SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs476182 | snp | A/G | 0.125528 | 0.21681 | intron-variant | PRPF19 | GRCh38.p7 | 11:60901725 | tgtaaaataaaggtc[A/G]tcaacacccccctca | 27339 |
rs482584 | snp | A/G | 0.196149 | 0.244131 | intron-variant | PRPF19 | GRCh38.p7 | 11:60896926 | ttcttttgtaataac[A/G]tttaacttaaaacta | 27339 |
rs528741 | snp | A/G | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60893493 | tgggagacagagcaa[A/G]actctgtctcaaaaa | 27339 |
rs540300 | snp | C/T | 0.195837 | 0.244062 | intron-variant, upstream-variant-2KB | PRPF19, LOC107984333 | GRCh38.p7 | 11:60905973 | tgggcctcggtttcc[C/T]catctgcaaaatcga | 27339 |
rs555113 | snp | A/T | 0.0905309 | 0.192535 | intron-variant, upstream-variant-2KB | PRPF19, LOC107984333 | GRCh38.p7 | 11:60904669 | tacctcatcctatgc[A/T]cctcttcatctgtat | 27339 |
rs688638 | snp | C/G | 0.40386 | 0.197046 | intron-variant | PRPF19 | GRCh38.p7 | 11:60900032 | TTGGTTTAGTGCTTC[C/G]CAGTCAAGATTTCCC | 27339 |
rs1064529 | snp | C/T | 0 | 0 | utr-variant-3-prime | PRPF19 | GRCh38.p7 | 11:60890705 | CCTCCCCGTGTCTGT[C/T]TGCACCAGGAGCACC | 27339 |
rs1064530 | snp | A/C | 0.00199481 | 0.0315187 | utr-variant-3-prime | PRPF19 | GRCh38.p7 | 11:60890656 | GGGGAGGGAGCACAC[A/C]CTGGGACACTGGCTT | 27339 |
rs1064531 | snp | A/C | 0 | 0 | utr-variant-3-prime | PRPF19 | GRCh38.p7 | 11:60890648 | AGCACACACTGGGAC[A/C]CTGGCTTCCGGGAAG | 27339 |
rs1236521 | snp | A/G | 0.497445 | 0.0356514 | upstream-variant-2KB, intron-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60907558 | accttctgagtgtgt[A/G]tgtgtgtgtgtgtgt | 27339 |
rs1238771 | snp | A/G | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60893435 | ctcactgcaacctcc[A/G]cctcctgggttcaag | 27339 |
rs1634660 | snp | C/T | 0 | 0 | upstream-variant-2KB, intron-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60907655 | ttggactgagctctt[C/T]tgctaggcctaacag | 27339 |
rs1804972 | snp | C/T | 0.0271474 | 0.113299 | utr-variant-3-prime | PRPF19 | GRCh38.p7 | 11:60890829 | CTTGGCTCAGCCTCT[C/T]CTGTCTCACAGGAAC | 27339 |
rs2240045 | snp | A/G | 0.416545 | 0.186448 | intron-variant | PRPF19 | GRCh38.p7 | 11:60903374 | GGTAGGAAGGATGGA[A/G]CATTATTTAGAGGGT | 27339 |
rs2868245 | snp | A/G | 0.426354 | 0.177198 | upstream-variant-2KB, intron-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60908445 | cactctactgtgggt[A/G]gtgggagcacagaga | 27339 |
rs3750984 | snp | C/T | 0.000107318 | 0.00732444 | synonymous-codon | PRPF19 | GRCh38.p7 | 11:60899158 | TCTCCTGAGCTCCTC[C/T]GATGATCAGGTGCGG | 27339 |
rs3763840 | snp | C/T | 0.490614 | 0.0678606 | synonymous-codon | PRPF19 | GRCh38.p7 | 11:60898869 | GACAGATGAGACCTC[C/T]GGCTGCTGTAAGTTG | 27339 |
rs3763841 | snp | A/C | 0.466803 | 0.124554 | intron-variant | PRPF19 | GRCh38.p7 | 11:60898644 | TCTGACCACAGGTCT[A/C]TCTTCCCTCCTCCAC | 27339 |
rs3885382 | snp | A/G | 0.427879 | 0.175668 | intron-variant | PRPF19 | GRCh38.p7 | 11:60897090 | ttcagtgagtgagtt[A/G]tgagtgaatgtgaag | 27339 |
rs3973146 | snp | A/T | 0.459801 | 0.135955 | intron-variant | PRPF19 | GRCh38.p7 | 11:60896912 | tgtacaatgtgtttt[A/T]gttttaagttaaatg | 27339 |
rs4643097 | snp | A/C | 0 | 0 | intron-variant | PRPF19 | GRCh38.p7 | 11:60902546 | TGTGGGCCACTGTAC[A/C]CAAATGGGCTGCTGG | 27339 |
rs4938990 | snp | C/G | 0.459914 | 0.13578 | intron-variant | PRPF19 | GRCh38.p7 | 11:60896406 | gttaggctttgtgcc[C/G]ccacccaaatctcat | 27339 |
rs4939473 | snp | C/G | 0.418491 | 0.184691 | intron-variant | PRPF19 | GRCh38.p7 | 11:60895937 | acatttcatggtgcc[C/G]ccccgcccaacaatt | 27339 |
rs4939474 | snp | A/G | 0.498459 | 0.0277128 | intron-variant | PRPF19 | GRCh38.p7 | 11:60896157 | aaatacaataaagct[A/G]agtgcaataagacaa | 27339 |
rs4939475 | snp | C/T | 0.459233 | 0.136827 | upstream-variant-2KB, nc-transcript-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60907105 | CAAAATCACAACAAA[C/T]TTAGTTCAAAGATTT | 27339 |
rs7101998 | snp | C/T | 0.0883596 | 0.190715 | intron-variant | PRPF19 | GRCh38.p7 | 11:60901618 | CTGGTCACACCTGTG[C/T]TTTCAAAAGCAGCAC | 27339 |
rs7103828 | snp | C/T | 0.0905309 | 0.192535 | intron-variant | PRPF19 | GRCh38.p7 | 11:60897068 | agcgtacagtaatgt[C/T]ctaggccttcacatt | 27339 |
rs7105089 | snp | C/T | 0.298905 | 0.24517 | intron-variant | PRPF19 | GRCh38.p7 | 11:60892680 | GGCACGCTGAGGGCT[C/T]TGAACCAAGGTCTCT | 27339 |
rs7116665 | snp | A/C | 0.414245 | 0.188477 | intron-variant | PRPF19 | GRCh38.p7 | 11:60892685 | GCTGAGGGCTTTGAA[A/C]CAAGGTCTCTCTGAC | 27339 |
rs7479479 | snp | C/G | 0 | 0 | intron-variant | PRPF19 | GRCh38.p7 | 11:60902292 | cccagggtccatgct[C/G]tgcaccactCAACTC | 27339 |
rs7927662 | snp | C/T | 0.0763149 | 0.179815 | intron-variant | PRPF19 | GRCh38.p7 | 11:60892465 | cagacggtccccgat[C/T]taccatggttcaact | 27339 |
rs7928208 | snp | A/G | 0.417034 | 0.18601 | intron-variant | PRPF19 | GRCh38.p7 | 11:60900435 | AAGGGCAATCTCCAC[A/G]ACTCCAAAGTGAGCC | 27339 |
rs7933251 | snp | A/G | 0.0234686 | 0.105752 | synonymous-codon | PRPF19 | GRCh38.p7 | 11:60898598 | TCCAAAGATGAGTCC[A/G]TCAGGGTGGAACTGT | 27339 |
rs7948169 | snp | C/T | 0.125528 | 0.21681 | intron-variant | PRPF19 | GRCh38.p7 | 11:60897962 | TTTACCTGCCAGAAA[C/T]AGAAAGAGAGAAGGT | 27339 |
rs7948261 | snp | C/T | 0.0178932 | 0.0928786 | intron-variant | PRPF19 | GRCh38.p7 | 11:60898000 | GGGGAACAGAAACTA[C/T]GGGGCAGTTGCGGAT | 27339 |
rs11230515 | snp | A/G | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60896979 | GTAAAAGTCAGCTAA[A/G]GCTTATTACTGAAGA | 27339 |
rs11230516 | snp | A/G | 0.0193772 | 0.0965046 | intron-variant | PRPF19 | GRCh38.p7 | 11:60900211 | TTACCCATCTTGGAG[A/G]ATCATGGGAAAGCAG | 27339 |
rs11282286 | in-del | -/GCTTCCCTG/GCTTCCCTGC/GCTTCCCTT | | | upstream-variant-2KB, nc-transcript-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60907067 | GGGCAATTCACATTG[lengthTooLong]CCCTTTCTTCTTTGT | 27339 |
rs11426757 | in-del | -/A | 0 | 0 | utr-variant-3-prime | PRPF19 | GRCh38.p7 | 11:60890600 | AAAAAAAAAAAAAAA[-/A]GGGTAAGAGCTGTGA | 27339 |
rs11550312 | snp | A/G | | | missense | PRPF19 | GRCh38.p7 | 11:60903720 | AGGAGCAGCTCATCG[A/G]CATCAAAGTTGCTCA | 27339 |
rs11820325 | snp | A/G | 0 | 0 | intron-variant | PRPF19 | GRCh38.p7 | 11:60899073 | AACCAGCTGGGGTGG[A/G]AAGATGTTCCTGCCA | 27339 |
rs11823331 | snp | G/T | 0.089084 | 0.191327 | intron-variant | PRPF19 | GRCh38.p7 | 11:60891631 | TTTTCTAGCTCATAG[G/T]GTTCCAACCCCAGGG | 27339 |
rs12576127 | snp | C/T | 0.450483 | 0.149354 | intron-variant | PRPF19 | GRCh38.p7 | 11:60893525 | aaaaaaagtataaca[C/T]aattaggtacagtac | 27339 |
rs17155466 | snp | A/G | 0.0587811 | 0.161044 | intron-variant | PRPF19 | GRCh38.p7 | 11:60900561 | AAAGAAGAACCAAGG[A/G]TGGCGAGGAGAACCC | 27339 |
rs17155470 | snp | A/G | 0.494459 | 0.0523411 | utr-variant-5-prime, upstream-variant-2KB | PRPF19, LOC107984333 | GRCh38.p7 | 11:60906396 | GTGGCGCCTCGGAGC[A/G]CGGTGACGGCGCCAT | 27339 |
rs28394208 | snp | A/C | | | intron-variant, upstream-variant-2KB | PRPF19, LOC107984333 | GRCh38.p7 | 11:60905274 | CGGTAAACATCTAAC[A/C]AATGAGTGAACCATG | 27339 |
rs28580755 | snp | A/C | | | intron-variant, upstream-variant-2KB | PRPF19, LOC107984333 | GRCh38.p7 | 11:60905273 | TCGGTAAACATCTAA[A/C]AAATGAGTGAACCAT | 27339 |
rs34059655 | snp | A/C | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60893464 | AGCCAAGACCATGCC[A/C]TTGCACTCCAGCCTG | 27339 |
rs34102152 | snp | A/C | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60893504 | GCAAGACTCAATCTC[A/C]AAAAAAAAAAAAGTA | 27339 |
rs34169423 | in-del | -/A | | | upstream-variant-2KB, intron-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60907521 | ATTTAGCTCCCCCCT[-/A]CACACACACACACAC | 27339 |
rs34188076 | in-del | -/G | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60901196 | CAGCGCCAGGAACCT[-/G]GGGACAGCTCTGCAC | 27339 |
rs34531906 | in-del | -/C | | | intron-variant, upstream-variant-2KB | PRPF19, LOC107984333 | GRCh38.p7 | 11:60906256 | TCGGCCTCCGGAGCG[-/C]CCCCATTCCCGCCTC | 27339 |
rs34579849 | snp | A/C | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60893495 | GGTGACAGAGCAAGA[A/C]TCAATCTCAAAAAAA | 27339 |
rs34870548 | in-del | -/G | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60897706 | TCAGTTGCTTCCTTA[-/G]TCATAAAGCTCTGCC | 27339 |
rs35150193 | in-del | -/A | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60893793 | AACCCCGTCTCTACT[-/A]AAAATACAAAAATTA | 27339 |
rs35366355 | in-del | -/C | | | upstream-variant-2KB, intron-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60907522 | TTTAGCTCCCCCCTA[-/C]ACACACACACACACA | 27339 |
rs35711830 | in-del | -/G | 0.031825 | 0.122064 | intron-variant, upstream-variant-2KB | PRPF19, LOC107984333 | GRCh38.p7 | 11:60906210 | GCACCCCGCTCCGAC[-/G]GGGGGGGGCTCCGGT | 27339 |
rs35784935 | in-del | -/G | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60897202 | TTTACTGAACCTTTT[-/G]CTATGTTTACACTTG | 27339 |
rs35835185 | snp | A/C | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60893470 | GACCATGCCATTGCA[A/C]TCCAGCCTGGGTGAC | 27339 |
rs35967941 | in-del | -/C | | | utr-variant-3-prime | PRPF19 | GRCh38.p7 | 11:60890799 | AGCCCTCCTGCCCAT[-/C]CCCTTCACAGTTCCC | 27339 |
rs36015326 | snp | C/T | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60893501 | AGAGCAAGACTCAAT[C/T]TCAAAAAAAAAAAAA | 27339 |
rs55797447 | in-del | -/TA | | | upstream-variant-2KB, intron-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60907558 | ACACACACACACACA[-/TA]CACACTCAGAAGGTC | 27339 |
rs56362589 | in-del | -/TACA | | | upstream-variant-2KB, intron-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60907558 | ACACACACACACACA[-/TACA]CACTCAGAAGGTCGT | 27339 |
rs56955516 | in-del | -/CC | | | utr-variant-3-prime | PRPF19 | GRCh38.p7 | 11:60891104 | CCCCCACCCCCCCCC[-/CC]AAACCCTAATTCTAC | 27339 |
rs57345478 | snp | A/G | 0.00874735 | 0.0655527 | intron-variant | PRPF19 | GRCh38.p7 | 11:60891671 | CCCTAACACAGAGCA[A/G]GACCAGATAAGAGGC | 27339 |
rs58631859 | snp | C/T | 0.040671 | 0.13668 | intron-variant, upstream-variant-2KB | PRPF19, LOC107984333 | GRCh38.p7 | 11:60905895 | CTCATCATGTGACCT[C/T]TGCAAATTGCAAAAG | 27339 |
rs58963987 | snp | A/C | 0.030278 | 0.119257 | intron-variant | PRPF19 | GRCh38.p7 | 11:60892527 | AGGATGTGGCTCCAT[A/C]GTATATCAAGGAGCA | 27339 |
rs59906637 | in-del | -/A/AA | 0.5 | 0 | intron-variant | PRPF19 | GRCh38.p7 | 11:60893504 | GCAAGACTCAATCTC[-/A/AA]AAAAAAAAAAAAAGT | 27339 |
rs60698120 | in-del | -/TTACAAAGGATA | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60904645 | TTATTGTAAAGGATA[-/TTACAAAGGATA]CAGATGAAGAGGAGC | 27339 |
rs61477527 | snp | G/T | 0.0850919 | 0.187897 | upstream-variant-2KB, intron-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60908538 | AAGGTAGACAGAGGT[G/T]CTGGGGATTGGAGGA | 27339 |
rs61899178 | snp | A/C | | | utr-variant-3-prime | PRPF19 | GRCh38.p7 | 11:60891108 | CACCCCCCCCCCCAA[A/C]CCCTAATTCTACCCC | 27339 |
rs61899179 | snp | A/G | 0.5 | 0 | intron-variant | PRPF19 | GRCh38.p7 | 11:60898934 | AGAAAGCCCAGTACT[A/G]GGGAAAAAAAAAGAG | 27339 |
rs61899180 | snp | G/T | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60903312 | TGCTGCTCTCAGTGC[G/T]GGGGATACAACGAAG | 27339 |
rs71488495 | snp | A/C/G | 0.003324 | 0.0406348 | intron-variant | PRPF19 | GRCh38.p7 | 11:60902513 | AGAGCACCAAAGACA[A/C/G]CTGCATAAGGACAGT | 27339 |
rs72108463 | in-del | -/AC | | | upstream-variant-2KB, intron-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60907547 | ACACACACACACACA[-/AC]CACACACACATACAC | 27339 |
rs72195484 | in-del | -/TGGCTTCCC | | | upstream-variant-2KB, nc-transcript-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60907066 | GGGGCAATTCACATT[-/TGGCTTCCC]GCCCTTTCTTCTTTG | 27339 |
rs72916973 | snp | C/T | 0.0807149 | 0.183963 | intron-variant | PRPF19 | GRCh38.p7 | 11:60895880 | TGGTCAGAACACACA[C/T]AGCATTTCATTTATC | 27339 |
rs72916983 | snp | A/G | 0.000577162 | 0.0169779 | intron-variant | PRPF19 | GRCh38.p7 | 11:60901478 | CCAGCTCTTTCTCCA[A/G]GCTTCAGAAAGAGAA | 27339 |
rs73491090 | snp | A/G | 0.0879971 | 0.190408 | utr-variant-3-prime | PRPF19 | GRCh38.p7 | 11:60890991 | GAGTTGCATGGATGA[A/G]GGTGGTCCATGCCAC | 27339 |
rs73491093 | snp | C/T | 0.0879971 | 0.190408 | intron-variant | PRPF19 | GRCh38.p7 | 11:60891326 | AGTCTGAACACTGAT[C/T]CCTAATAACAGATTC | 27339 |
rs73491096 | snp | C/T | 0.0821764 | 0.185298 | intron-variant | PRPF19 | GRCh38.p7 | 11:60892244 | TCTCATGCTTTTCTT[C/T]TCTAGCACTTATAAT | 27339 |
rs73491099 | snp | C/T | 0.0850919 | 0.187897 | intron-variant | PRPF19 | GRCh38.p7 | 11:60894011 | TACCTTAATCAAAAA[C/T]ACTTTATTGCTAAAA | 27339 |
rs73491101 | snp | A/G | 0.0663309 | 0.169604 | intron-variant | PRPF19 | GRCh38.p7 | 11:60895082 | ATGAGCTTTGGCTTC[A/G]ATGTAAAATCACCAG | 27339 |
rs73493008 | snp | A/G | 0.0825414 | 0.185628 | intron-variant | PRPF19 | GRCh38.p7 | 11:60899813 | CAGGGAGAGAATTTC[A/G]CGTCACTCACCAATT | 27339 |
rs73493013 | snp | A/C | 0.00279162 | 0.0372561 | intron-variant | PRPF19 | GRCh38.p7 | 11:60904156 | CTAGAGAATAGCAGT[A/C]CATTATCACCACCTC | 27339 |
rs74335634 | snp | A/C | 0.00478085 | 0.0486577 | intron-variant | PRPF19 | GRCh38.p7 | 11:60893922 | AGACTCCATCTCAAA[A/C]AAAAATGTTATGTTT | 27339 |
rs74543275 | snp | C/T | 0.0189856 | 0.0955633 | intron-variant | PRPF19 | GRCh38.p7 | 11:60899500 | TAAAGTGCTAACTCA[C/T]ACAGCATCAGGGCTT | 27339 |
rs74591678 | snp | A/T | 0.00318978 | 0.0398085 | intron-variant | PRPF19 | GRCh38.p7 | 11:60892295 | TGAAATTAATCTACA[A/T]CTGCCTTACTAACCT | 27339 |
rs74836455 | snp | A/G | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60896659 | TTCCTGAGGCCTCCC[A/G]AGTCACTGTGAGTCA | 27339 |
rs75142090 | snp | A/C | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60894116 | TGTCGATGGCTGCTA[A/C]CTGACAAGGGTGGTG | 27339 |
rs76229892 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant, upstream-variant-2KB | PRPF19, LOC107984333 | GRCh38.p7 | 11:60905336 | AGAGCTTCCCGAAGA[C/T]TGGAAGGAAACAATA | 27339 |
rs76366625 | snp | C/T | 0.0240643 | 0.107019 | upstream-variant-2KB, intron-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60908283 | GTGATCCACTTTGAA[C/T]GAAATATCTATTCAT | 27339 |
rs77009549 | snp | A/C | 0.00100624 | 0.0224078 | intron-variant | PRPF19 | GRCh38.p7 | 11:60901448 | CTCCTAAGGAGTCAA[A/C]CGCCTCCCACCAGGC | 27339 |
rs77423052 | snp | C/G | 0.0554779 | 0.157039 | intron-variant | PRPF19 | GRCh38.p7 | 11:60892369 | ACTGCTCTATCCCAC[C/G]ACAGACTAAGACCCA | 27339 |
rs77451836 | snp | A/C | | | intron-variant | PRPF19 | GRCh38.p7 | 11:60894117 | GTCGATGGCTGCTAA[A/C]TGACAAGGGTGGTGT | 27339 |
rs77533626 | snp | A/G | 0.0252325 | 0.109451 | intron-variant | PRPF19 | GRCh38.p7 | 11:60903211 | TTATTGATCGCCCTC[A/G]TTGTGTCAGGCACTG | 27339 |
rs77664855 | snp | A/C/G | 0.000517679 | 0.0160817 | intron-variant | PRPF19 | GRCh38.p7 | 11:60901254 | CCCCAGAAACAAAAC[A/C/G]GGAGGGCTGTCTCCA | 27339 |
rs77719041 | snp | A/C | 0.00874735 | 0.0655527 | upstream-variant-2KB, intron-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60907725 | GATTTTGTATTTTCT[A/C]TTTCTCTTCCAGCTC | 27339 |
rs78064567 | snp | C/T | 0.0119091 | 0.0762411 | upstream-variant-2KB, nc-transcript-variant | PRPF19, LOC107984333 | GRCh38.p7 | 11:60906731 | CTACATTTCCCATGA[C/T]GCAGTGAGAATTTAA | 27339 |
rs78445117 | snp | A/T | 0.00874735 | 0.0655527 | intron-variant | PRPF19 | GRCh38.p7 | 11:60902159 | GCCTATACAGTGGAT[A/T]TGATCATATTCTCAG | 27339 |