SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs4830842 | snp | C/T | 0.499662 | 0.0129949 | missense, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318940 | GCGGCCTGTACTGTG[C/T]CTTCACTGATGTCAT | 92552 |
rs4830843 | snp | A/G | 0.0660089 | 0.169255 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321043 | GGCCTCAGAACCTTA[A/G]GATTCAGGTAGAGTT | 92552 |
rs6632679 | snp | A/G | 0.416898 | 0.186132 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321814 | CCTTCAGAAGTTTAC[A/G]TAAGTGATGATGATA | 92552 |
rs12558229 | snp | G/T | | | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13320946 | GGGTCCAGATGGAAG[G/T]ACATGTATCCTGACC | 92552 |
rs12842741 | snp | C/T | 0.204314 | 0.24579 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13320682 | CAAAAGTAGTAACCA[C/T]TAGATTTTACTGTTT | 92552 |
rs12844569 | snp | A/G | | | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321616 | GTAAAGATGGAAGTG[A/G]CAAAAGTTATTTGCA | 92552 |
rs12844571 | snp | A/C | 0 | 0 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321625 | GAAGTGACAAAAGTT[A/C]TTTGCAGATGTTCTG | 92552 |
rs12844603 | snp | A/G | | | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321665 | GTTGCATTCTTAAAC[A/G]CATCTGTCACAATAT | 92552 |
rs16999010 | snp | A/G | 0.00518137 | 0.0506344 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319139 | ATGATGTCTTTGGAA[A/G]ATCTTGCGATGTGTT | 92552 |
rs17256276 | snp | C/T | 0.00844089 | 0.0644143 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13322036 | CAGTATTGACTATGG[C/T]ATTTTTACAGGTACC | 92552 |
rs17322143 | snp | C/T | 0.186228 | 0.241729 | synonymous-codon, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318996 | CGAACTTGTTGTTGG[C/T]CTTTCGTGTAGGTAT | 92552 |
rs41297291 | snp | C/T | 0.00317376 | 0.039709 | intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318621 | TAGACACATTAGATA[C/T]TGCAGGCTCAAAAAT | 92552 |
rs58878737 | snp | G/T | 0.105069 | 0.203703 | utr-variant-3-prime, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318720 | ACGATCATTATTTAG[G/T]CCCACATCTCTCTCG | 92552 |
rs73192260 | snp | A/G | 0.000529661 | 0.016265 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13322005 | TCCAAGTAAATTATC[A/G]TACTGTTTCTCATCT | 92552 |
rs79462421 | snp | A/G | | | utr-variant-5-prime, downstream-variant-500B | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13320390 | AACCGAATGGACACC[A/G]TGGGATTTTGGAACT | 92552 |
rs114500497 | snp | C/T | 0.0585734 | 0.160798 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321463 | GGATTTTCAGGTATC[C/T]AGGCAAGTGATCATA | 92552 |
rs138056772 | snp | A/G/T | 0.00062409 | 0.0176541 | missense, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319522 | ATTAATTCTGGACCC[A/G/T]CCAAGAGAGAATTCA | 92552 |
rs138358324 | snp | C/T | 0.022522 | 0.1037 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321105 | GGATTTTTTGAGGTG[C/T]GTATAGAAGATGTAT | 92552 |
rs140774548 | snp | A/G | 0.00591751 | 0.0540716 | utr-variant-5-prime, downstream-variant-500B | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319969 | TTCTGTAGGTATGCC[A/G]GAAGATGTTGTATGC | 92552 |
rs144824419 | snp | C/T | 0.00317376 | 0.039709 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321682 | ATCTGTCACAATATG[C/T]TTTTTCAGGTTTCAG | 92552 |
rs145682415 | snp | A/G | 0.00317376 | 0.039709 | intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318446 | CTATGATCAACACAG[A/G]CAAGAGACACTTCCC | 92552 |
rs149782403 | snp | A/G | 0.0152462 | 0.0859689 | intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318361 | GTGATCAGAGGAAAT[A/G]ACATAAGAATATACT | 92552 |
rs182001279 | snp | A/C | 0.000529661 | 0.016265 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13322151 | AGTGATTCTCATGAG[A/C]TGTGTCATGGTCTAA | 92552 |
rs182064557 | snp | G/T | 0.00158814 | 0.0281345 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13320963 | CATGTATCCTGACCA[G/T]GGTTGCCACCATATG | 92552 |
rs182793965 | snp | A/C | | | intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318217 | CACCCCCAAACAAAG[A/C]AAGAGTAATGCACCA | 92552 |
rs184627921 | snp | C/T | 0.0109669 | 0.0732339 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319244 | TTAGTTCAAGGGCCC[C/T]CTGAAAATCCTCCTC | 92552 |
rs184922714 | snp | G/T | 0.000529661 | 0.016265 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13320476 | AGGTTCCAGTCAATA[G/T]ATGACAATAAAACTC | 92552 |
rs185955492 | snp | C/G | 0.00844089 | 0.0644143 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321024 | TGTCTCTAACTACAA[C/G]ATTGGCCTCAGAACC | 92552 |
rs187826331 | snp | A/G | 4.68549e-05 | 0.00483996 | synonymous-codon, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318921 | TTCTAAAATGGTGTC[A/G]ACAGCGGCCTGTACT | 92552 |
rs188342261 | snp | A/G | 0.000530694 | 0.0162808 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319687 | CCCCAGAACTTCAAG[A/G]CATTGCTTATTACCT | 92552 |
rs189383792 | snp | A/T | 0.00158814 | 0.0281345 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13320797 | CCACAGTAGTAACTA[A/T]GGGATTTTTGCAGGA | 92552 |
rs192281200 | snp | C/T | 0.000529661 | 0.016265 | utr-variant-5-prime, downstream-variant-500B | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13320229 | CACCATAGTAGTGCC[C/T]GTTGGAATTTCAGAT | 92552 |
rs192647842 | snp | A/G | 0.000529661 | 0.016265 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319025 | ATGAACTGTGGCCCG[A/G]CAGATCTGACTGTTG | 92552 |
rs193160585 | snp | A/C | 0.00370173 | 0.0428621 | intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318174 | GCAGTCCAGACTGGG[A/C]GACAGAGCGTCTTTG | 92552 |
rs199861470 | snp | C/T | 0.000794012 | 0.0199092 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319628 | TTATAGGATCAATGC[C/T]GAGCTTCTGATATTC | 92552 |
rs199943946 | snp | A/G | 4.61931e-05 | 0.00480567 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319441 | GGCAGATCACCCTTG[A/G]CAACAAATACAGAAT | 92552 |
rs199954866 | snp | A/G | 0.000646479 | 0.0179672 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319444 | AGATCACCCTTGACA[A/G]CAAATACAGAATATG | 92552 |
rs199968559 | snp | A/G | 0.000951784 | 0.0217942 | stop-gained, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318932 | TGTCGACAGCGGCCT[A/G]TACTGTGCCTTCACT | 92552 |
rs200821460 | snp | G/T | 0.000687864 | 0.0185326 | missense, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318909 | CTTTCTCATAATTTC[G/T]AAAATGGTGTCGACA | 92552 |
rs201089107 | snp | G/T | 0.000529661 | 0.016265 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319306 | TCTTCTGATACTTTT[G/T]CAAGGACTGTTTTAT | 92552 |
rs201093759 | snp | A/G | 0.000277344 | 0.0117727 | synonymous-codon, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319329 | TGTTTTATAGACTCT[A/G]TGCTCTTTTTGTTTT | 92552 |
rs201168546 | snp | A/G | 0.000300418 | 0.0122523 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319199 | TAGTACTGCGGAGAT[A/G]TTCATCTTCTCTATT | 92552 |
rs201381068 | snp | A/C/T | 0.0023146 | 0.0339409 | missense, stop-gained, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319859 | CAGGGCTAAAATATT[A/C/T]TCCTTGCAATAGATT | 92552 |
rs201960773 | snp | A/G | | | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319237 | TGGCGGCTTAGTTCA[A/G]GGGCCCTCTGAAAAT | 92552 |
rs201988976 | snp | A/G | 0.000276999 | 0.0117653 | missense, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318973 | CTGAGATCACTCTCA[A/G]TTGCTCTCGAACTTG | 92552 |
rs202175024 | snp | C/T | 0.000739329 | 0.0192124 | missense, splice-donor-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319495 | AAGAAATTTGCAAGG[C/T]ATGTATCTGATATTA | 92552 |
rs367551011 | snp | C/T | 2.31267e-05 | 0.00340042 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319385 | GTGTATCCATCTCTT[C/T]GACACTGATGATCTG | 92552 |
rs367726512 | snp | A/T | 0.000785446 | 0.0198017 | synonymous-codon, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319269 | CTCCTCATCTTGGTC[A/T]GATGTTCCAGACTCA | 92552 |
rs367729057 | snp | A/T | 0.000529661 | 0.016265 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321005 | GGTAGTCAAGAGATG[A/T]TGGTGTCTCTAACTA | 92552 |
rs368171709 | snp | A/G | 0.000821752 | 0.0202534 | synonymous-codon, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318890 | CCCCTTTGATTTTCA[A/G]ATTCTTTCTCATAAT | 92552 |
rs369292098 | snp | A/G | 2.2894e-05 | 0.00338327 | synonymous-codon, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319758 | CTGCTGTAAAAATGC[A/G]AGATACTCTTCACTG | 92552 |
rs369799117 | snp | A/G | 6.04157e-05 | 0.00549583 | utr-variant-5-prime, downstream-variant-500B | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319935 | AAAGATGAAATCCAT[A/G]TTAATTGTATCCGTG | 92552 |
rs369915965 | snp | A/C/T | 0.000138513 | 0.00832103 | missense, stop-gained, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319001 | TTGTTGTTGGCCTTT[A/C/T]GTGTAGGTATGAACT | 92552 |
rs370622354 | snp | C/T | 4.62214e-05 | 0.00480714 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319192 | AACTCAATAGTACTG[C/T]GGAGATGTTCATCTT | 92552 |
rs370877568 | snp | C/T | 4.6167e-05 | 0.00480431 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319082 | GCTTTTCAAAATAGT[C/T]TTCTTTTATTTTCTT | 92552 |
rs371393419 | snp | A/G | 0.00024597 | 0.0110871 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319853 | ATTCCACAGGGCTAA[A/G]ATATTCTCCTTGCAA | 92552 |
rs371955032 | snp | A/G | 0.000233601 | 0.0108049 | synonymous-codon, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319629 | TATAGGATCAATGCC[A/G]AGCTTCTGATATTCA | 92552 |
rs373180769 | snp | A/G | 0.00014396 | 0.00848288 | utr-variant-5-prime, downstream-variant-500B | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319948 | ATGTTAATTGTATCC[A/G]TGAGTTTCTGTAGGT | 92552 |
rs373746855 | snp | A/G | 6.93722e-05 | 0.00588908 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319370 | TTCCATTAAGTTTTG[A/G]TGTATCCATCTCTTC | 92552 |
rs373799323 | snp | A/G/T | 4.61726e-05 | 0.00480464 | missense, synonymous-codon, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319002 | TGTTGTTGGCCTTTC[A/G/T]TGTAGGTATGAACTG | 92552 |
rs374904340 | snp | A/T | | | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321346 | ATTCGGGTAAAAAAA[A/T]ATGATACGGGCTCTA | 92552 |
rs374978755 | snp | C/G | 0.000163345 | 0.00903582 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319637 | CAATGCCGAGCTTCT[C/G]ATATTCAGGATTATT | 92552 |
rs375597318 | snp | C/T | 6.95975e-05 | 0.00589864 | missense, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319571 | CAAATTTTCTAATAG[C/T]AAACCAGTGTTGTTT | 92552 |
rs376072867 | snp | C/T | 0.00027712 | 0.0117679 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319172 | CGGAACTACCTTGCA[C/T]GCTTAACTCAATAGT | 92552 |
rs376294771 | snp | C/T | 2.31075e-05 | 0.003399 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319474 | GCTTGTTGTTGTAAT[C/T]GAGCCAAGAAATTTG | 92552 |
rs376418054 | snp | C/T | 2.30838e-05 | 0.00339726 | synonymous-codon, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319044 | ATCTGACTGTTGTTG[C/T]TGCTGCTTCTGTTCC | 92552 |
rs376950658 | snp | A/G | 0.000116461 | 0.00762999 | synonymous-codon, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318927 | AATGGTGTCGACAGC[A/G]GCCTGTACTGTGCCT | 92552 |
rs377086256 | snp | C/T | 5.11633e-05 | 0.00505757 | utr-variant-3-prime, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318846 | TGGAAAGTATGACTA[C/T]CTAAATTATTTTTAA | 92552 |
rs539130999 | snp | C/T | 0.00528398 | 0.051128 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13322332 | TTCAGATTTCAGTTA[C/T]CTCGGTAAGCGTTGA | 92552 |
rs547199495 | snp | C/T | 0.0077134 | 0.0616214 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319621 | CTTTCATTTATAGGA[C/T]CAATGCCGAGCTTCT | 92552 |
rs561564726 | snp | A/G | | | intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318303 | ATATTACCATATTTC[A/G]AAAGACTTGTGGAAA | 92552 |
rs571896028 | snp | A/G | | | utr-variant-5-prime, downstream-variant-500B | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13320379 | ACATGGGCTTTAACC[A/G]AATGGACACCATGGG | 92552 |
rs576014000 | snp | A/G | 0.0026455 | 0.0362733 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321488 | ATCATAACTTTCTTC[A/G]CCACAGTAATGACCT | 92552 |
rs745317447 | snp | A/G | 2.3111e-05 | 0.00339926 | synonymous-codon, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319266 | ATCCTCCTCATCTTG[A/G]TCTGATGTTCCAGAC | 92552 |
rs745343506 | snp | A/G | | | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13322070 | TCAAGAGATTATGAC[A/G]TATCCATGGTTTTGA | 92552 |
rs745547851 | snp | A/G | 2.30963e-05 | 0.00339818 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319171 | CCGGAACTACCTTGC[A/G]TGCTTAACTCAATAG | 92552 |
rs745986918 | snp | C/T | 2.31107e-05 | 0.00339924 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319490 | GAGCCAAGAAATTTG[C/T]AAGGCATGTATCTGA | 92552 |
rs746008446 | snp | C/T | 0.000529661 | 0.016265 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13322071 | CAAGAGATTATGACA[C/T]ATCCATGGTTTTGAC | 92552 |
rs746258986 | snp | C/G | 4.61931e-05 | 0.00480567 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319170 | TCCGGAACTACCTTG[C/G]ATGCTTAACTCAATA | 92552 |
rs746262736 | in-del | -/A | 0.000529661 | 0.016265 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321429 | AGATATTGTGTGTTT[-/A]ACTTTAGGAGTGAAT | 92552 |
rs746769032 | snp | C/G | 2.31035e-05 | 0.00339871 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319186 | ATGCTTAACTCAATA[C/G]TACTGCGGAGATGTT | 92552 |
rs746865828 | snp | C/T | 2.31072e-05 | 0.00339898 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319282 | TCTGATGTTCCAGAC[C/T]CATCACTTTCTTCTG | 92552 |
rs746994522 | snp | C/G | 0.000529661 | 0.016265 | intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318237 | GTAATGCACCAGAGT[C/G]ATGAAATAATGATCT | 92552 |
rs747101778 | snp | A/G | 2.30325e-05 | 0.00339348 | synonymous-codon, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319868 | AATATTCTCCTTGCA[A/G]TAGATTGTTCAGACA | 92552 |
rs747148358 | snp | G/T | 0.000529661 | 0.016265 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321948 | TTACTAGTGCAGAGA[G/T]AATGTTTTGAAATCT | 92552 |
rs747248952 | snp | C/T | 0.000529661 | 0.016265 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321287 | CATCGAGGTAAGTGA[C/T]GATGATGTCCTCAAC | 92552 |
rs747767169 | snp | A/G | 0.000138724 | 0.00832721 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319378 | AGTTTTGGTGTATCC[A/G]TCTCTTCGACACTGA | 92552 |
rs747877809 | snp | A/G | 2.31024e-05 | 0.00339863 | stop-gained, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319466 | CAGAATATGCTTGTT[A/G]TTGTAATCGAGCCAA | 92552 |
rs748134130 | in-del | -/TTAA | | | utr-variant-3-prime, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318667 | AAAGCTAATTTAAAT[-/TTAA]TTAATTGCTGAATGT | 92552 |
rs748261338 | in-del | -/G | 0.000529661 | 0.016265 | utr-variant-5-prime, downstream-variant-500B | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13320124 | TATTGTGACCAAGGT[-/G]GTTTTGCCAGTATCC | 92552 |
rs748416747 | snp | A/G | 5.39236e-05 | 0.0051922 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319919 | CTTCCTGTTTCTCAT[A/G]AAAGATGAAATCCAT | 92552 |
rs748575975 | snp | C/G | 2.30545e-05 | 0.0033951 | missense, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319701 | GGCATTGCTTATTAC[C/G]TGAATGGAGAAGAAA | 92552 |
rs748673522 | snp | A/G | 2.3084e-05 | 0.00339728 | stop-gained, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319037 | CCGGCAGATCTGACT[A/G]TTGTTGCTGCTGCTT | 92552 |
rs748686220 | snp | C/T | 2.30843e-05 | 0.0033973 | synonymous-codon, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319050 | CTGTTGTTGCTGCTG[C/T]TTCTGTTCCTGCTGA | 92552 |
rs748842200 | snp | A/G | | | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13320884 | TGTCCAAGTACACTT[A/G]GTGGTTGCCCTAATG | 92552 |
rs749171695 | snp | C/T | 0.000529661 | 0.016265 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13321093 | CTAGTCACCATGGGA[C/T]TTTTTGAGGTGCGTA | 92552 |
rs749842154 | snp | G/T | 0.00105904 | 0.0229869 | upstream-variant-2KB | ATXN3L | GRCh38.p7 | X:13322262 | AATGATAGTGAACAT[G/T]GACTTAGCTAAAAGA | 92552 |
rs750406543 | snp | C/G | 4.61697e-05 | 0.00480444 | missense, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319004 | TTGTTGGCCTTTCGT[C/G]TAGGTATGAACTGTG | 92552 |
rs750576834 | snp | C/T | 2.30854e-05 | 0.00339737 | synonymous-codon, nc-transcript-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13319098 | TTCTTTTATTTTCTT[C/T]GGCTGTTCTGAAGCA | 92552 |
rs750682579 | snp | A/C/T | 0.000116661 | 0.00763667 | missense, intron-variant | ATXN3L, GS1-600G8.3 | GRCh38.p7 | X:13318926 | AAATGGTGTCGACAG[A/C/T]GGCCTGTACTGTGCC | 92552 |