snp | C/T | 0.0803491 | 0.183626 | intron-variant | IFT80 | GRCh38.p7 | 3:160358156 | gggactacagggaca[C/T]gccaccacacccagc | 57560 |
rs7645417 | snp | A/T | | | intron-variant | IFT80 | GRCh38.p7 | 3:160357900 | TAACACTGAATGAAT[A/T]TGTTATGTATTCCAA | 57560 |
rs9637414 | snp | C/G | 0.102928 | 0.202163 | intron-variant | IFT80 | GRCh38.p7 | 3:160300854 | ACAAATTTCATATTT[C/G]ACAGGAAAAATTATA | 57560 |
rs9798898 | snp | A/G | 0.493293 | 0.0575177 | intron-variant | IFT80 | GRCh38.p7 | 3:160364366 | caacagtgctggaga[A/G]gatatggagaaacag | 57560 |
rs9799314 | snp | C/T | 0.493293 | 0.0575177 | intron-variant | IFT80 | GRCh38.p7 | 3:160364283 | gtcatcagagaaatg[C/T]aaatcaaaaccacaa | 57560 |
rs9824930 | snp | A/G | 0 | 0 | upstream-variant-2KB, intron-variant | SMC4, IFT80 | GRCh38.p7 | 3:160398918 | CGCTATTCACATGTC[A/G]ACTAAGCTATCACGA | 57560 |
rs9833219 | snp | A/C | | | intron-variant | IFT80 | GRCh38.p7 | 3:160287841 | AGTCTCAGGGCCCCT[A/C]CTGAAGGAATGAATG | 57560 |
rs9840063 | snp | C/G | | | intron-variant | IFT80 | GRCh38.p7 | 3:160285989 | ACCACAGAGAGAGCA[C/G]CAGCATCCAATTTTA | 57560 |
rs9843737 | snp | C/T | 0.0777841 | 0.181223 | upstream-variant-2KB, intron-variant | SMC4, IFT80 | GRCh38.p7 | 3:160398386 | ATGCCAGACCCTAAG[C/T]AAGCAAAAGTTAAAG | 57560 |