SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs3210690 | snp | C/T | | | utr-variant-3-prime | PJA1 | GRCh38.p7 | X:69160877 | AAAAGCTTATTAAAG[C/T]TGTTCTTTTGGTTTT | 64219 |
rs3761645 | snp | A/G | 0 | 0 | missense | PJA1 | GRCh38.p7 | X:69162155 | TACTACAAATACTGC[A/G]ACGAAGACTCTGACA | 64219 |
rs3761646 | snp | C/T | 0.302103 | 0.24451 | synonymous-codon | PJA1 | GRCh38.p7 | X:69162069 | CCTGTCCTCCAGTGG[C/T]GAAAGCTGGGAGACT | 64219 |
rs4844165 | snp | A/G | 0.26952 | 0.249237 | intron-variant | PJA1 | GRCh38.p7 | X:69164384 | GGGGTATGAATGAGC[A/G]CATGTGGCTACATAT | 64219 |
rs5937160 | snp | C/T | 0.274434 | 0.248803 | missense | PJA1 | GRCh38.p7 | X:69161944 | CCATTGCTGCCAGCA[C/T]TGGCCCCGGCGCCAG | 64219 |
rs5937161 | snp | A/G | 0.228254 | 0.249052 | intron-variant | PJA1 | GRCh38.p7 | X:69165305 | CCGGCCACTCGCCCC[A/G]CGCCCGGCCACTCGC | 64219 |
rs5937162 | snp | A/G | 0.0515767 | 0.15208 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69167217 | AAAAATTTCCCTGGC[A/G]CAATGGTACGTGCCT | 64219 |
rs6624385 | snp | C/T | 0.492084 | 0.0624139 | intron-variant | PJA1 | GRCh38.p7 | X:69164282 | GGATTTATGTGAGTG[C/T]GAGTGTGTGCACCTC | 64219 |
rs6625410 | snp | C/G | | | downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160307 | AGGGGGAGagagaga[C/G]agacagacagacaga | 64219 |
rs7067170 | snp | A/G | 0.271894 | 0.249039 | synonymous-codon | PJA1 | GRCh38.p7 | X:69162993 | GGTTCCCGAACTCTC[A/G]CTGTCGTCCCAACTA | 64219 |
rs11539157 | snp | A/C | 0.269647 | 0.249227 | missense | PJA1 | GRCh38.p7 | X:69161421 | CAGCTCAGTTGCCAC[A/C]TCCCCCTTCACATAT | 64219 |
rs12013855 | snp | C/G | 0.0131573 | 0.0800346 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69165859 | TTAGGGTTGCAGTAA[C/G]CTTAAATTTTTTTTA | 64219 |
rs12845039 | snp | G/T | 0 | 0 | downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160582 | TTAATCCTACCATTG[G/T]TTTGTTTCTTTACCA | 64219 |
rs17217584 | snp | A/G | 0.0912962 | 0.193166 | utr-variant-3-prime, downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160763 | GAAGTCAGCATTTCC[A/G]GTGAAACTAAAGCTT | 64219 |
rs17302682 | snp | C/T | 0.459303 | 0.13672 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69166020 | AAAATATTGTAGTTA[C/T]GCCTTTTGGATTTAT | 64219 |
rs34008712 | in-del | -/TT | | | downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160737 | TTTTTTTTTTTTTTT[-/TT]GCAATTGTTGAAGTC | 64219 |
rs35071917 | in-del | -/A | | | utr-variant-3-prime | PJA1 | GRCh38.p7 | X:69161119 | TTCTAACCTCTAAAA[-/A]GATGATATGATTTTT | 64219 |
rs35338063 | in-del | -/CAGA | | | downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160331 | AGACAGACAGACAGA[-/CAGA]GACATCTCTGAAGCA | 64219 |
rs56081513 | snp | C/G | 0.31164 | 0.242282 | intron-variant | PJA1 | GRCh38.p7 | X:69164737 | GGCGCGTGCTCGCGA[C/G]ACACGGGGGGTGGGG | 64219 |
rs61735027 | snp | C/T | 0.000677174 | 0.0183883 | missense | PJA1 | GRCh38.p7 | X:69162034 | GCCTGTGGAGGTTCC[C/T]GCTCTTCTTTCCCCG | 64219 |
rs62606713 | snp | C/G | 0.00633741 | 0.0559334 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69166651 | GAACAAAACAGGTTG[C/G]TTTATTCACTGAGAA | 64219 |
rs62623434 | snp | C/G | | | missense | PJA1 | GRCh38.p7 | X:69162965 | AATAGTCCTCATTAT[C/G]AATATTCAGGTTGGT | 64219 |
rs66525333 | in-del | -/AGAC | 0.462849 | 0.13113 | downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160308 | GGGGGAGAGAGAGAG[-/AGAC]AGACAGACAGACAGA | 64219 |
rs66816842 | snp | A/C | 0.484391 | 0.0869544 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69166097 | AACTCTAGTATTTAC[A/C]GCCAATGTAAACATT | 64219 |
rs67825424 | in-del | -/TTT | | | downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160736 | TTTTTTTTTTTTTTT[-/TTT]GCAATTGTTGAAGTC | 64219 |
rs73222545 | snp | C/G | 0.163909 | 0.234709 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69165668 | AATGTCACAAACACC[C/G]AGCTTTAACTAATGT | 64219 |
rs73634162 | snp | C/G | 0.017851 | 0.0927731 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69165830 | CCGAAAGTATTAAAA[C/G]TGTGAAACCATATTT | 64219 |
rs74409945 | snp | A/G | 0.00380504 | 0.0434516 | synonymous-codon, intron-variant | PJA1 | GRCh38.p7 | X:69162399 | GTGTGGCATATCGTC[A/G]TCATCATCAGTATCA | 64219 |
rs75387847 | snp | A/G | | | downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160324 | GACAGACAGACAGAC[A/G]GACAGACAGAGACAT | 64219 |
rs76248501 | snp | G/T | 0.5 | 0 | downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160736 | TTTTTTTTTTTTTTT[G/T]TTGCAATTGTTGAAG | 64219 |
rs77411352 | snp | C/T | 0.5 | 0 | intron-variant | PJA1 | GRCh38.p7 | X:69163675 | TGAGTGCTGCAGACA[C/T]ACAGGAGAAATGCAA | 64219 |
rs78078195 | snp | A/T | 0.5 | 0 | downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160259 | GCCTAAAAAAATTTA[A/T]TTATTGGAGAGAGAG | 64219 |
rs79153355 | snp | A/T | 0.5 | 0 | downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160427 | CACTTGTGTGGCATA[A/T]TTTTTCAATTCCTAT | 64219 |
rs79401062 | snp | G/T | 0.5 | 0 | missense, intron-variant | PJA1 | GRCh38.p7 | X:69162428 | CAAAAAAAATTTTTG[G/T]TTTCACGCAGTTTGG | 64219 |
rs79625309 | snp | A/G | | | downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160330 | CAGACAGACAGACAG[A/G]CAGAGACATCTCTGA | 64219 |
rs113433731 | snp | A/G | 0.0100156 | 0.0700533 | intron-variant | PJA1 | GRCh38.p7 | X:69163841 | GGGTATGAGTGTTAG[A/G]ATGAGACCCATTCTG | 64219 |
rs138056393 | snp | C/T | 0.0173306 | 0.0914601 | intron-variant | PJA1 | GRCh38.p7 | X:69164488 | GAGGGGGTGTGTGAA[C/T]AGGCATGTGTTCGCG | 64219 |
rs138552221 | snp | C/T | 0.00246033 | 0.0349873 | synonymous-codon, intron-variant | PJA1 | GRCh38.p7 | X:69162918 | TCCTCTTCTGCTACC[C/T]GAAGCTCTGTACTCT | 64219 |
rs138810149 | snp | A/G | 0.00317376 | 0.039709 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69166628 | CTCAAAGTAAAAAGA[A/G]CTAAAGAGAACAAAA | 64219 |
rs138998270 | snp | G/T | 0.000111963 | 0.00748125 | missense, intron-variant | PJA1 | GRCh38.p7 | X:69162709 | AACTTGTCTCGCTCC[G/T]CTCTCACATCACGGC | 64219 |
rs139018666 | snp | C/T | 2.28765e-05 | 0.00338197 | missense | PJA1 | GRCh38.p7 | X:69161903 | CCTGAAGAGATGGTT[C/T]TCGAACTTCTTCAAG | 64219 |
rs139094275 | snp | C/T | 9.11702e-05 | 0.00675106 | missense | PJA1 | GRCh38.p7 | X:69162992 | TGGTTCCCGAACTCT[C/T]GCTGTCGTCCCAACT | 64219 |
rs139281067 | snp | A/G | 0.0100156 | 0.0700533 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69166673 | CACTGAGAAAGATAT[A/G]ACAAGCTGGTGGTGT | 64219 |
rs139602630 | snp | C/G | 0.00791544 | 0.0624105 | utr-variant-3-prime | PJA1 | GRCh38.p7 | X:69160911 | GCACTGCAATTACAG[C/G]AACATCGACCCATAA | 64219 |
rs140592105 | snp | C/T | 0.000188251 | 0.0097 | intron-variant, synonymous-codon | PJA1 | GRCh38.p7 | X:69163218 | ATTGGGCCATACAGG[C/T]TTGCTAGATTCCTGA | 64219 |
rs140630019 | snp | C/T | 4.63194e-05 | 0.00481223 | missense | PJA1 | GRCh38.p7 | X:69162211 | GGGTCGGCCATGGTG[C/T]GTCGTCGTCTCGGCA | 64219 |
rs141198936 | snp | C/G/T | 0.000273582 | 0.0116928 | synonymous-codon, missense, intron-variant | PJA1 | GRCh38.p7 | X:69162930 | ACCCGAAGCTCTGTA[C/G/T]TCTCTTGGCGGATAC | 64219 |
rs141660791 | snp | A/C | 6.8373e-05 | 0.00584652 | missense | PJA1 | GRCh38.p7 | X:69161790 | TACCCCAGGTTGCAT[A/C]AACTCGTGACCAGAA | 64219 |
rs141812548 | snp | A/C/T | 0.00158814 | 0.0281345 | downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160577 | TGGACTTAATCCTAC[A/C/T]ATTGTTTTGTTTCTT | 64219 |
rs142005205 | snp | C/T | 2.28071e-05 | 0.00337684 | synonymous-codon | PJA1 | GRCh38.p7 | X:69161844 | GTCATTCTCATGGTA[C/T]TGGAGCCAAGGAATT | 64219 |
rs142284051 | snp | A/G | 0.000189982 | 0.00974449 | synonymous-codon, intron-variant | PJA1 | GRCh38.p7 | X:69162723 | CTCTCTCACATCACG[A/G]CTAAAACTAGAGAAA | 64219 |
rs142325204 | snp | A/C | 4.59258e-05 | 0.00479174 | missense | PJA1 | GRCh38.p7 | X:69161921 | GAACTTCTTCAAGGT[A/C]ATTGCTGCCATTGCT | 64219 |
rs142609905 | snp | A/G | 0.0220041 | 0.102557 | intron-variant | PJA1 | GRCh38.p7 | X:69163784 | GGTGGAAGGGGACCA[A/G]TAATCCTGCAACAGA | 64219 |
rs142769836 | snp | C/G | 0.0122347 | 0.0772507 | missense | PJA1 | GRCh38.p7 | X:69161322 | TTAGAGTGGGGGAGG[C/G]AACATGCAGCGGCAC | 64219 |
rs142900515 | snp | A/G | 0.0131573 | 0.0800346 | intron-variant, utr-variant-5-prime | PJA1 | GRCh38.p7 | X:69163383 | TTCAGCAGGCAGGTA[A/G]CAGAAAGAATAAGGG | 64219 |
rs143354573 | snp | C/T | 2.63925e-05 | 0.00363257 | missense, intron-variant | PJA1 | GRCh38.p7 | X:69162661 | AGGAAGTCAGCTCTG[C/T]TAGCTGAGCATCTTG | 64219 |
rs143670774 | snp | C/T | 0.0155401 | 0.0867673 | missense | PJA1 | GRCh38.p7 | X:69161954 | CAGCACTGGCCCCGG[C/T]GCCAGCCCCGGCACT | 64219 |
rs143753711 | snp | A/C/G | 6.8375e-05 | 0.00584668 | missense, synonymous-codon | PJA1 | GRCh38.p7 | X:69161796 | AGGTTGCATCAACTC[A/C/G]TGACCAGAATCATTA | 64219 |
rs143977821 | in-del | -/G | 0.251931 | 0.249993 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69166292 | TCAAGAAATGTTGCT[-/G]GGGGGGGTACAAAAA | 64219 |
rs144319364 | snp | A/C | 0.0068637 | 0.0581785 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69167205 | CAAAAAAAACGTAAA[A/C]ATTTCCCTGGCGCAA | 64219 |
rs144546602 | snp | A/C/G | 0.000282841 | 0.011889 | missense | PJA1 | GRCh38.p7 | X:69161989 | CTAGCACCGGGGCCA[A/C/G]GGCTGGTGCCAGTGC | 64219 |
rs144582693 | snp | A/C/G | 0.000140555 | 0.00838198 | synonymous-codon | PJA1 | GRCh38.p7 | X:69162288 | AGGGTACTTTGGCTC[A/C/G]GGATAGCCACTTGAA | 64219 |
rs144593024 | snp | A/G | 0.000959917 | 0.0218869 | missense, intron-variant | PJA1 | GRCh38.p7 | X:69162823 | CCAGTTTTCCCTCTC[A/G]CTGGCGGTCGCTCAA | 64219 |
rs144906426 | snp | A/G | 0.0157677 | 0.0873799 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69167481 | TTTAAAAAAAAACAT[A/G]TGATAGTCACAAAAA | 64219 |
rs144967927 | in-del | -/TT | | | downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160721 | AAGTCACTACCTTCA[-/TT]TTTTTTTTTTTTTTT | 64219 |
rs145187280 | snp | C/T | 0.000171752 | 0.00926533 | synonymous-codon | PJA1 | GRCh38.p7 | X:69161403 | GAAATAGTGGTGGCA[C/T]GGCAGCTCAGTTGCC | 64219 |
rs146361461 | snp | C/T | 4.56002e-05 | 0.00477473 | synonymous-codon | PJA1 | GRCh38.p7 | X:69161580 | GAGAGACTCCAAGTG[C/T]GCAAGGGCAGTTTCC | 64219 |
rs147196192 | snp | A/G | 2.27899e-05 | 0.00337557 | utr-variant-5-prime, missense | PJA1 | GRCh38.p7 | X:69163090 | GGGACTTCGGAGTTC[A/G]TCTTTCTCTGGCTGG | 64219 |
rs147767754 | snp | A/G | 0.149865 | 0.22907 | intron-variant | PJA1 | GRCh38.p7 | X:69164249 | GCAAGCAGGGAGGCA[A/G]GTTGTGTCCCCGTAG | 64219 |
rs147885185 | snp | C/G/T | 4.57491e-05 | 0.00478255 | missense | PJA1 | GRCh38.p7 | X:69162356 | GGCCCTCATTGTCAT[C/G/T]GGCGGTATCCCTCCA | 64219 |
rs148147023 | snp | A/G/T | 4.55895e-05 | 0.00477421 | missense | PJA1 | GRCh38.p7 | X:69161803 | ATCAACTCGTGACCA[A/G/T]AATCATTATCCCCCT | 64219 |
rs149179614 | snp | C/T | 0.0035185 | 0.0417956 | synonymous-codon, intron-variant | PJA1 | GRCh38.p7 | X:69162579 | CCTTCTCTCCCTCTC[C/T]GAGCTGTCACCTTTT | 64219 |
rs149278772 | snp | A/G | 0.000306665 | 0.012379 | synonymous-codon | PJA1 | GRCh38.p7 | X:69161982 | ACTGGCACTAGCACC[A/G]GGGCCAGGGCTGGTG | 64219 |
rs149969540 | snp | C/G | 0.000302013 | 0.0122848 | synonymous-codon | PJA1 | GRCh38.p7 | X:69161346 | GCGGCACACGGGGCA[C/G]GTGCCTGACTTCTGA | 64219 |
rs150041347 | snp | A/T | 0.0199298 | 0.0978146 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69167099 | GTGGTTGACACCTGT[A/T]ATCGCAGCACTTTGG | 64219 |
rs150261275 | snp | C/T | 0.00241741 | 0.0346823 | synonymous-codon | PJA1 | GRCh38.p7 | X:69161886 | CAGGGATGCCTGCTC[C/T]TCCTGAAGAGATGGT | 64219 |
rs150734373 | snp | A/G | 0.000205152 | 0.0101259 | synonymous-codon, intron-variant | PJA1 | GRCh38.p7 | X:69162942 | GTACTCTCTTGGCGG[A/G]TACCTGGAATAGTCC | 64219 |
rs150852915 | snp | A/G | 0.0100156 | 0.0700533 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69166671 | TTCACTGAGAAAGAT[A/G]TGACAAGCTGGTGGT | 64219 |
rs150997516 | snp | C/T | 0.000207211 | 0.0101766 | missense | PJA1 | GRCh38.p7 | X:69162074 | CCCAGCTTTCGCCAC[C/T]GGAGGACAGGGTTTG | 64219 |
rs151117309 | snp | A/C | 0.00738971 | 0.0603345 | intron-variant, utr-variant-5-prime | PJA1 | GRCh38.p7 | X:69163400 | AGAAAGAATAAGGGG[A/C]CTTTAAAATTAGTTT | 64219 |
rs180767696 | snp | A/G | 0.000442262 | 0.0148639 | missense | PJA1 | GRCh38.p7 | X:69162049 | CGCTCTTCTTTCCCC[A/G]GCAGAGTCTCCCAGC | 64219 |
rs181054051 | snp | A/G | 0.000529661 | 0.016265 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69166760 | GAGGTTGAGGCTGAA[A/G]TGAGTGAAGATCACG | 64219 |
rs181335080 | snp | C/T | 0.00475684 | 0.0485365 | downstream-variant-500B | PJA1 | GRCh38.p7 | X:69160436 | GGCATATTTTTTCAA[C/T]TCCTATCTGTGTCAC | 64219 |
rs181716164 | snp | A/G | 0.00105904 | 0.0229869 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69165709 | GCTATATTGCCTTCT[A/G]GTTTTTTAATAAATA | 64219 |
rs182234162 | snp | G/T | 0.000529661 | 0.016265 | missense | PJA1 | GRCh38.p7 | X:69161868 | AGGAATTTCTCCTTC[G/T]TCCAGGGATGCCTGC | 64219 |
rs182602593 | snp | G/T | 0.0220041 | 0.102557 | intron-variant | PJA1 | GRCh38.p7 | X:69163553 | AATCTGACGGAAGGT[G/T]GGGGGGTGACTGGAC | 64219 |
rs183717470 | snp | A/C | 0.0220041 | 0.102557 | intron-variant | PJA1 | GRCh38.p7 | X:69164988 | AAAATATGGGAAGAA[A/C]GGCCACGGAGTGCTC | 64219 |
rs183813485 | snp | C/T | 0.000529661 | 0.016265 | intron-variant | PJA1 | GRCh38.p7 | X:69163940 | GGAAAGGGAAGGTGT[C/T]TGTGTGTGTAGCTGT | 64219 |
rs184434118 | snp | A/C | 2.32518e-05 | 0.00340959 | missense | PJA1 | GRCh38.p7 | X:69161432 | CCACCTCCCCCTTCA[A/C]ATATTCGCTACAGCA | 64219 |
rs184962879 | snp | C/T | 0.000529661 | 0.016265 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69166263 | ACAAAGAGAAAAACT[C/T]ATTCTTAACAAAGGT | 64219 |
rs185397262 | snp | G/T | 0.000529661 | 0.016265 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69165879 | AATTTTTTTTAACCT[G/T]ATGGTTAAAGCAAAT | 64219 |
rs186309122 | snp | A/G/T | | | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69166997 | TAGGAGTGTAGCAAG[A/G/T]TAATGCAAACAACTT | 64219 |
rs186887510 | snp | A/G | | | intron-variant | PJA1 | GRCh38.p7 | X:69165144 | CACCAAAGGGGTTCC[A/G]GCAGCGGAAGATGTG | 64219 |
rs188167339 | snp | C/T | 0.0142023 | 0.083063 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69166481 | TAGGAATAAAAAATA[C/T]ATGAGAGTAAAATAC | 64219 |
rs188473541 | snp | C/T | 0.000529661 | 0.016265 | intron-variant | PJA1 | GRCh38.p7 | X:69163568 | TGGGGGGTGACTGGA[C/T]GCTTGGAAGGTGGGT | 64219 |
rs188751144 | snp | C/T | 0.0068637 | 0.0581785 | intron-variant | PJA1 | GRCh38.p7 | X:69164909 | TTTTCCTTCCAATTT[C/T]TTCCCTGGGAACAGT | 64219 |
rs189968793 | snp | C/T | 2.2872e-05 | 0.00338164 | missense | PJA1 | GRCh38.p7 | X:69162112 | CTTCGATATTTCCGA[C/T]GCAGAGCAGCAATCC | 64219 |
rs190011418 | snp | C/G | 0.000529661 | 0.016265 | synonymous-codon | PJA1 | GRCh38.p7 | X:69161547 | TGCTGGTGGATTGGC[C/G]ACCTCTACATCCACT | 64219 |
rs190016465 | snp | A/T | 0.00370173 | 0.0428621 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69165708 | AGCTATATTGCCTTC[A/T]GGTTTTTTAATAAAT | 64219 |
rs190328778 | snp | C/T | 0.000529661 | 0.016265 | upstream-variant-2KB | PJA1 | GRCh38.p7 | X:69165922 | TGTTGAATTTGTTGC[C/T]GCTAATCACAAAACC | 64219 |