ATXN3L
SNP - dbSNP
dbSNPTypeAllelesHetSe(het)Fxn-classGene NameAssemblyChr-posSequenceEntrez Gene
rs4830842snpC/T0.4996620.0129949missense, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318940GCGGCCTGTACTGTG[C/T]CTTCACTGATGTCAT92552
rs4830843snpA/G0.06600890.169255upstream-variant-2KBATXN3LGRCh38.p7X:13321043GGCCTCAGAACCTTA[A/G]GATTCAGGTAGAGTT92552
rs6632679snpA/G0.4168980.186132upstream-variant-2KBATXN3LGRCh38.p7X:13321814CCTTCAGAAGTTTAC[A/G]TAAGTGATGATGATA92552
rs12558229snpG/Tupstream-variant-2KBATXN3LGRCh38.p7X:13320946GGGTCCAGATGGAAG[G/T]ACATGTATCCTGACC92552
rs12842741snpC/T0.2043140.24579upstream-variant-2KBATXN3LGRCh38.p7X:13320682CAAAAGTAGTAACCA[C/T]TAGATTTTACTGTTT92552
rs12844569snpA/Gupstream-variant-2KBATXN3LGRCh38.p7X:13321616GTAAAGATGGAAGTG[A/G]CAAAAGTTATTTGCA92552
rs12844571snpA/C00upstream-variant-2KBATXN3LGRCh38.p7X:13321625GAAGTGACAAAAGTT[A/C]TTTGCAGATGTTCTG92552
rs12844603snpA/Gupstream-variant-2KBATXN3LGRCh38.p7X:13321665GTTGCATTCTTAAAC[A/G]CATCTGTCACAATAT92552
rs16999010snpA/G0.005181370.0506344missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319139ATGATGTCTTTGGAA[A/G]ATCTTGCGATGTGTT92552
rs17256276snpC/T0.008440890.0644143upstream-variant-2KBATXN3LGRCh38.p7X:13322036CAGTATTGACTATGG[C/T]ATTTTTACAGGTACC92552
rs17322143snpC/T0.1862280.241729synonymous-codon, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318996CGAACTTGTTGTTGG[C/T]CTTTCGTGTAGGTAT92552
rs41297291snpC/T0.003173760.039709intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318621TAGACACATTAGATA[C/T]TGCAGGCTCAAAAAT92552
rs58878737snpG/T0.1050690.203703utr-variant-3-prime, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318720ACGATCATTATTTAG[G/T]CCCACATCTCTCTCG92552
rs73192260snpA/G0.0005296610.016265upstream-variant-2KBATXN3LGRCh38.p7X:13322005TCCAAGTAAATTATC[A/G]TACTGTTTCTCATCT92552
rs79462421snpA/Gutr-variant-5-prime, downstream-variant-500BATXN3L, GS1-600G8.3GRCh38.p7X:13320390AACCGAATGGACACC[A/G]TGGGATTTTGGAACT92552
rs114500497snpC/T0.05857340.160798upstream-variant-2KBATXN3LGRCh38.p7X:13321463GGATTTTCAGGTATC[C/T]AGGCAAGTGATCATA92552
rs138056772snpA/G/T0.000624090.0176541missense, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319522ATTAATTCTGGACCC[A/G/T]CCAAGAGAGAATTCA92552
rs138358324snpC/T0.0225220.1037upstream-variant-2KBATXN3LGRCh38.p7X:13321105GGATTTTTTGAGGTG[C/T]GTATAGAAGATGTAT92552
rs140774548snpA/G0.005917510.0540716utr-variant-5-prime, downstream-variant-500BATXN3L, GS1-600G8.3GRCh38.p7X:13319969TTCTGTAGGTATGCC[A/G]GAAGATGTTGTATGC92552
rs144824419snpC/T0.003173760.039709upstream-variant-2KBATXN3LGRCh38.p7X:13321682ATCTGTCACAATATG[C/T]TTTTTCAGGTTTCAG92552
rs145682415snpA/G0.003173760.039709intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318446CTATGATCAACACAG[A/G]CAAGAGACACTTCCC92552
rs149782403snpA/G0.01524620.0859689intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318361GTGATCAGAGGAAAT[A/G]ACATAAGAATATACT92552
rs182001279snpA/C0.0005296610.016265upstream-variant-2KBATXN3LGRCh38.p7X:13322151AGTGATTCTCATGAG[A/C]TGTGTCATGGTCTAA92552
rs182064557snpG/T0.001588140.0281345upstream-variant-2KBATXN3LGRCh38.p7X:13320963CATGTATCCTGACCA[G/T]GGTTGCCACCATATG92552
rs182793965snpA/Cintron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318217CACCCCCAAACAAAG[A/C]AAGAGTAATGCACCA92552
rs184627921snpC/T0.01096690.0732339missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319244TTAGTTCAAGGGCCC[C/T]CTGAAAATCCTCCTC92552
rs184922714snpG/T0.0005296610.016265upstream-variant-2KBATXN3LGRCh38.p7X:13320476AGGTTCCAGTCAATA[G/T]ATGACAATAAAACTC92552
rs185955492snpC/G0.008440890.0644143upstream-variant-2KBATXN3LGRCh38.p7X:13321024TGTCTCTAACTACAA[C/G]ATTGGCCTCAGAACC92552
rs187826331snpA/G4.68549e-050.00483996synonymous-codon, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318921TTCTAAAATGGTGTC[A/G]ACAGCGGCCTGTACT92552
rs188342261snpA/G0.0005306940.0162808missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319687CCCCAGAACTTCAAG[A/G]CATTGCTTATTACCT92552
rs189383792snpA/T0.001588140.0281345upstream-variant-2KBATXN3LGRCh38.p7X:13320797CCACAGTAGTAACTA[A/T]GGGATTTTTGCAGGA92552
rs192281200snpC/T0.0005296610.016265utr-variant-5-prime, downstream-variant-500BATXN3L, GS1-600G8.3GRCh38.p7X:13320229CACCATAGTAGTGCC[C/T]GTTGGAATTTCAGAT92552
rs192647842snpA/G0.0005296610.016265missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319025ATGAACTGTGGCCCG[A/G]CAGATCTGACTGTTG92552
rs193160585snpA/C0.003701730.0428621intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318174GCAGTCCAGACTGGG[A/C]GACAGAGCGTCTTTG92552
rs199861470snpC/T0.0007940120.0199092missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319628TTATAGGATCAATGC[C/T]GAGCTTCTGATATTC92552
rs199943946snpA/G4.61931e-050.00480567missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319441GGCAGATCACCCTTG[A/G]CAACAAATACAGAAT92552
rs199954866snpA/G0.0006464790.0179672missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319444AGATCACCCTTGACA[A/G]CAAATACAGAATATG92552
rs199968559snpA/G0.0009517840.0217942stop-gained, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318932TGTCGACAGCGGCCT[A/G]TACTGTGCCTTCACT92552
rs200821460snpG/T0.0006878640.0185326missense, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318909CTTTCTCATAATTTC[G/T]AAAATGGTGTCGACA92552
rs201089107snpG/T0.0005296610.016265missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319306TCTTCTGATACTTTT[G/T]CAAGGACTGTTTTAT92552
rs201093759snpA/G0.0002773440.0117727synonymous-codon, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319329TGTTTTATAGACTCT[A/G]TGCTCTTTTTGTTTT92552
rs201168546snpA/G0.0003004180.0122523missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319199TAGTACTGCGGAGAT[A/G]TTCATCTTCTCTATT92552
rs201381068snpA/C/T0.00231460.0339409missense, stop-gained, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319859CAGGGCTAAAATATT[A/C/T]TCCTTGCAATAGATT92552
rs201960773snpA/Gmissense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319237TGGCGGCTTAGTTCA[A/G]GGGCCCTCTGAAAAT92552
rs201988976snpA/G0.0002769990.0117653missense, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318973CTGAGATCACTCTCA[A/G]TTGCTCTCGAACTTG92552
rs202175024snpC/T0.0007393290.0192124missense, splice-donor-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319495AAGAAATTTGCAAGG[C/T]ATGTATCTGATATTA92552
rs367551011snpC/T2.31267e-050.00340042missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319385GTGTATCCATCTCTT[C/T]GACACTGATGATCTG92552
rs367726512snpA/T0.0007854460.0198017synonymous-codon, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319269CTCCTCATCTTGGTC[A/T]GATGTTCCAGACTCA92552
rs367729057snpA/T0.0005296610.016265upstream-variant-2KBATXN3LGRCh38.p7X:13321005GGTAGTCAAGAGATG[A/T]TGGTGTCTCTAACTA92552
rs368171709snpA/G0.0008217520.0202534synonymous-codon, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318890CCCCTTTGATTTTCA[A/G]ATTCTTTCTCATAAT92552
rs369292098snpA/G2.2894e-050.00338327synonymous-codon, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319758CTGCTGTAAAAATGC[A/G]AGATACTCTTCACTG92552
rs369799117snpA/G6.04157e-050.00549583utr-variant-5-prime, downstream-variant-500BATXN3L, GS1-600G8.3GRCh38.p7X:13319935AAAGATGAAATCCAT[A/G]TTAATTGTATCCGTG92552
rs369915965snpA/C/T0.0001385130.00832103missense, stop-gained, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319001TTGTTGTTGGCCTTT[A/C/T]GTGTAGGTATGAACT92552
rs370622354snpC/T4.62214e-050.00480714missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319192AACTCAATAGTACTG[C/T]GGAGATGTTCATCTT92552
rs370877568snpC/T4.6167e-050.00480431missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319082GCTTTTCAAAATAGT[C/T]TTCTTTTATTTTCTT92552
rs371393419snpA/G0.000245970.0110871missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319853ATTCCACAGGGCTAA[A/G]ATATTCTCCTTGCAA92552
rs371955032snpA/G0.0002336010.0108049synonymous-codon, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319629TATAGGATCAATGCC[A/G]AGCTTCTGATATTCA92552
rs373180769snpA/G0.000143960.00848288utr-variant-5-prime, downstream-variant-500BATXN3L, GS1-600G8.3GRCh38.p7X:13319948ATGTTAATTGTATCC[A/G]TGAGTTTCTGTAGGT92552
rs373746855snpA/G6.93722e-050.00588908missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319370TTCCATTAAGTTTTG[A/G]TGTATCCATCTCTTC92552
rs373799323snpA/G/T4.61726e-050.00480464missense, synonymous-codon, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319002TGTTGTTGGCCTTTC[A/G/T]TGTAGGTATGAACTG92552
rs374904340snpA/Tupstream-variant-2KBATXN3LGRCh38.p7X:13321346ATTCGGGTAAAAAAA[A/T]ATGATACGGGCTCTA92552
rs374978755snpC/G0.0001633450.00903582missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319637CAATGCCGAGCTTCT[C/G]ATATTCAGGATTATT92552
rs375597318snpC/T6.95975e-050.00589864missense, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319571CAAATTTTCTAATAG[C/T]AAACCAGTGTTGTTT92552
rs376072867snpC/T0.000277120.0117679missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319172CGGAACTACCTTGCA[C/T]GCTTAACTCAATAGT92552
rs376294771snpC/T2.31075e-050.003399missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319474GCTTGTTGTTGTAAT[C/T]GAGCCAAGAAATTTG92552
rs376418054snpC/T2.30838e-050.00339726synonymous-codon, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319044ATCTGACTGTTGTTG[C/T]TGCTGCTTCTGTTCC92552
rs376950658snpA/G0.0001164610.00762999synonymous-codon, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318927AATGGTGTCGACAGC[A/G]GCCTGTACTGTGCCT92552
rs377086256snpC/T5.11633e-050.00505757utr-variant-3-prime, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318846TGGAAAGTATGACTA[C/T]CTAAATTATTTTTAA92552
rs539130999snpC/T0.005283980.051128upstream-variant-2KBATXN3LGRCh38.p7X:13322332TTCAGATTTCAGTTA[C/T]CTCGGTAAGCGTTGA92552
rs547199495snpC/T0.00771340.0616214missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319621CTTTCATTTATAGGA[C/T]CAATGCCGAGCTTCT92552
rs561564726snpA/Gintron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318303ATATTACCATATTTC[A/G]AAAGACTTGTGGAAA92552
rs571896028snpA/Gutr-variant-5-prime, downstream-variant-500BATXN3L, GS1-600G8.3GRCh38.p7X:13320379ACATGGGCTTTAACC[A/G]AATGGACACCATGGG92552
rs576014000snpA/G0.00264550.0362733upstream-variant-2KBATXN3LGRCh38.p7X:13321488ATCATAACTTTCTTC[A/G]CCACAGTAATGACCT92552
rs745317447snpA/G2.3111e-050.00339926synonymous-codon, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319266ATCCTCCTCATCTTG[A/G]TCTGATGTTCCAGAC92552
rs745343506snpA/Gupstream-variant-2KBATXN3LGRCh38.p7X:13322070TCAAGAGATTATGAC[A/G]TATCCATGGTTTTGA92552
rs745547851snpA/G2.30963e-050.00339818missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319171CCGGAACTACCTTGC[A/G]TGCTTAACTCAATAG92552
rs745986918snpC/T2.31107e-050.00339924missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319490GAGCCAAGAAATTTG[C/T]AAGGCATGTATCTGA92552
rs746008446snpC/T0.0005296610.016265upstream-variant-2KBATXN3LGRCh38.p7X:13322071CAAGAGATTATGACA[C/T]ATCCATGGTTTTGAC92552
rs746258986snpC/G4.61931e-050.00480567missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319170TCCGGAACTACCTTG[C/G]ATGCTTAACTCAATA92552
rs746262736in-del-/A0.0005296610.016265upstream-variant-2KBATXN3LGRCh38.p7X:13321429AGATATTGTGTGTTT[-/A]ACTTTAGGAGTGAAT92552
rs746769032snpC/G2.31035e-050.00339871missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319186ATGCTTAACTCAATA[C/G]TACTGCGGAGATGTT92552
rs746865828snpC/T2.31072e-050.00339898missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319282TCTGATGTTCCAGAC[C/T]CATCACTTTCTTCTG92552
rs746994522snpC/G0.0005296610.016265intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318237GTAATGCACCAGAGT[C/G]ATGAAATAATGATCT92552
rs747101778snpA/G2.30325e-050.00339348synonymous-codon, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319868AATATTCTCCTTGCA[A/G]TAGATTGTTCAGACA92552
rs747148358snpG/T0.0005296610.016265upstream-variant-2KBATXN3LGRCh38.p7X:13321948TTACTAGTGCAGAGA[G/T]AATGTTTTGAAATCT92552
rs747248952snpC/T0.0005296610.016265upstream-variant-2KBATXN3LGRCh38.p7X:13321287CATCGAGGTAAGTGA[C/T]GATGATGTCCTCAAC92552
rs747767169snpA/G0.0001387240.00832721missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319378AGTTTTGGTGTATCC[A/G]TCTCTTCGACACTGA92552
rs747877809snpA/G2.31024e-050.00339863stop-gained, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319466CAGAATATGCTTGTT[A/G]TTGTAATCGAGCCAA92552
rs748134130in-del-/TTAAutr-variant-3-prime, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318667AAAGCTAATTTAAAT[-/TTAA]TTAATTGCTGAATGT92552
rs748261338in-del-/G0.0005296610.016265utr-variant-5-prime, downstream-variant-500BATXN3L, GS1-600G8.3GRCh38.p7X:13320124TATTGTGACCAAGGT[-/G]GTTTTGCCAGTATCC92552
rs748416747snpA/G5.39236e-050.0051922missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319919CTTCCTGTTTCTCAT[A/G]AAAGATGAAATCCAT92552
rs748575975snpC/G2.30545e-050.0033951missense, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319701GGCATTGCTTATTAC[C/G]TGAATGGAGAAGAAA92552
rs748673522snpA/G2.3084e-050.00339728stop-gained, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319037CCGGCAGATCTGACT[A/G]TTGTTGCTGCTGCTT92552
rs748686220snpC/T2.30843e-050.0033973synonymous-codon, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319050CTGTTGTTGCTGCTG[C/T]TTCTGTTCCTGCTGA92552
rs748842200snpA/Gupstream-variant-2KBATXN3LGRCh38.p7X:13320884TGTCCAAGTACACTT[A/G]GTGGTTGCCCTAATG92552
rs749171695snpC/T0.0005296610.016265upstream-variant-2KBATXN3LGRCh38.p7X:13321093CTAGTCACCATGGGA[C/T]TTTTTGAGGTGCGTA92552
rs749842154snpG/T0.001059040.0229869upstream-variant-2KBATXN3LGRCh38.p7X:13322262AATGATAGTGAACAT[G/T]GACTTAGCTAAAAGA92552
rs750406543snpC/G4.61697e-050.00480444missense, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319004TTGTTGGCCTTTCGT[C/G]TAGGTATGAACTGTG92552
rs750576834snpC/T2.30854e-050.00339737synonymous-codon, nc-transcript-variantATXN3L, GS1-600G8.3GRCh38.p7X:13319098TTCTTTTATTTTCTT[C/T]GGCTGTTCTGAAGCA92552
rs750682579snpA/C/T0.0001166610.00763667missense, intron-variantATXN3L, GS1-600G8.3GRCh38.p7X:13318926AAATGGTGTCGACAG[A/C/T]GGCCTGTACTGTGCC92552
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