AUP1
SNP - dbSNP
dbSNPTypeAllelesHetSe(het)Fxn-classGene NameAssemblyChr-posSequenceEntrez Gene
rs13279snpA/G00upstream-variant-2KB, missense, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74528463GTAAGAGGTTGTACC[A/G]CATCTTGGATAGAAA550
rs1183739snpC/G0.2586620.24985utr-variant-5-prime, synonymous-codon, nc-transcript-variant, missenseHTRA2, AUP1GRCh38.p72:74529421CCTCGTCCTGCGCCT[C/G]TTTCTCGGGATCCAC550
rs2231247snpC/T0.03205870.122481intron-variant, upstream-variant-2KBHTRA2, AUP1GRCh38.p72:74530562CCCCTCCTACCCGCC[C/T]GCCCTCCAGCCTGTG550
rs2231248snpC/G0.009055040.0666748synonymous-codon, upstream-variant-2KB, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74530486CTCGATATAGACCAC[C/G]GCAGGTGCTGTCTTC550
rs2231249snpA/Gmissense, upstream-variant-2KB, nc-transcript-variant, intron-variantHTRA2, AUP1GRCh38.p72:74530014CGCCCCGCCCTCGGC[A/G]CAGCCATCAGCTCCG550
rs2231250snpC/G0.4016820.198727upstream-variant-2KB, intron-variant, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74529049CCCCACTCGCGTTCC[C/G]CATGGAGGATACTGA550
rs2241027snpA/G0.08590630.188609intron-variant, upstream-variant-2KBHTRA2, AUP1GRCh38.p72:74531539GGTACTTTTGTTCGG[A/G]TGCCCCCATCCCCTA550
rs2241028snpA/G0.1160820.211107downstream-variant-500B, intron-variant, upstream-variant-2KBLOXL3, HTRA2, AUP1GRCh38.p72:74531807TGGGAGAAGAGGGCA[A/G]GGAAGGAAGGATGTA550
rs3835033in-del-/A00upstream-variant-2KB, intron-variant, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74528985AAATGAAAAAAAAAA[-/A]CTGACATGTTGGGTA550
rs10779958snpA/C0.4999870.00259581upstream-variant-2KB, intron-variantHTRA2, AUP1GRCh38.p72:74528651AAGGAAATGAACTGG[A/C]GATGATGGGGTCTAA550
rs11538692snpC/T0.01515060.0857075missense, intron-variant, upstream-variant-2KB, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74531040AGCTCTGCTCAGCGT[C/T]CAGCCAGAGACCTGG550
rs11539609snpC/Gupstream-variant-2KB, missense, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74529242GTGCTAGGGCTCGTG[C/G]CCCGGCAGGAGGACT550
rs11539610snpA/G5.4538e-050.00522169upstream-variant-2KB, utr-variant-3-prime, nc-transcript-variantDQX1, AUP1GRCh38.p72:74526770CAGTCTCCGTCCTGC[A/G]GCTCTGGGTGCCATC550
rs34220647in-del-/Cutr-variant-5-prime, nc-transcript-variant, upstream-variant-2KBHTRA2, AUP1GRCh38.p72:74529887CGGAATCCTGGTCCC[-/C]GGCGTGCACTTCTGA550
rs34239071in-del-/Gintron-variant, upstream-variant-2KBHTRA2, AUP1GRCh38.p72:74531307ACTTAGAATCCCCAG[-/G]ATCTCTTTCATGTTT550
rs35506035in-del-/Cdownstream-variant-500B, intron-variant, upstream-variant-2KBLOXL3, HTRA2, AUP1GRCh38.p72:74531776TTCAGTGGGACTTCC[-/C]TGGAGGGTGGTCTAC550
rs41285993snpA/G3.34543e-050.00408975upstream-variant-2KB, intron-variant, nc-transcript-variantDQX1, AUP1GRCh38.p72:74527074ACTGAGGTGATCACA[A/G]TGTCAGAGGGCTTGC550
rs71640289snpC/Gupstream-variant-2KB, intron-variant, missenseHTRA2, AUP1GRCh38.p72:74529319ACTGTGTGGCCTCGG[C/G]CCAGACCCAGCTCTG550
rs71640290snpA/G/T0.0001708930.00924215upstream-variant-2KB, intron-variant, missense, synonymous-codonHTRA2, AUP1GRCh38.p72:74529329CTCGGGCCAGACCCA[A/G/T]CTCTGACACTCCCCG550
rs71640291snpA/G0.0002333060.0107981utr-variant-5-prime, synonymous-codon, nc-transcript-variant, missenseHTRA2, AUP1GRCh38.p72:74529409GACCAGGAAGACGTG[A/G]ATCCCGAGAAAGAGG550
rs71640292snpA/G0.006978970.0586581intron-variant, upstream-variant-2KBHTRA2, AUP1GRCh38.p72:74530877TTTGCTCGCATCTTC[A/G]GATGACAGGTCTCTT550
rs72470544snpG/T0.05178530.152351 HTRA2, AUP12 allele_origin=G(germline)/T(germline)2:74530427CCTAGCCCGCCGCCC[G/T]CTTCTCCCCGGAGTC550
rs72907273snpA/G0.04449080.142359intron-variant, upstream-variant-2KBHTRA2, AUP1GRCh38.p72:74531181CAAGCACCAACTGAT[A/G]TATGGTGGATGAGCC550
rs73949680snpA/G0.01398260.0824364upstream-variant-2KB, intron-variant, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74529115CCCGTGGCGCTCTCG[A/G]CCTCGCTCTCACTCA550
rs74372431snpC/G/T0.002584470.0358551upstream-variant-2KB, missense, nc-transcript-variantHTRA2, DQX1, AUP1GRCh38.p72:74527775GTCTTTGTCGCTTCA[C/G/T]GTGCTCTGCTTTGTC550
rs74724435snpA/Gupstream-variant-2KB, stop-gained, nc-transcript-variantHTRA2, DQX1, AUP1GRCh38.p72:74527817GCCGTGTCCCTGTCT[A/G]GCCCAATTCCTTGGC550
rs74973842snpA/G0.005357410.0514782upstream-variant-2KB, intron-variant, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74529023TAGAGGATCGGGGTT[A/G]GGGGTAAGGCTCAGT550
rs75060955snpC/G0.0003992810.0141238upstream-variant-2KB, intron-variantHTRA2, AUP1GRCh38.p72:74528339GAGGGGAGGGCATGA[C/G]ATGAGGCCTAAGCCA550
rs76602278snpA/Gupstream-variant-2KB, intron-variant, missenseHTRA2, AUP1GRCh38.p72:74529352ACTCCCCGAACGCCC[A/G]CGTCGGAACCTGCGA550
rs79846504snpA/C0.01584690.0875917upstream-variant-2KB, intron-variant, downstream-variant-500BDQX1, AUP1GRCh38.p72:74526642GAGACCGAGAGAGAC[A/C]ACAGATGCCTTGAAT550
rs111333202snpA/C/G/T3.33011e-050.00408038upstream-variant-2KB, intron-variant, nc-transcript-variantDQX1, AUP1GRCh38.p72:74527062CAGAGCTGGGAAACT[A/C/G/T]AGGTGATCACAATGT550
rs112323924snpC/Gupstream-variant-2KB, splice-donor-variantHTRA2, DQX1, AUP1GRCh38.p72:74527735TATAGAGACCACATA[C/G]CTGACTGGGGGCGCA550
rs113204169snpA/Gupstream-variant-2KB, splice-donor-variantHTRA2, DQX1, AUP1GRCh38.p72:74527734GTATAGAGACCACAT[A/G]CCTGACTGGGGGCGC550
rs113870495snpC/G00upstream-variant-2KB, splice-donor-variant, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74529131CCTCGCTCTCACTCA[C/G]GGTGCTACAGGTGGT550
rs115467431snpC/T0.0100690.070236upstream-variant-2KB, missense, nc-transcript-variant, synonymous-codonHTRA2, AUP1GRCh38.p72:74529387CGCTGTCTGGCAGCG[C/T]GCAGCTGACCAGGAA550
rs115791197snpA/G0.00359740.0422582upstream-variant-2KB, synonymous-codon, nc-transcript-variantDQX1, AUP1GRCh38.p72:74527254GGGTCTCACCTTGGA[A/G]GCAGAGGCTGTGGGT550
rs116244977snpC/G/T0.002489860.035196intron-variant, upstream-variant-2KBHTRA2, AUP1GRCh38.p72:74531426GGTCAGTGTGGGAAG[C/G/T]GTAGGTTTCCCCTAA550
rs138752223snpC/T0.00109740.0233987upstream-variant-2KB, missense, nc-transcript-variantHTRA2, DQX1, AUP1GRCh38.p72:74527747ATACCTGACTGGGGG[C/T]GCAATCTGGGGTGTC550
rs138971069snpC/T3.29843e-050.00406092stop-gained, upstream-variant-2KB, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74531672CCTTCTGATCGTCTT[C/T]GAGAGTTTCTGCATC550
rs139159726snpA/G0.0001834480.00957551upstream-variant-2KB, intron-variantHTRA2, DQX1, AUP1GRCh38.p72:74528205TTCCTTGACCTTGAG[A/G]TGAGCCTCTCCCCAG550
rs141616747snpC/T0.001197370.0244387utr-variant-5-prime, intron-variant, downstream-variant-500B, upstream-variant-2KBDQX1, AUP1GRCh38.p72:74526181GCAGTCAGCTCCAGA[C/T]CCACGTAGTCACCAC550
rs141864406snpC/G0.001175370.0242137upstream-variant-2KB, intron-variantHTRA2, DQX1, AUP1GRCh38.p72:74528053GGCACCCAGGGTAGA[C/G]GCTGTCACCATTCCC550
rs142306682snpA/G1.64798e-050.00287047missense, intron-variant, upstream-variant-2KB, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74530947CTGGGACGCTCAGCT[A/G]ATGTCCGGCAAGGGG550
rs142590278snpC/T0.00239330.0345097utr-variant-5-prime, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74529759AAGTCCTGAGGCGCG[C/T]CGGAAGGGCTAGCGG550
rs144725152snpA/C0.0001738340.00932132upstream-variant-2KB, intron-variantHTRA2, AUP1GRCh38.p72:74528527GGATGGGAATCCAGC[A/C]AGCCTAGTCAGCAGC550
rs145348894snpC/T0.001165220.0241092upstream-variant-2KB, intron-variant, synonymous-codonHTRA2, AUP1GRCh38.p72:74529330TCGGGCCAGACCCAG[C/T]TCTGACACTCCCCGA550
rs145919462in-del-/TGGCGCTframeshift-variant, upstream-variant-2KB, nc-transcript-variant, intron-variantHTRA2, AUP1GRCh38.p72:74530332GCGCGTGGCTGGCGG[-/TGGCGCT]GGGCGCTGGGGGGGC550
rs145946172snpA/G0.0002789940.0118076missense, upstream-variant-2KB, nc-transcript-variant, intron-variantHTRA2, AUP1GRCh38.p72:74530083GGGGCATTCGCTGGG[A/G]GAGGAGACCCCGTTT550
rs145952699snpA/G0.004383320.0466095utr-variant-5-prime, intron-variant, downstream-variant-500B, upstream-variant-2KBDQX1, AUP1GRCh38.p72:74526225GTGAAGTACAAAGGT[A/G]AATTCCGGCTCTACC550
rs146230226snpA/G0.0003992810.0141238upstream-variant-2KB, intron-variantHTRA2, DQX1, AUP1GRCh38.p72:74528098TTTGCATGGTGGGTG[A/G]GAAAATAGTAAATAC550
rs146380692snpC/T0.0007890220.0198466missense, upstream-variant-2KB, nc-transcript-variant, intron-variantHTRA2, AUP1GRCh38.p72:74530208GTTGGGGTCACTGAA[C/T]CCCGAGCATGCCTGA550
rs147035021snpA/G0.0002638350.0114825missense, upstream-variant-2KB, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74531667CCATCCCTTCTGATC[A/G]TCTTCGAGAGTTTCT550
rs148541618snpA/C1.73733e-050.00294726upstream-variant-2KB, intron-variant, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74529033GGGTTAGGGGTAAGG[A/C]TCAGTATCCTCCATG550
rs149169879snpA/G0.001202570.0244916synonymous-codon, upstream-variant-2KB, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74530737CAGAGTCCGTGTGAG[A/G]CTGCTAAGCGGCGAC550
rs150047108snpC/T0.005370170.0515388missense, upstream-variant-2KB, nc-transcript-variant, intron-variantHTRA2, AUP1GRCh38.p72:74530221AACCCCGAGCATGCC[C/T]GACGTCTGGGACCCC550
rs151291127snpA/C/T0.001169170.0241508intron-variant, upstream-variant-2KBHTRA2, AUP1GRCh38.p72:74530608ATCTGTGCTTTCCCT[A/C/T]CATTTCAGGCACCCT550
rs180981125snpA/C/T0.0005676220.0168376upstream-variant-2KB, intron-variant, synonymous-codonHTRA2, AUP1GRCh38.p72:74529327GCCTCGGGCCAGACC[A/C/T]AGCTCTGACACTCCC550
rs181330058snpC/T9.96595e-050.00705832upstream-variant-2KB, synonymous-codon, nc-transcript-variantDQX1, AUP1GRCh38.p72:74527042TGGCTGAGGGGTCAC[C/T]GGGCCAGAGCTGGGA550
rs181957383snpA/G0.0001929740.00982088upstream-variant-2KB, intron-variantDQX1, AUP1GRCh38.p72:74526875TATTCAGGCTTTGCC[A/G]TAGTAGCTCCATAAT550
rs183216401snpC/T1.66746e-050.00288739synonymous-codon, upstream-variant-2KB, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74530623CCATTTCAGGCACCC[C/T]TTCTTGGGCCGCGAG550
rs184200786snpC/T0.0007984030.0199641upstream-variant-2KB, intron-variant, downstream-variant-500BDQX1, AUP1GRCh38.p72:74526580GAGAAGACTCTCACC[C/T]CCATCCCCCGCAGCC550
rs184356102snpC/T0.0003992810.0141238upstream-variant-2KB, intron-variantDQX1, AUP1GRCh38.p72:74526936TTGTCCTCTAACCCC[C/T]TCACCTTCTTGCGTA550
rs185397967snpA/C0.0003668560.0135386upstream-variant-2KB, intron-variantHTRA2, DQX1, AUP1GRCh38.p72:74527459CCAGTGTGGGGCCAC[A/C]CTTTCCCATACCCAG550
rs186272815snpA/C/G0.0001154180.00759585synonymous-codon, upstream-variant-2KB, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74530728TGATCGGCGCAGAGT[A/C/G]CGTGTGAGACTGCTA550
rs186931885snpC/T0.0003992810.0141238upstream-variant-2KB, intron-variant, downstream-variant-500BDQX1, AUP1GRCh38.p72:74526535GGTGATTTTAGACAG[C/T]TGCAGTCTGACTACC550
rs188931759snpA/G1.65789e-050.0028791upstream-variant-2KB, missense, nc-transcript-variantDQX1, AUP1GRCh38.p72:74527016GAAGACTTGGCAAAT[A/G]TTAGGGCTGTTGGCT550
rs190697890snpC/T0.001596170.0282053upstream-variant-2KB, utr-variant-3-prime, nc-transcript-variantDQX1, AUP1GRCh38.p72:74526717CCTTTTTACCACCCA[C/T]CCATCCAGCCTGTTG550
rs190881289snpA/G3.51908e-050.00419454upstream-variant-2KB, missense, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74528758AAACCCACCTGAAGC[A/G]CAGGAGCCCCTCCCG550
rs192648426snpA/T0.001596170.0282053upstream-variant-2KB, intron-variant, downstream-variant-500BDQX1, AUP1GRCh38.p72:74526577TACGAGAAGACTCTC[A/T]CCCCCATCCCCCGCA550
rs199618422snpA/G0.001997940.0315432upstream-variant-2KB, synonymous-codon, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74528447TCTCTGAACTTGCAG[A/G]GTAAGAGGTTGTACC550
rs199735424snpA/G0.002326380.0340262synonymous-codon, upstream-variant-2KB, nc-transcript-variant, intron-variantHTRA2, AUP1GRCh38.p72:74530360TGGGGGGGCAGTGCT[A/G]TTGTTGTTGTGGGGC550
rs199759035snpC/T1.66275e-050.00288331upstream-variant-2KB, missense, nc-transcript-variantHTRA2, DQX1, AUP1GRCh38.p72:74527524AAAACTTCCTTGACT[C/T]TCTGAGCCAGAGTTG550
rs199770792snpA/G0.002381110.0344222upstream-variant-2KB, intron-variant, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74528946AGAGGCTGGGAACCA[A/G]GAGAAGAGAAAGCAA550
rs200036604snpC/T0.0001483130.00861014missense, upstream-variant-2KB, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74530754TGCTAAGCGGCGACA[C/T]GTATGAGGCCGTGGT550
rs200125673snpA/G/T0.0006504330.0180223upstream-variant-2KB, missense, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74528887GCCCATTCATCTCCA[A/G/T]GAAGCCCCGAGACCA550
rs200160127snpC/T0.0001499140.00865647upstream-variant-2KB, missense, nc-transcript-variantDQX1, AUP1GRCh38.p72:74527313CAGGCATGAAAGCTA[C/T]GGCCCCCTCAAGCAG550
rs200200250snpG/Tintron-variant, upstream-variant-2KBHTRA2, AUP1GRCh38.p72:74531159AGGGGGGAGAGGCTG[G/T]GTGGTACAAGCACCA550
rs200207628snpC/G6.62383e-050.00575454upstream-variant-2KB, missense, nc-transcript-variantHTRA2, DQX1, AUP1GRCh38.p72:74527978CCTCATTCGCTTCCC[C/G]TAGTTGGCGATGAAC550
rs200428184snpA/G9.1295e-050.00675568utr-variant-5-prime, missense, nc-transcript-variant, synonymous-codonHTRA2, AUP1GRCh38.p72:74529584GGGTCTCTTACCGGT[A/G]CGAGTCAAAGAGCCG550
rs200530328snpA/G0.0001495820.0086469upstream-variant-2KB, synonymous-codon, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74528849AGCACAGAATCTCTT[A/G]AGTGACTCCACCAAC550
rs200747610snpC/T0.0002334970.0108025synonymous-codon, upstream-variant-2KB, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74530620CCTCCATTTCAGGCA[C/T]CCTTTCTTGGGCCGC550
rs200787766snpC/G1.65974e-050.0028807upstream-variant-2KB, intron-variantDQX1, AUP1GRCh38.p72:74527376TGGCTGGGGAGAAAA[C/G]AGAAGGGAGTCCACT550
rs200853443in-del-/ACutr-variant-5-prime, frameshift-variant, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74529407TGACCAGGAAGACGT[-/AC]GGATCCCGAGAAAGA550
rs200897349snpA/G1.66699e-050.00288698upstream-variant-2KB, missense, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74529197CATGGTTGGAAATGA[A/G]GACCCTGACACTGTG550
rs201175737snpA/G0.0007780230.019708upstream-variant-2KB, intron-variantHTRA2, DQX1, AUP1GRCh38.p72:74527911CTAAGCAGGGACCCC[A/G]CCTCCACCCTGTCTG550
rs201225621snpC/G0.00263970.0362337upstream-variant-2KB, missense, nc-transcript-variant, synonymous-codonHTRA2, AUP1GRCh38.p72:74529372GGAACCTGCGAAGGA[C/G]GCTGTCTGGCAGCGC550
rs201319345snpC/G/T5.47334e-050.00523108upstream-variant-2KB, intron-variant, missenseHTRA2, AUP1GRCh38.p72:74529316GTGACTGTGTGGCCT[C/G/T]GGGCCAGACCCAGCT550
rs201505019snpC/T4.9579e-050.00497866intron-variant, upstream-variant-2KBHTRA2, AUP1GRCh38.p72:74531117TGATGTGCGTCCTGA[C/T]AGGAGAGAAATGACA550
rs201602661snpA/G1.66874e-050.0028885upstream-variant-2KB, missense, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74528889CCATTCATCTCCATG[A/G]AGCCCCGAGACCAGC550
rs201615648snpA/G3.30262e-050.0040635missense, upstream-variant-2KB, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74531688GAGAGTTTCTGCATC[A/G]TGGGGAAAAGAAGAG550
rs201636990snpA/G1.76424e-050.00297missense, upstream-variant-2KB, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74530494CACCTGCCGTGGTCT[A/G]TATCGAGATCCTGGA550
rs201648655snpA/G0.0007140310.0188814upstream-variant-2KB, missense, nc-transcript-variantDQX1, AUP1GRCh38.p72:74527043GGCTGAGGGGTCACC[A/G]GGCCAGAGCTGGGAA550
rs201711130snpC/T0.0003319720.0128793upstream-variant-2KB, missense, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74529161TAAGCAAATTGACTA[C/T]GTTGTGGTCGAAAGG550
rs201745686snpA/C6.25319e-050.00559125upstream-variant-2KB, intron-variantDQX1, AUP1GRCh38.p72:74527207ATAGCCTGCCCCCAA[A/C]TCACCCCAACACTTG550
rs201824144snpA/G00upstream-variant-2KB, intron-variant, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74528975AAGAAGAAAAATATT[A/G]AGGAAAATGAAAAAA550
rs201835560snpA/G0.08674230.189333upstream-variant-2KB, intron-variantHTRA2, DQX1, AUP1GRCh38.p72:74527691GAATCACAGTAGGCC[A/G]AAAAAAAAAAACCCC550
rs201875183snpA/C/G4.94387e-050.00497165missense, synonymous-codon, intron-variant, upstream-variant-2KB, nc-transcript-variantHTRA2, AUP1GRCh38.p72:74531066CCTGGGACTCCCCCA[A/C/G]ACCAATGTGGAATAC550
rs201936888snpC/G/T0.0002964690.0121717intron-variant, upstream-variant-2KBHTRA2, AUP1GRCh38.p72:74531320CAGATCTCTTTCATG[C/G/T]TTTCTCCTTGTCCTA550
rs202071943snpA/C0.0005676510.0168375upstream-variant-2KB, intron-variantHTRA2, DQX1, AUP1GRCh38.p72:74527702GGCCGAAAAAAAAAA[A/C]CCCCAAAAGCTGTAA550
rs202233554snpA/G4.9689e-050.00498418upstream-variant-2KB, synonymous-codon, nc-transcript-variantDQX1, AUP1GRCh38.p72:74526949CCCTCACCTTCTTGC[A/G]TATTCATATAGTGCT550
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