SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs10376 | snp | A/C | 0.162909 | 0.23434 | utr-variant-3-prime | SF3A1 | GRCh38.p7 | 22:30332367 | TGACTTAAGTCCCAC[A/C]CCACCTGTTTTCCCA | 10291 |
rs12571 | snp | A/G | 0 | 0 | missense | SF3A1 | GRCh38.p7 | 22:30334610 | CCCTCAAGGAGAGAG[A/G]CGGGAGGAAGAAGTA | 10291 |
rs737949 | snp | A/G | 0 | 0 | intron-variant | SF3A1 | GRCh38.p7 | 22:30344795 | AAGGTTTTACATTAA[A/G]CTGGGATTCAAAACA | 10291 |
rs740220 | snp | A/G | 0.260227 | 0.249791 | intron-variant | SF3A1 | GRCh38.p7 | 22:30338613 | CTTGATCTGTTTGTG[A/G]AGGAGGGTTGGAACA | 10291 |
rs740221 | snp | G/T | 0.35894 | 0.225016 | intron-variant | SF3A1 | GRCh38.p7 | 22:30346634 | GCTCAAACCAGCCCA[G/T]CCCTCAGCAGACGTC | 10291 |
rs1045784 | snp | C/T | 0 | 0 | utr-variant-3-prime | SF3A1 | GRCh38.p7 | 22:30334394 | GAGTAGCTGGGTTTT[C/T]TAAGCCACTCTCTGG | 10291 |
rs1062349 | snp | A/G | | | utr-variant-3-prime | SF3A1 | GRCh38.p7 | 22:30332379 | TTGCAGGACTGCTGG[A/G]AAAACAGGTGGGGTG | 10291 |
rs1548626 | snp | C/T | | | downstream-variant-500B | SF3A1 | GRCh38.p7 | 22:30331672 | gtgcaatggtgctat[C/T]tcagctcaccacaac | 10291 |
rs2041199 | snp | A/G | 0.162581 | 0.234218 | intron-variant | SF3A1 | GRCh38.p7 | 22:30336247 | AAACAGAGCGGGTGC[A/G]GTGGCTCACACCTGT | 10291 |
rs2074731 | snp | A/C | 0.36116 | 0.223927 | intron-variant | SF3A1 | GRCh38.p7 | 22:30337925 | GAGACCCACAGATTA[A/C]AGGAAGCCAAAGTTG | 10291 |
rs2074732 | snp | A/G | 0.473334 | 0.112346 | intron-variant | SF3A1 | GRCh38.p7 | 22:30340158 | AGATGGCTGTAATTC[A/G]GAGACTACCATGGGC | 10291 |
rs2074733 | snp | C/T | 0.499265 | 0.0191552 | intron-variant | SF3A1 | GRCh38.p7 | 22:30342598 | GAAAAGAGGGAGATA[C/T]ATTGAGGCTGAGAGC | 10291 |
rs2108094 | snp | G/T | 0 | 0 | utr-variant-3-prime | SF3A1 | GRCh38.p7 | 22:30333749 | TTATCAAATCCTTGG[G/T]ACATGACCTTAATAC | 10291 |
rs2229807 | snp | G/T | 0.316048 | 0.241118 | synonymous-codon | SF3A1 | GRCh38.p7 | 22:30337122 | CCCAATGCCCCCTGT[G/T]CATCCCCCACCTCCC | 10291 |
rs2240420 | snp | C/T | 0.260227 | 0.249791 | intron-variant | SF3A1 | GRCh38.p7 | 22:30335077 | GAAGAAGAACATTAA[C/T]GCCTCCATGTGACCT | 10291 |
rs2240423 | snp | A/C | 0 | 0 | missense | SF3A1 | GRCh38.p7 | 22:30340347 | GGACACAAGATACTC[A/C]TCTGGAGCAGGGGCT | 10291 |
rs2283865 | snp | A/G | 0.461703 | 0.132974 | upstream-variant-2KB, intron-variant | CCDC157, SF3A1 | GRCh38.p7 | 22:30354918 | GACAGAACGACACCC[A/G]GTCTCTTAAAAAAAA | 10291 |
rs2283866 | snp | C/G | 0.362523 | 0.223246 | upstream-variant-2KB, intron-variant | CCDC157, SF3A1 | GRCh38.p7 | 22:30355197 | tttttatttttagta[C/G]agacagttttgctat | 10291 |
rs2839998 | snp | A/G | 0.331642 | 0.236293 | utr-variant-3-prime | SF3A1 | GRCh38.p7 | 22:30333518 | TCCCTGTGATAGCTT[A/G]ATTCTAAAGATAACA | 10291 |
rs3067186 | in-del | -/GGGAG | | | intron-variant | SF3A1 | GRCh38.p7 | 22:30345254 | TCCAGGGGAGGGGAG[-/GGGAG]GGGACATGGGCATGC | 10291 |
rs3171603 | snp | C/T | 0.0198 | 0.0975087 | utr-variant-3-prime | SF3A1 | GRCh38.p7 | 22:30334337 | TGAGGACATTCATTT[C/T]TTCAGCAGCCCATTA | 10291 |
rs4339043 | snp | A/G | 0.162581 | 0.234218 | intron-variant | SF3A1 | GRCh38.p7 | 22:30339919 | GTACTCCAGCCATCA[A/G]TGCTCTCCTTCTAAA | 10291 |
rs4390846 | snp | A/G | 0.259951 | 0.249802 | intron-variant | SF3A1 | GRCh38.p7 | 22:30347412 | AAACATCCTCAGCAA[A/G]AACCCAGACTCGTAC | 10291 |
rs4820005 | snp | C/T | 0.261884 | 0.249717 | intron-variant | SF3A1 | GRCh38.p7 | 22:30348515 | TTTTTTTAAGACAGA[C/T]GGCAGGAGACAGGGT | 10291 |
rs4820006 | snp | A/T | 0.259951 | 0.249802 | intron-variant | SF3A1 | GRCh38.p7 | 22:30348637 | TCATACCCTGCCGTG[A/T]AACTAACACCATGAG | 10291 |
rs4820007 | snp | A/G | 0.259951 | 0.249802 | intron-variant | SF3A1 | GRCh38.p7 | 22:30348669 | TCTCAATTTGACAGT[A/G]TATTAGTCTAACTGG | 10291 |
rs4820008 | snp | C/G | 0.162581 | 0.234218 | intron-variant | SF3A1 | GRCh38.p7 | 22:30353352 | TATGGTATGAGACCA[C/G]CACTTCTCCTGTTGT | 10291 |
rs4820834 | snp | A/G | 0.0879971 | 0.190408 | upstream-variant-2KB, intron-variant | CCDC157, SF3A1 | GRCh38.p7 | 22:30355638 | CCACTACGCTCCTAA[A/G]TCTATGCTTCAACAC | 10291 |
rs5749063 | snp | A/G | 0.315322 | 0.241315 | intron-variant | SF3A1 | GRCh38.p7 | 22:30334722 | ACAGCGTGCCTTAGC[A/G]TGGGGCAACCCAGCC | 10291 |
rs5749066 | snp | A/G | 0.162909 | 0.23434 | intron-variant | SF3A1 | GRCh38.p7 | 22:30340922 | CCTCTGCCAGCCAGC[A/G]TCCATGTGCTAAGCC | 10291 |
rs5749067 | snp | C/T | 0.259951 | 0.249802 | intron-variant | SF3A1 | GRCh38.p7 | 22:30341012 | GGAGTGCTGAGGCCA[C/T]GGTCCTAGCACTCCT | 10291 |
rs5749068 | snp | C/T | 0.0988009 | 0.199095 | intron-variant | SF3A1 | GRCh38.p7 | 22:30341026 | ACGGTCCTAGCACTC[C/T]TCCCAGGCATTTCCA | 10291 |
rs5749071 | snp | A/C | 0.0973687 | 0.197999 | intron-variant | SF3A1 | GRCh38.p7 | 22:30346136 | AGTGCTCGGGAAATG[A/C]CAACTAACATCAGTA | 10291 |
rs5753073 | snp | A/G | 0.260227 | 0.249791 | utr-variant-3-prime | SF3A1 | GRCh38.p7 | 22:30332895 | GGGGGTGAGTGCCCT[A/G]ACACCATGAACTGCC | 10291 |
rs5753078 | snp | C/T | 0.259951 | 0.249802 | intron-variant | SF3A1 | GRCh38.p7 | 22:30342014 | GGCCCATCTAGGGTC[C/T]GGCAAGTACGTATTG | 10291 |
rs5753080 | snp | A/G | 0.162909 | 0.23434 | intron-variant | SF3A1 | GRCh38.p7 | 22:30342748 | CAGAGACTGTTTTCA[A/G]ACATAAAACAGAACC | 10291 |
rs5753081 | snp | C/T | 0.00755907 | 0.0610114 | intron-variant | SF3A1 | GRCh38.p7 | 22:30344664 | AAGCAGCAAGCACCA[C/T]GTGGCCTTGTCACAT | 10291 |
rs5753082 | snp | C/G | 0.252702 | 0.249985 | intron-variant | SF3A1 | GRCh38.p7 | 22:30345935 | AGGAGGAGCCCACAG[C/G]CCACACTGCATCCTT | 10291 |
rs5753083 | snp | C/G | 0.463451 | 0.130149 | intron-variant | SF3A1 | GRCh38.p7 | 22:30348455 | CATACCCAAGCCTGG[C/G]CAACAAAATGAAATT | 10291 |
rs5753086 | snp | A/T | | | intron-variant | SF3A1 | GRCh38.p7 | 22:30350313 | AAAAACTAAAAAAAA[A/T]AAAAAAAATAAAAAA | 10291 |
rs5753088 | snp | A/G | 0.163236 | 0.234461 | intron-variant | SF3A1 | GRCh38.p7 | 22:30350415 | TGAGCCCAGGAGTTC[A/G]AGGCTGCAGTGAGCT | 10291 |
rs5844903 | in-del | -/C | 0.260227 | 0.249791 | intron-variant | SF3A1 | GRCh38.p7 | 22:30338638 | ATCAAGAGAGAGGTT[-/C]CCACTTGCATTTAAA | 10291 |
rs5994293 | snp | G/T | 0.485355 | 0.0843086 | utr-variant-5-prime, intron-variant, upstream-variant-2KB | CCDC157, SF3A1 | GRCh38.p7 | 22:30356707 | ACCCTCCGGCTGCAG[G/T]CTGAGGGGCGGGGGA | 10291 |
rs5997618 | snp | C/T | 0.00716266 | 0.059414 | upstream-variant-2KB, intron-variant | CCDC157, SF3A1 | GRCh38.p7 | 22:30355899 | tggatgaataaaGGA[C/T]GCTATTTCCCTTCCC | 10291 |
rs5997619 | snp | C/T | 0.0209421 | 0.100162 | upstream-variant-2KB, intron-variant | CCDC157, SF3A1 | GRCh38.p7 | 22:30356378 | GGCGGCCCCAACTGC[C/T]ACATAAGATCAGAGG | 10291 |
rs7288947 | snp | C/T | 0.259674 | 0.249813 | intron-variant | SF3A1 | GRCh38.p7 | 22:30349232 | ATGCCTGCTTTAACT[C/T]GGATATTGGTCTCTT | 10291 |
rs7289270 | snp | A/T | | | intron-variant | SF3A1 | GRCh38.p7 | 22:30343513 | ACAGCTTCTACTGCC[A/T]CTGGCAAAGTGGCTC | 10291 |
rs8136826 | snp | A/C | 0.259951 | 0.249802 | intron-variant | SF3A1 | GRCh38.p7 | 22:30352285 | CATGGAACTGTGGGG[A/C]GAGAGAGGATCTCTG | 10291 |
rs8137497 | snp | A/G | 0.0422008 | 0.138995 | intron-variant | SF3A1 | GRCh38.p7 | 22:30338050 | TGTGGCCTACACTGG[A/G]CGTCCAATAGGAACT | 10291 |
rs8140116 | snp | A/G | 0.0858192 | 0.188533 | intron-variant, upstream-variant-2KB | CCDC157, SF3A1 | GRCh38.p7 | 22:30358049 | CCTACCTCGAATCCC[A/G]CCGGCTTCTCTCCCT | 10291 |
rs8140562 | snp | A/G | 0.219947 | 0.248187 | intron-variant | SF3A1 | GRCh38.p7 | 22:30351168 | cctgggcgtggtggc[A/G]cacgcctgttgtccc | 10291 |
rs8141114 | snp | C/G | 0 | 0 | intron-variant | SF3A1 | GRCh38.p7 | 22:30337278 | TTGCAAAGGTTTCCT[C/G]TAGTCAGAGGTGTCA | 10291 |
rs8141656 | snp | C/T | 0.332106 | 0.236133 | intron-variant | SF3A1 | GRCh38.p7 | 22:30344159 | GGTCTGGAGTAAAAA[C/T]GCCAGAGCTCAAGCC | 10291 |
rs9606716 | snp | A/G | 0.0123036 | 0.0774623 | utr-variant-3-prime | SF3A1 | GRCh38.p7 | 22:30332464 | TCCCCAGGAAGGGAT[A/G]AGCTGCTTTGGCTTT | 10291 |
rs9606717 | snp | C/T | 0.0275645 | 0.114116 | utr-variant-3-prime | SF3A1 | GRCh38.p7 | 22:30332851 | TCACAGCCTCAGCCA[C/T]GGAAGTCCTGCAGGG | 10291 |
rs9606718 | snp | C/T | | | intron-variant | SF3A1 | GRCh38.p7 | 22:30338365 | tgggaggctgaggca[C/T]gagaatcacttgaac | 10291 |
rs9606719 | snp | C/T | 0.0543475 | 0.155628 | intron-variant | SF3A1 | GRCh38.p7 | 22:30339639 | TGCGTGCCTGTAATC[C/T]CAGCTACTTGGGAGG | 10291 |
rs9606720 | snp | C/G | 0.0298908 | 0.118541 | intron-variant | SF3A1 | GRCh38.p7 | 22:30351125 | CCAACACGGTGAAAC[C/G]ACGTCTCTACTAAAA | 10291 |
rs9608883 | snp | A/G | 0.0362201 | 0.129608 | intron-variant | SF3A1 | GRCh38.p7 | 22:30335621 | GCTTGGTTCCCATGC[A/G]CCTGATGCCAGTTTC | 10291 |
rs9608884 | snp | C/G | 0.0298908 | 0.118541 | intron-variant | SF3A1 | GRCh38.p7 | 22:30336965 | AGTTTCGCAAGTGTA[C/G]GACAGGGGCGGGACT | 10291 |
rs9608885 | snp | C/T | 0.445606 | 0.15581 | intron-variant | SF3A1 | GRCh38.p7 | 22:30342172 | GAGTTCCTGGCTCCC[C/T]ATCTGGAGTCACTCC | 10291 |
rs9608886 | snp | G/T | 0.0298908 | 0.118541 | intron-variant | SF3A1 | GRCh38.p7 | 22:30343405 | ACAGGGATTTCTCTT[G/T]TGTTCACGATTACAT | 10291 |
rs9608887 | snp | C/T | 0.0283406 | 0.115616 | intron-variant | SF3A1 | GRCh38.p7 | 22:30349321 | AGTCTCGCTCCGTCA[C/T]CCAGGTGGGAGTGCA | 10291 |
rs9608888 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | SF3A1 | GRCh38.p7 | 22:30353719 | aggaatttctttttc[C/G]gggagctcggctctt | 10291 |
rs9619098 | snp | C/T | 0.339656 | 0.233371 | intron-variant | SF3A1 | GRCh38.p7 | 22:30345899 | CCTGGGAAGAAGAGA[C/T]AGAAGGGAAGGGATG | 10291 |
rs10427610 | snp | A/G | 0.162909 | 0.23434 | intron-variant | SF3A1 | GRCh38.p7 | 22:30352229 | AGACAGGAGGAACTC[A/G]GAGCAATACCCATTC | 10291 |
rs11089445 | snp | A/G | 0.147871 | 0.228188 | intron-variant | SF3A1 | GRCh38.p7 | 22:30339058 | GAAAGCAAAGCCACA[A/G]TGCTTCTGGAACTAA | 10291 |
rs11442423 | in-del | -/A | | | intron-variant | SF3A1 | GRCh38.p7 | 22:30338474 | AAAAAAAAAAAAAAA[-/A]GAGGCCGAGACCTCG | 10291 |
rs11451197 | in-del | -/C/CC | | | upstream-variant-2KB, intron-variant | CCDC157, SF3A1 | GRCh38.p7 | 22:30355816 | ATGTTCCCCCCCCCC[-/C/CC]GCCCCCCTTATTCTG | 10291 |
rs11550685 | snp | C/T | | | stop-gained | SF3A1 | GRCh38.p7 | 22:30335687 | TGGAAACTGAATGGG[C/T]AGGTGCTGGTCTTCA | 10291 |
rs11550686 | snp | C/T | | | utr-variant-5-prime, missense, upstream-variant-2KB | CCDC157, SF3A1 | GRCh38.p7 | 22:30356779 | TCATGCCGGCCGGAC[C/T]CGTGCAGGCGGTGCC | 10291 |
rs11550687 | snp | A/G | 4.97385e-05 | 0.00498666 | synonymous-codon | SF3A1 | GRCh38.p7 | 22:30342874 | TGTATTTCAGATCTT[A/G]ATTCCACCCAAAGGT | 10291 |
rs11704187 | snp | C/G | 0 | 0 | intron-variant | SF3A1 | GRCh38.p7 | 22:30340849 | GGACTCAGAGAGGGG[C/G]TGAGGCCACCTCCCT | 10291 |
rs11705056 | snp | C/T | 0.0755793 | 0.179102 | intron-variant | SF3A1 | GRCh38.p7 | 22:30334756 | GGGATACCGCTGCAA[C/T]CTTACAACTGTGCAC | 10291 |
rs11912350 | snp | C/T | 0.259951 | 0.249802 | intron-variant | SF3A1 | GRCh38.p7 | 22:30352038 | CCATTCCATCTGAGG[C/T]GGCGGCTAGCACCTG | 10291 |
rs11913885 | snp | A/G | 0.259951 | 0.249802 | intron-variant | SF3A1 | GRCh38.p7 | 22:30351075 | GGAGGCCCAGGTCGG[A/G]GGATCATTAAGTCAA | 10291 |
rs12157573 | snp | G/T | 0 | 0 | intron-variant | SF3A1 | GRCh38.p7 | 22:30336004 | AACTGAAGAACTTTA[G/T]TGAAAATACTCTGCA | 10291 |
rs12157616 | snp | G/T | 0 | 0 | intron-variant | SF3A1 | GRCh38.p7 | 22:30336077 | TGGATTCCCAACTCA[G/T]CTTCCCAGCTAACAA | 10291 |
rs12159316 | snp | A/T | 0.00716266 | 0.059414 | intron-variant | SF3A1 | GRCh38.p7 | 22:30340929 | CAGCCAGCGTCCATG[A/T]GCTAAGCCTCCCAGG | 10291 |
rs12167163 | snp | C/G | 0 | 0 | intron-variant, upstream-variant-2KB | CCDC157, SF3A1 | GRCh38.p7 | 22:30358145 | Gaacctgttcctgga[C/G]ttcagtttcctcacc | 10291 |
rs12169570 | snp | A/C | 0 | 0 | utr-variant-3-prime | SF3A1 | GRCh38.p7 | 22:30332893 | GTGGGGGTGAGTGCC[A/C]TAACACCATGAACTG | 10291 |
rs12484880 | snp | G/T | 0.16846 | 0.236329 | upstream-variant-2KB, intron-variant | CCDC157, SF3A1 | GRCh38.p7 | 22:30355464 | GGCCTTCAGCCTCTT[G/T]GGAATAGCGTGACTG | 10291 |
rs13053375 | snp | A/C | 0.261884 | 0.249717 | utr-variant-5-prime, upstream-variant-2KB | CCDC157, SF3A1 | GRCh38.p7 | 22:30356953 | TTCCGGGACCGTCCC[A/C]TCGCCGTGACGCGCT | 10291 |
rs13056326 | snp | A/G | 0.259951 | 0.249802 | intron-variant | SF3A1 | GRCh38.p7 | 22:30337307 | CAAGTGCTGTTCCCT[A/G]CTAAGTCTGGCAGCC | 10291 |
rs13057861 | snp | A/G | 0.260227 | 0.249791 | intron-variant | SF3A1 | GRCh38.p7 | 22:30340570 | AAACCTGTAACAGAC[A/G]GGCTTGCAATGCTTT | 10291 |
rs17657174 | snp | C/G | 0.260227 | 0.249791 | intron-variant | SF3A1 | GRCh38.p7 | 22:30335398 | TTTTAGCTTCCATGA[C/G]AGATTTAGCTTCTGT | 10291 |
rs17657653 | snp | A/C | 0.261608 | 0.24973 | upstream-variant-2KB, intron-variant | CCDC157, SF3A1 | GRCh38.p7 | 22:30356352 | GCCATTACTGGGGAA[A/C]GGCTGTGGCCGGCGG | 10291 |
rs17657701 | snp | A/G | 0.259951 | 0.249802 | intron-variant, upstream-variant-2KB | CCDC157, SF3A1 | GRCh38.p7 | 22:30357996 | CCCTCACTCTCACAG[A/G]TGCAGCCCTGCAAGC | 10291 |
rs17730485 | snp | C/T | 0.260227 | 0.249791 | intron-variant | SF3A1 | GRCh38.p7 | 22:30337429 | CCAAGCAACAAGCAT[C/T]TCTCAGGCCTCTGAG | 10291 |
rs17730538 | snp | C/T | 0.260227 | 0.249791 | intron-variant | SF3A1 | GRCh38.p7 | 22:30338727 | GCACTTCTCAGCCAA[C/T]AGTGTCCGACCTCAA | 10291 |
rs17730748 | snp | A/G | 0.0861826 | 0.188849 | intron-variant | SF3A1 | GRCh38.p7 | 22:30350606 | CAGGGCATTATGAAG[A/G]CCATGGAGCAAAATG | 10291 |
rs17730978 | snp | C/T | 0.0520825 | 0.152737 | intron-variant, upstream-variant-2KB | CCDC157, SF3A1 | GRCh38.p7 | 22:30358377 | TGAGGACAGTGAAGT[C/T]TGGAGTTGGTAGAGT | 10291 |
rs28413856 | snp | G/T | | | utr-variant-5-prime, upstream-variant-2KB | CCDC157, SF3A1 | GRCh38.p7 | 22:30356934 | GAAGGTACGACTGGC[G/T]CACTTCCGGGACCGT | 10291 |
rs28533620 | snp | G/T | | | intron-variant | SF3A1 | GRCh38.p7 | 22:30339976 | AGCCAGAGCTTGCTC[G/T]GGGATGTCAACAGGC | 10291 |
rs28627777 | snp | C/G | | | utr-variant-5-prime, intron-variant, upstream-variant-2KB | CCDC157, SF3A1 | GRCh38.p7 | 22:30356716 | CTGCAGGCTGAGGGG[C/G]GGGGGAGAGGTACCT | 10291 |
rs34244534 | snp | G/T | 0.0688912 | 0.172338 | synonymous-codon | SF3A1 | GRCh38.p7 | 22:30341782 | CTCCTCATCAGACTC[G/T]ACCTCCATCTCAACT | 10291 |
rs34428744 | in-del | -/A | | | utr-variant-3-prime | SF3A1 | GRCh38.p7 | 22:30332286 | TAGTGGGTAGAACTG[-/A]AAAGTGAAATTCCTT | 10291 |
rs34456624 | in-del | -/G | | | intron-variant | SF3A1 | GRCh38.p7 | 22:30343701 | GGGACCTTTAACCCT[-/G]GGAAGCAGTCCACTG | 10291 |
rs34505551 | in-del | -/CTAG | 0.259951 | 0.249802 | intron-variant | SF3A1 | GRCh38.p7 | 22:30344191 | CAGCCCTGCCACCTC[-/CTAG]CTATGTGACCCTGGC | 10291 |
rs34879963 | in-del | -/C | | | intron-variant | SF3A1 | GRCh38.p7 | 22:30345613 | GAGGTAGCACAGGTA[-/C]CTGTGAATCCTCTTT | 10291 |