SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs166484 | snp | A/T | 0 | 0 | intron-variant | VHL | GRCh38.p7 | 3:10147997 | gagatcctaccacct[A/T]agcctcccaaatagc | 7428 |
rs187873 | snp | A/G | 0 | 0 | intron-variant | VHL | GRCh38.p7 | 3:10148011 | actcctgggttcaag[A/G]gatcctcccacctaa | 7428 |
rs187874 | snp | A/C | 0 | 0 | intron-variant | VHL | GRCh38.p7 | 3:10148004 | ggttcaagagatcct[A/C]ccacctaagcctccc | 7428 |
rs192374 | snp | C/T | 0 | 0 | intron-variant | VHL | GRCh38.p7 | 3:10148017 | cctcaaactcctggg[C/T]tcaagggatcctccc | 7428 |
rs271989 | snp | A/G | 0 | 0 | intron-variant | VHL | GRCh38.p7 | 3:10148464 | ggactacaggcgccc[A/G]ccactacgcccggct | 7428 |
rs271990 | snp | A/C | 0 | 0 | intron-variant | VHL | GRCh38.p7 | 3:10148475 | gcccaccactacgcc[A/C]ggctaattttttgta | 7428 |
rs271991 | snp | C/T | 0 | 0 | intron-variant | VHL | GRCh38.p7 | 3:10148504 | tatttttagtagaga[C/T]ggggtttcaccgttt | 7428 |
rs271992 | snp | A/G | 0 | 0 | intron-variant | VHL | GRCh38.p7 | 3:10148525 | ttcaccgttttagcc[A/G]ggatggtctcgatct | 7428 |
rs374645 | snp | A/G | 0.0916144 | 0.193427 | intron-variant | VHL | GRCh38.p7 | 3:10145487 | caatctcctgatctt[A/G]tgatccgcccgcctc | 7428 |
rs391818 | snp | C/G | 0 | 0 | synonymous-codon | VHL | GRCh38.p7 | 3:10141937 | TGAAGAAGACGGCGG[C/G]GAGGAGTCGGGCGCC | 7428 |
rs409141 | snp | C/G | 0 | 0 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10152937 | cacctgaggtcagga[C/G]ctgaagaccagcctg | 7428 |
rs417164 | snp | A/C/G | 0.000147373 | 0.00858282 | synonymous-codon | VHL | GRCh38.p7 | 3:10141961 | GGACTCTTCCGGGCC[A/C/G]GACTCCTCGGCGCCC | 7428 |
rs458106 | snp | A/G | 0.0236746 | 0.106192 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10151825 | ATCCCAGTACTTTGG[A/G]AAGCCAAGGTAAGAG | 7428 |
rs524411 | snp | A/G | 0.118235 | 0.212457 | intron-variant | VHL | GRCh38.p7 | 3:10143670 | gccaggatggtctcc[A/G]tctcctgcgctcgtg | 7428 |
rs689024 | snp | A/C | | | intron-variant | VHL | GRCh38.p7 | 3:10148077 | ttccagcccaggtga[A/C]agagtgagatcctgt | 7428 |
rs779803 | snp | A/G | 0.488965 | 0.0734569 | upstream-variant-2KB | VHL | GRCh38.p7 | 3:10140878 | gtgtgattgattacc[A/G]tatgacgcttttatt | 7428 |
rs779804 | snp | C/T | 0.214239 | 0.247429 | upstream-variant-2KB | VHL | GRCh38.p7 | 3:10141590 | CAAACCTTAGAGGGG[C/T]GAAAAAAAATTTTAT | 7428 |
rs779805 | snp | A/G | 0.496245 | 0.0431677 | utr-variant-5-prime | VHL | GRCh38.p7 | 3:10141653 | CGCCTCCGTTACAAC[A/G]GCCTACGGTGCTGGA | 7428 |
rs779806 | snp | A/G | 0.224116 | 0.248656 | intron-variant | VHL | GRCh38.p7 | 3:10142571 | GGCTGGTCTCGAACT[A/G]CTGACCTCGTGATCC | 7428 |
rs779807 | snp | A/T | 0.496245 | 0.0431677 | intron-variant | VHL | GRCh38.p7 | 3:10143272 | aggagcggggattac[A/T]ggcgtgcgccaccac | 7428 |
rs779808 | snp | C/T | 0.496245 | 0.0431677 | intron-variant | VHL | GRCh38.p7 | 3:10143337 | tttcgtcattttggc[C/T]aggctggtctcgaac | 7428 |
rs779809 | snp | A/G | 0.213635 | 0.247341 | intron-variant | VHL | GRCh38.p7 | 3:10143578 | tcagcctcccaagta[A/G]ctgggattacaggca | 7428 |
rs779811 | snp | A/T | 0.495782 | 0.0457324 | intron-variant | VHL | GRCh38.p7 | 3:10144830 | tttgttacatatgta[A/T]acatgtgccatgttg | 7428 |
rs779812 | snp | A/G | 0.213333 | 0.247296 | intron-variant | VHL | GRCh38.p7 | 3:10145330 | TGCTATATTTATTCT[A/G]AGACAACCTCCTCCT | 7428 |
rs779813 | snp | A/G | 0.213333 | 0.247296 | intron-variant | VHL | GRCh38.p7 | 3:10145428 | TGAAAATTCTGggcc[A/G]ggcgcagtggctcac | 7428 |
rs801913 | snp | C/G | 0.195837 | 0.244062 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10152940 | agccaggctggtctt[C/G]agctcctgacctcag | 7428 |
rs1058854 | snp | A/G | 0 | 0 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10151791 | AGAGTGACGGCTggc[A/G]tggtggctcccgcct | 7428 |
rs1058866 | snp | C/T | | | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10153466 | AAAAAAAACATGCCG[C/T]TTGAGTACTGTGTTT | 7428 |
rs1136245 | snp | A/G | 0 | 0 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10151143 | cctcagcctcccaaa[A/G]tggtgggattacagg | 7428 |
rs1136249 | snp | G/T | 0.495213 | 0.048687 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10151999 | ttaggaattggaggc[G/T]gcagtgagccatgag | 7428 |
rs1136250 | snp | A/G | 0 | 0 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10153378 | AGGTTGCAGTGAGCC[A/G]AGATCACACCATTGC | 7428 |
rs1136254 | snp | A/G | 0 | 0 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10152222 | AAAAATACAAGAATT[A/G]GCTGGGTGTGGTGGC | 7428 |
rs1136255 | snp | A/C | | | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10152290 | aggagaatcacttga[A/C]cccaggaggcgaaga | 7428 |
rs1642729 | snp | A/G | 0.213333 | 0.247296 | intron-variant | VHL | GRCh38.p7 | 3:10145693 | CCTGGGCGACAGAGC[A/G]AGACTGCATCTCAAA | 7428 |
rs1642739 | snp | G/T | 0.208779 | 0.246578 | downstream-variant-500B | VHL | GRCh38.p7 | 3:10153801 | ATCCAGGGTTGGAAA[G/T]AGAAGAGACTTGGAA | 7428 |
rs1642740 | snp | C/T | | | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10152549 | gcagagatcgcacca[C/T]tgcactccagcctgg | 7428 |
rs1642741 | snp | A/G | 0.209084 | 0.246629 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10151078 | AGCCTGGCCAACATG[A/G]CGAAACACTGTCTCT | 7428 |
rs1642742 | snp | C/T | 0.493477 | 0.0567349 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10150259 | ACTGAATTACTTATA[C/T]AAACCTCCTTACATA | 7428 |
rs1642743 | snp | A/G | 0.490673 | 0.0676508 | intron-variant | VHL | GRCh38.p7 | 3:10148783 | tgaagcaggagaatc[A/G]cttgaacccgagagg | 7428 |
rs1678593 | snp | A/T | 0.49614 | 0.0437598 | intron-variant | VHL | GRCh38.p7 | 3:10144763 | tataataaaaaattt[A/T]aaaaaaaTAAAAAAG | 7428 |
rs1678594 | snp | A/G/T | | | intron-variant | VHL | GRCh38.p7 | 3:10142362 | gactccgtctcaaaa[A/G/T]aaataaataaataaa | 7428 |
rs1678595 | snp | A/C | 0.420892 | 0.182472 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10153619 | AAACAGCTTTAAAAA[A/C]AAAAAAAAAAAAAAA | 7428 |
rs1678606 | snp | A/G | 0.21303 | 0.247251 | intron-variant | VHL | GRCh38.p7 | 3:10147114 | TGAGACAAGAGAATC[A/G]CTGGAACCCAGTAGG | 7428 |
rs1678607 | snp | A/C | 0.25634 | 0.24992 | intron-variant | VHL | GRCh38.p7 | 3:10146744 | CAAAAAGATTGGATA[A/C]CGTGCCTGACATCAG | 7428 |
rs1681660 | snp | C/T | 0.214541 | 0.247473 | intron-variant | VHL | GRCh38.p7 | 3:10148245 | ATTTGCCTTATAGAA[C/T]ACCCTCGAGTACGTT | 7428 |
rs1681668 | snp | A/G | 0.493568 | 0.0563433 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10151025 | AGCGTGGTGGCAGGC[A/G]CCTGTAATCCCAGCT | 7428 |
rs1681669 | snp | C/T | 0.485664 | 0.0834419 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10150988 | GAGGATTACGTGAAC[C/T]CAGGAGGCAGAGGTT | 7428 |
rs1703153 | snp | C/G | 0.49306 | 0.0584955 | intron-variant | VHL | GRCh38.p7 | 3:10149535 | cagtgtcgcttcatc[C/G]acattcagttagtta | 7428 |
rs1798965 | snp | A/T | 0 | 0 | intron-variant | VHL | GRCh38.p7 | 3:10142346 | TCAGAGCAttctttt[A/T]tttatttatttattt | 7428 |
rs1805159 | snp | C/G | | | synonymous-codon | VHL | GRCh38.p7 | 3:10142138 | CGGCGAGCCGCAGCC[C/G]TACCCAACGCTGCCG | 7428 |
rs2366325 | snp | A/T | | | intron-variant | VHL | GRCh38.p7 | 3:10142350 | AGCAttcttttattt[A/T]tttatttatttattt | 7428 |
rs2543458 | snp | G/T | 0.213937 | 0.247385 | | | GRCh38.p7 | 3:10145950 | AAAGGGCATGGGATT[G/T]AGAGCTTTAAGTACG | 7428 |
rs2600005 | snp | C/T | 0.405603 | 0.195673 | | | GRCh38.p7 | 3:10148977 | tatgaacaaataaaa[C/T]ggtgggctgggcgca | 7428 |
rs2600006 | snp | C/T | 0.459574 | 0.136304 | | | GRCh38.p7 | 3:10148893 | ctgagctcaagagtt[C/T]aagatcagcctggtc | 7428 |
rs2600015 | snp | C/G | | | | | GRCh38.p7 | 3:10152755 | cacctgtaatcccag[C/G]actttgggaggctga | 7428 |
rs2600016 | snp | A/G | | | | | GRCh38.p7 | 3:10152754 | acctgtaatcccagc[A/G]ctttgggaggctgag | 7428 |
rs2626573 | snp | A/G | | | intron-variant | VHL | GRCh38.p7 | 3:10143585 | tagtgcgtgcctgta[A/G]tcccagttacttggg | 7428 |
rs2930789 | snp | C/G | | | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10152739 | ttgtgatccacccac[C/G]tcagcctcccaaagt | 7428 |
rs3087462 | snp | C/T | 0.0554779 | 0.157039 | utr-variant-5-prime | VHL | GRCh38.p7 | 3:10141771 | AGGTCGACTCGGGAG[C/T]GCGCACGCAGCTCCG | 7428 |
rs4019643 | snp | A/T | | | intron-variant | VHL | GRCh38.p7 | 3:10142354 | ttcttttatttattt[A/T]tttatttattttgag | 7428 |
rs4019644 | snp | A/T | | | intron-variant | VHL | GRCh38.p7 | 3:10142358 | tttatttatttattt[A/T]tttattttgagacgg | 7428 |
rs5030648 | in-del | -/TCT | | | cds-indel | VHL | GRCh38.p7 | 3:10142074 | CCTCCCAGGTCATCT[-/TCT]GCAATCGCAGTCCGC | 7428 |
rs5030649 | in-del | -/T | 0 | 0 | frameshift-variant, intron-variant | VHL | GRCh38.p7 | 3:10146557 | GACACACGATGGGCT[-/T]CTGGTTAACYAAACT | 7428 |
rs5030650 | in-del | -/TG | | | frameshift-variant | VHL | GRCh38.p7 | 3:10149904 | AAGACCACCCAAATG[-/TG]CAGAAAGACCTGGAG | 7428 |
rs5030651 | in-del | -/C | 0 | 0 | frameshift-variant | VHL | GRCh38.p7 | 3:10142030 | CGGGCGGCCGCGGCC[-/C]GTGCTGCGCTCGGTG | 7428 |
rs5030802 | snp | A/G/T | 2.97748e-05 | 0.0038583 | VHL | 3 | allele_origin=G(germline)/A(germline) | 3:10142055 | TCGGTGAACTCGCGC[A/G/T]AGCCCTCCCAGGTCA | 7428 |
rs5030803 | snp | G/T | 0 | 0 | missense | VHL | GRCh38.p7 | 3:10142068 | GCGAGCCCTCCCAGG[G/T]CATCTTCTGCAATCG | 7428 |
rs5030804 | snp | A/G | 0 | 0 | missense | VHL | GRCh38.p7 | 3:10142080 | AGGTCATCTTCTGCA[A/G]TCGCAGTCCGCGCGT | 7428 |
rs5030805 | snp | A/G/T | 0 | 0 | missense | VHL | GRCh38.p7 | 3:10142086 | TCTTCTGCAATCGCA[A/G/T]TCCGCGCGTCGTGCT | 7428 |
rs5030807 | snp | A/C/T | 0 | 0 | VHL | 3 | allele_origin=T(germline)/A(germline)/C(germline) | 3:10142113 | TGCTGCCCGTATGGC[A/C/T]CAACTTCGACGGCGA | 7428 |
rs5030808 | snp | A/C/G | 0 | 0 | VHL | 3 | allele_origin=G(germline)/A(germline) | 3:10142124 | TGGCTCAACTTCGAC[A/C/G]GCGAGCCGCAGCCCT | 7428 |
rs5030809 | snp | C/T | 0 | 0 | VHL | 3 | allele_origin=T(germline)/C(germline) | 3:10142139 | GGCGAGCCGCAGCCC[C/T]ACCCAACGCTGCCGC | 7428 |
rs5030810 | snp | A/C/T | 2.19262e-05 | 0.00331099 | synonymous-codon, stop-gained | VHL | GRCh38.p7 | 3:10142184 | CGCATCCACAGCTAC[A/C/T]GAGGTACGGGCCCGG | 7428 |
rs5030811 | snp | C/T | 0 | 0 | missense, intron-variant | VHL | GRCh38.p7 | 3:10146516 | CTTGTCCCGATAGGT[C/T]RCCTTTGGCYCTTCA | 7428 |
rs5030813 | snp | C/T | 0 | 0 | stop-gained, intron-variant | VHL | GRCh38.p7 | 3:10146567 | GGGCTNCTGGTTAAC[C/T]AAACTGAATTATKTG | 7428 |
rs5030816 | snp | A/G/T | | | splice-acceptor-variant | VHL | GRCh38.p7 | 3:10149785 | GGTTTTTGCCCTTCC[A/G/T]GTGTATACTCTGAAA | 7428 |
rs5030817 | snp | A/G | | | splice-acceptor-variant | VHL | GRCh38.p7 | 3:10149786 | GTTTTTGCCCTTCCA[A/G]TGTATACTCTGAAAG | 7428 |
rs5030818 | snp | C/G/T | 0 | 0 | VHL | 3 | allele_origin=T(germline)/C(germline) | 3:10149804 | TATACTCTGAAAGAG[C/G/T]GATGCCTCCAGGTTG | 7428 |
rs5030819 | snp | C/T | 0 | 0 | stop-gained | VHL | GRCh38.p7 | 3:10149813 | AAAGAGCGATGCCTC[C/T]AGGTTGTCCGGAGCC | 7428 |
rs5030820 | snp | C/G/T | 1.65132e-05 | 0.00287339 | VHL | 3 | allele_origin=G(germline)/T(germline)/C(germline) | 3:10149822 | TGCCTCCAGGTTGTC[C/G/T]GGAGCCTAGTCAAGC | 7428 |
rs5030821 | snp | A/G | 0 | 0 | VHL | 3 | allele_origin=G(germline)/A(germline) | 3:10149823 | GCCTCCAGGTTGTCC[A/G]GAGCCTAGTCAAGCC | 7428 |
rs5030822 | snp | A/T | 0 | 0 | missense | VHL | GRCh38.p7 | 3:10149856 | AGAATTACAGGAGAC[A/T]GGACATCGTCAGGTC | 7428 |
rs5030823 | snp | A/C/T | 1.65244e-05 | 0.00287436 | VHL | 3 | allele_origin=A(somatic)/C(germline) | 3:10149871 | TGGACATCGTCAGGT[A/C/T]GCTCTACGAAGATCT | 7428 |
rs5030824 | snp | C/G | 3.30622e-05 | 0.00406571 | VHL | 3 | allele_origin=G(germline)/C(germline) | 3:10149885 | TCGCTCTACGAAGAT[C/G]TGGAAGACCACCCAA | 7428 |
rs5030825 | snp | C/T | 0 | 0 | stop-gained | VHL | GRCh38.p7 | 3:10149906 | GACCACCCAAATGTG[C/T]AGAAAGACCTGGAGC | 7428 |
rs5030826 | snp | A/C/G/T | 0 | 0 | VHL | 3 | allele_origin=G(germline)/T(germline)/C(germline) | 3:10142041 | GGCCCGTGCTGCGCT[A/C/G/T]GGTGAACTCGCGCGA | 7428 |
rs5030827 | snp | G/T | 0 | 0 | VHL | 3 | allele_origin=G(germline)/T(germline) | 3:10142097 | CGCAGTCCGCGCGTC[G/T]TGCTGCCCGTATGGC | 7428 |
rs5030828 | snp | C/T | 0 | 0 | VHL | 3 | allele_origin=T(germline)/C(somatic) | 3:10142101 | GTCCGCGCGTCGTGC[C/T]GCCCGTATGGCTCAA | 7428 |
rs5030829 | snp | A/G/T | 0 | 0 | VHL | 3 | allele_origin=G(germline)/A(germline) | 3:10142127 | CTCAACTTCGACGGC[A/G/T]AGCCGCAGCCCTACC | 7428 |
rs5030830 | snp | C/T | 0 | 0 | missense, intron-variant | VHL | GRCh38.p7 | 3:10146526 | TAGGTYRCCTTTGGC[C/T]CTTCAGAGRTGCAGG | 7428 |
rs5030832 | snp | A/G | 0 | 0 | missense, intron-variant | VHL | GRCh38.p7 | 3:10146535 | TTTGGCYCTTCAGAG[A/G]TGCAGGGACACACGA | 7428 |
rs5030833 | snp | C/G/T | 1.64727e-05 | 0.00286986 | missense, intron-variant | VHL | GRCh38.p7 | 3:10146580 | ACYAAACTGAATTAT[C/G/T]TGTGCCATCTCTCAA | 7428 |
rs5030834 | snp | C/T | 0.000922099 | 0.0214523 | VHL | 3 | allele_origin=T(germline)/C(germline) | 3:10146644 | ACTGCCAGGTACTGA[C/T]GTTTTACTTTTTAAA | 7428 |
rs5030835 | snp | C/G | 0 | 0 | VHL | 3 | allele_origin=G(germline)/C(germline) | 3:10149848 | CAAGCCTGAGAATTA[C/G]AGGAGACTGGACATC | 7428 |
rs7629500 | snp | A/G | 0.0520825 | 0.152737 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10150788 | GCATGTTTGATTATA[A/G]TATTAATGGACAAAT | 7428 |
rs7645730 | snp | A/T | 0 | 0 | intron-variant | VHL | GRCh38.p7 | 3:10147375 | tttttttttttttta[A/T]ttttatttttagaga | 7428 |
rs9819196 | snp | A/G | 0.140919 | 0.224948 | intron-variant | VHL | GRCh38.p7 | 3:10146200 | ttttttggagacgga[A/G]tcttgctctgtcacc | 7428 |
rs9822696 | snp | A/G | 0.00874735 | 0.0655527 | utr-variant-3-prime | VHL | GRCh38.p7 | 3:10151925 | ttaaaaattagcatg[A/G]cggcacacatctgta | 7428 |
rs9829048 | snp | G/T | 0.0554779 | 0.157039 | intron-variant | VHL | GRCh38.p7 | 3:10147645 | gctgggattacaggc[G/T]tgagccactgcgtcc | 7428 |
rs9829290 | snp | A/G | 0.222333 | 0.248464 | intron-variant | VHL | GRCh38.p7 | 3:10147809 | GACCAGCAGTGTGTG[A/G]TGGCTCCTGCCTGTA | 7428 |