SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs7308 | snp | A/C | 0.37138 | 0.218556 | utr-variant-3-prime | EPS15 | GRCh38.p7 | 1:51355318 | GAATTCTCTGGGTCA[A/C]CAAGTCAAGGTGGTA | 2060 |
rs12130 | snp | C/T | 0.00119737 | 0.0244387 | utr-variant-3-prime | EPS15 | GRCh38.p7 | 1:51354741 | TATTATGTTGGTCCA[C/T]GGGGTATACACATTT | 2060 |
rs17567 | snp | C/T | 0.327675 | 0.237627 | missense | EPS15 | GRCh38.p7 | 1:51361249 | GAATGGATCACAAAA[C/T]ATTTCAGGATCTTTT | 2060 |
rs947208 | snp | A/T | 0.371987 | 0.218218 | intron-variant | EPS15 | GRCh38.p7 | 1:51438456 | CAGTAAGAGCATTTT[A/T]TCTATGATGCTCTAA | 2060 |
rs1002720 | snp | G/T | 0.0501905 | 0.150254 | intron-variant | EPS15 | GRCh38.p7 | 1:51378686 | ACTACATCTCGTTAA[G/T]TATATGTATTCATAT | 2060 |
rs1002721 | snp | A/G | 0.0501905 | 0.150254 | intron-variant | EPS15 | GRCh38.p7 | 1:51378674 | TAAGTATATGTATTC[A/G]TATATATTATTATCC | 2060 |
rs1010331 | snp | A/C | 0.348574 | 0.229746 | intron-variant | EPS15 | GRCh38.p7 | 1:51515486 | caaaacaaaacaaaa[A/C]aaaaaaaaaATTCTT | 2060 |
rs1065754 | snp | C/T | 0.389844 | 0.207229 | synonymous-codon | EPS15 | GRCh38.p7 | 1:51408279 | GCAGATCTCCACTTA[C/T]GAAGAAGAATTGGCA | 2060 |
rs1105680 | snp | C/T | 0.0345262 | 0.126772 | intron-variant | EPS15 | GRCh38.p7 | 1:51371909 | tgaatttttactcta[C/T]gtttagatacataaa | 2060 |
rs1105681 | snp | C/T | 0.37138 | 0.218556 | intron-variant | EPS15 | GRCh38.p7 | 1:51372065 | caggttgtgtcagta[C/T]actttctgatgttcc | 2060 |
rs1149787 | snp | C/T | 0.0189856 | 0.0955633 | intron-variant | EPS15 | GRCh38.p7 | 1:51429462 | tattatcataaaata[C/T]acataacataaaatt | 2060 |
rs1149788 | snp | C/T | 0.0325976 | 0.123435 | intron-variant | EPS15 | GRCh38.p7 | 1:51438521 | CATTAAACAAGTACA[C/T]TTGAAGTCAAATCAA | 2060 |
rs1149789 | snp | C/T | 0.439085 | 0.163545 | intron-variant | EPS15 | GRCh38.p7 | 1:51453341 | ATTAATTTCATGTTG[C/T]CTTGAAAATAGTTTC | 2060 |
rs1275780 | snp | G/T | 0 | 0 | intron-variant | EPS15 | GRCh38.p7 | 1:51426839 | GTATATATATATATA[G/T]AGAGAGAGAGAGAGA | 2060 |
rs1275781 | snp | A/G | 0 | 0 | intron-variant | EPS15 | GRCh38.p7 | 1:51426854 | TATATATGTGTGTGT[A/G]TATATATATATATAT | 2060 |
rs1275836 | snp | C/T | 0.031825 | 0.122064 | intron-variant | EPS15 | GRCh38.p7 | 1:51495180 | AAGTAGTGACATCAC[C/T]GTGACCCTGACACAC | 2060 |
rs1275837 | snp | C/T | 0.031825 | 0.122064 | intron-variant | EPS15 | GRCh38.p7 | 1:51496533 | ACATTTATTCATCAT[C/T]TTCCCCTAGTATCAT | 2060 |
rs1275838 | snp | A/G | 0.0441095 | 0.141807 | intron-variant | EPS15 | GRCh38.p7 | 1:51462416 | TAAAGAGAGTAGTTA[A/G]GATTTGAAATATGAA | 2060 |
rs1275839 | snp | C/T | 0.0345262 | 0.126772 | intron-variant | EPS15 | GRCh38.p7 | 1:51449234 | aaaatgtggtacata[C/T]acaccatggaatact | 2060 |
rs1298733 | snp | C/T | | | intron-variant | EPS15 | GRCh38.p7 | 1:51499765 | aaatctctattcaag[C/T]ccttttctcattttt | 2060 |
rs1324666 | snp | C/T | 0.0444908 | 0.142359 | intron-variant | EPS15 | GRCh38.p7 | 1:51512103 | CACATAAATGTGAAC[C/T]TCTGAATATTTTGTG | 2060 |
rs1324667 | snp | C/G | 0.0162398 | 0.0886349 | intron-variant | EPS15 | GRCh38.p7 | 1:51452905 | aggcccaaccttgct[C/G]gttagaaaattctga | 2060 |
rs1341241 | snp | C/G | 0.0130921 | 0.0798413 | intron-variant | EPS15 | GRCh38.p7 | 1:51429116 | CCTCAAGCAATCCTC[C/G]CATCTTGGCTTCCAT | 2060 |
rs1408562 | snp | A/C | 0 | 0 | intron-variant | EPS15 | GRCh38.p7 | 1:51436162 | TACTGTGAGAGGTGG[A/C]TAAGACAGAACGGTC | 2060 |
rs1475268 | snp | A/T | 0.114738 | 0.210248 | intron-variant | EPS15 | GRCh38.p7 | 1:51455945 | TGGTTTTTTTTTTTT[A/T]AAAGTAAATTTGTAA | 2060 |
rs1475269 | snp | C/T | 0.0879971 | 0.190408 | intron-variant | EPS15 | GRCh38.p7 | 1:51455496 | ttcaatctgttcttg[C/T]gcctcagcctcctga | 2060 |
rs1802595 | snp | A/G | | | utr-variant-3-prime | EPS15 | GRCh38.p7 | 1:51355285 | GATCTGTGTTAATCT[A/G]AGTAACTTATTGCCT | 2060 |
rs1802596 | snp | G/T | | | missense, utr-variant-5-prime | EPS15 | GRCh38.p7 | 1:51471716 | GATTTAGCCGACACA[G/T]ATGGCAAAGGTATCC | 2060 |
rs1802597 | snp | G/T | | | missense, utr-variant-5-prime | EPS15 | GRCh38.p7 | 1:51472926 | CAGGCAATACTGGAA[G/T]GGTGTTGGCTTCTGA | 2060 |
rs1802598 | snp | G/T | 0.109108 | 0.206518 | utr-variant-3-prime | EPS15 | GRCh38.p7 | 1:51355374 | ACTTAGATGATGTAT[G/T]AAATACCAAGATAAA | 2060 |
rs1856922 | snp | C/T | 0 | 0 | intron-variant | EPS15 | GRCh38.p7 | 1:51383609 | agcagtacctaatgc[C/T]tgagctccgcttcct | 2060 |
rs1960844 | snp | A/C | 0.128976 | 0.218754 | intron-variant | EPS15 | GRCh38.p7 | 1:51502727 | gtgagccaccgtgcc[A/C]agcctggaattgatt | 2060 |
rs2050906 | snp | C/T | 0.371987 | 0.218218 | intron-variant | EPS15 | GRCh38.p7 | 1:51402864 | gagccaagatcacac[C/T]actgcactcaaggct | 2060 |
rs2096077 | snp | C/T | 0 | 0 | intron-variant | EPS15 | GRCh38.p7 | 1:51378822 | AGAGCTGGAAGAAAC[C/T]TTAGACATCCTGTGG | 2060 |
rs2147449 | snp | C/T | 0.371582 | 0.218444 | intron-variant | EPS15 | GRCh38.p7 | 1:51508839 | TTTGGTGCATAGAGT[C/T]CATATTGTGGGATAT | 2060 |
rs2151711 | snp | G/T | 0.380529 | 0.213219 | intron-variant | EPS15 | GRCh38.p7 | 1:51451407 | ACCTCCCAAGGTCAA[G/T]CAATTCTCCTGCCCC | 2060 |
rs2275004 | snp | A/G | 0.148661 | 0.22854 | upstream-variant-2KB, intron-variant | EPS15, LOC105378720 | GRCh38.p7 | 1:51519370 | GGCGGGGCGGGCGTG[A/G]GGAGGGAAGTTGTGG | 2060 |
rs2405698 | snp | A/G | 0.00597247 | 0.0543191 | downstream-variant-500B | EPS15 | GRCh38.p7 | 1:51354161 | gctgggattacaggc[A/G]cgagccactgtgtcc | 2060 |
rs2405699 | snp | C/G | 0.306679 | 0.24349 | intron-variant | EPS15 | GRCh38.p7 | 1:51379106 | ctgactcatcatgca[C/G]aagggatcctcaata | 2060 |
rs2405700 | snp | A/G | 0.371177 | 0.218669 | intron-variant | EPS15 | GRCh38.p7 | 1:51393044 | TCATTCTAAGTTTCT[A/G]TTTAAATCAATATCC | 2060 |
rs3040220 | in-del | -/GT/GTGTGTGTGAGG/TA | 1.99974e-05 | 0.00316201 | intron-variant | EPS15 | GRCh38.p7 | 1:51440314 | tgtgtgtgtgtgtgt[-/GT/GTGTGTGTGAGG/TA]ATGTGAGTAGGCTGT | 2060 |
rs3790516 | snp | C/G | 0.000399281 | 0.0141238 | upstream-variant-2KB, intron-variant | EPS15 | GRCh38.p7 | 1:51422597 | CTTATATGCTTTAAT[C/G]AGGCCTGAGTGGCTA | 2060 |
rs3790517 | snp | A/C | 0.0221141 | 0.102801 | intron-variant | EPS15 | GRCh38.p7 | 1:51425028 | AGAAAAGGGAAATGA[A/C]ATGATCCTACTCATC | 2060 |
rs3790519 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | EPS15 | GRCh38.p7 | 1:51465105 | AACAACTGACAGAGC[C/T]GAAAGATCCCTCAGA | 2060 |
rs3991374 | in-del | -/TGA | | | intron-variant | EPS15 | GRCh38.p7 | 1:51421440 | tgatgatgatgatga[-/TGA]nngatgatgatCTCA | 2060 |
rs3991593 | snp | A/G | 0.357877 | 0.225527 | intron-variant | EPS15 | GRCh38.p7 | 1:51482622 | aaaaattagccaggc[A/G]tggtggtgcacgcct | 2060 |
rs4304638 | snp | A/C | 0.0821764 | 0.185298 | intron-variant | EPS15 | GRCh38.p7 | 1:51478824 | ttctgccaagagatc[A/C]gctgttagtctgatg | 2060 |
rs4459155 | snp | C/T | 0.37138 | 0.218556 | intron-variant | EPS15 | GRCh38.p7 | 1:51474891 | ctgtgtccaagtgtt[C/T]tcattgttcaattcc | 2060 |
rs4568875 | snp | A/T | 0.307919 | 0.243198 | intron-variant | EPS15 | GRCh38.p7 | 1:51474680 | AAATAGTTTTCTTTT[A/T]TTATTATTATTATTA | 2060 |
rs4631741 | snp | C/G | 0 | 0 | intron-variant | EPS15 | GRCh38.p7 | 1:51380018 | gtgagccaagatctt[C/G]ccactgcattccagc | 2060 |
rs4926893 | snp | G/T | 0.0132194 | 0.0802182 | missense, utr-variant-5-prime | EPS15 | GRCh38.p7 | 1:51471696 | GAAACTTACTTGTTT[G/T]TTCAGGATACCTTTG | 2060 |
rs4926895 | snp | A/G | 0.0205511 | 0.0992634 | upstream-variant-2KB, intron-variant | EPS15, LOC105378720 | GRCh38.p7 | 1:51520058 | CCTCCTTTGCAAAGT[A/G]TCTTTTTCTCTTCCT | 2060 |
rs5774101 | in-del | -/A | 0.371177 | 0.218669 | intron-variant | EPS15 | GRCh38.p7 | 1:51463833 | CACAAGTTAAATAAT[-/A]AGAGAAAAGGATTTA | 2060 |
rs6143219 | in-del | -/GAACAACTCTAAAGCTAG | 0.0429648 | 0.14013 | intron-variant | EPS15 | GRCh38.p7 | 1:51491675 | AAATTTGAGAAAGGA[-/GAACAACTCTAAAGCTAG]GGTGGAGGGCGTGGT | 2060 |
rs6588407 | snp | A/G | 0.128976 | 0.218754 | intron-variant | EPS15 | GRCh38.p7 | 1:51386206 | ttgggttatatcagt[A/G]aaaacaaagatctca | 2060 |
rs6588408 | snp | A/T | 0.128976 | 0.218754 | intron-variant | EPS15 | GRCh38.p7 | 1:51386242 | ttctggagcttaatt[A/T]ctaataggatgaaaa | 2060 |
rs6588409 | snp | C/T | 0.0267878 | 0.112589 | intron-variant | EPS15 | GRCh38.p7 | 1:51435350 | aggcatgcgccacca[C/T]gcctggctaattttt | 2060 |
rs6588410 | snp | A/G | 0.35809 | 0.225425 | intron-variant | EPS15 | GRCh38.p7 | 1:51472427 | ATATATCAATATCAC[A/G]TATAAGGAGTAGACA | 2060 |
rs6656341 | snp | C/T | 0.0501905 | 0.150254 | intron-variant | EPS15 | GRCh38.p7 | 1:51362827 | AAATATACTAAGATG[C/T]GTCTTCTCACATAAT | 2060 |
rs6657654 | snp | C/T | 0.0263992 | 0.111815 | intron-variant | EPS15 | GRCh38.p7 | 1:51503745 | gtactgcacaggaca[C/T]atagatcaatggaac | 2060 |
rs6659310 | snp | C/T | 0.371177 | 0.218669 | intron-variant | EPS15 | GRCh38.p7 | 1:51484850 | gccaccagctggcta[C/T]gtcagtgggaaattg | 2060 |
rs6661367 | snp | C/T | 0.12932 | 0.218944 | intron-variant | EPS15 | GRCh38.p7 | 1:51470055 | TCTAACATGACCCTC[C/T]TTCTTTTCTCACTCT | 2060 |
rs6663544 | snp | A/T | 0.352287 | 0.228117 | intron-variant | EPS15 | GRCh38.p7 | 1:51371243 | gtgttcaccttctac[A/T]tatacaacaaataag | 2060 |
rs6664504 | snp | C/T | 0.0260105 | 0.111035 | intron-variant | EPS15 | GRCh38.p7 | 1:51375656 | ATCTCTTTTTCCCCA[C/T]ATAAAGTTTAAAAGA | 2060 |
rs6664884 | snp | G/T | 0.0501905 | 0.150254 | intron-variant | EPS15 | GRCh38.p7 | 1:51362826 | AAAATATACTAAGAT[G/T]TGTCTTCTCACATAA | 2060 |
rs6665465 | snp | C/T | 0.0260105 | 0.111035 | intron-variant | EPS15 | GRCh38.p7 | 1:51480604 | actgtaacctcgcct[C/T]ccaggttcaagtgat | 2060 |
rs6666503 | snp | C/G | 0.371582 | 0.218444 | intron-variant | EPS15 | GRCh38.p7 | 1:51469086 | agtgagccgagatcg[C/G]gctactgcgctctag | 2060 |
rs6668872 | snp | C/T | 0.191461 | 0.24305 | intron-variant | EPS15 | GRCh38.p7 | 1:51492298 | TACCTTCTGCAAACA[C/T]GCTAACATCTCATGT | 2060 |
rs6669003 | snp | A/T | 0.0501905 | 0.150254 | intron-variant | EPS15 | GRCh38.p7 | 1:51371638 | caaaaagttcaaaaa[A/T]tttttaaagttttag | 2060 |
rs6669112 | snp | A/G | 0.135641 | 0.223863 | intron-variant | EPS15 | GRCh38.p7 | 1:51510134 | AATAGCACATGACAC[A/G]TAAGTGTGCTCAGTA | 2060 |
rs6672300 | snp | C/T | 0.272644 | 0.248972 | intron-variant | EPS15 | GRCh38.p7 | 1:51458554 | ccagtctggcaaaca[C/T]ggcgaaacgctgtct | 2060 |
rs6673480 | snp | C/T | 0.0825414 | 0.185628 | intron-variant | EPS15 | GRCh38.p7 | 1:51393570 | TCACAATTAATACAT[C/T]TGTATACTGAACAAC | 2060 |
rs6674976 | snp | A/C/T | 0.128976 | 0.218754 | intron-variant | EPS15 | GRCh38.p7 | 1:51458819 | GCACCAATATTCTTA[A/C/T]CACAAAAACCATTTA | 2060 |
rs6677670 | snp | C/T | 0.444444 | 0.157135 | intron-variant | EPS15 | GRCh38.p7 | 1:51384298 | tctttttctttcttt[C/T]ttttttttttttttt | 2060 |
rs6678581 | snp | C/T | 0.0252325 | 0.109451 | intron-variant | EPS15 | GRCh38.p7 | 1:51364744 | gctcaagcaatcctc[C/T]catctcagcctccca | 2060 |
rs6680306 | snp | C/T | 0.108755 | 0.206276 | intron-variant | EPS15 | GRCh38.p7 | 1:51426087 | AGAAAAATAGGTTAC[C/T]AAATACTAAATACAA | 2060 |
rs6681524 | snp | A/G | 0.00755907 | 0.0610114 | intron-variant | EPS15 | GRCh38.p7 | 1:51427481 | TAAGAATATAAAGAG[A/G]TAATTACAATGCAGT | 2060 |
rs6682469 | snp | G/T | 0.0707826 | 0.174302 | intron-variant | EPS15 | GRCh38.p7 | 1:51496791 | CATTATAGTCAGAAC[G/T]TGAGTAACAGTCACT | 2060 |
rs6685946 | snp | C/T | 0.0501905 | 0.150254 | intron-variant | EPS15 | GRCh38.p7 | 1:51497858 | ggtgcgcgcctgtag[C/T]cccagctacttggga | 2060 |
rs6690423 | snp | C/G | 0.0252325 | 0.109451 | intron-variant | EPS15 | GRCh38.p7 | 1:51508938 | CTCTACAGTAACAAC[C/G]CTGGATCCTATAAAA | 2060 |
rs6691285 | snp | C/T | 0.0154538 | 0.0865337 | intron-variant | EPS15 | GRCh38.p7 | 1:51393773 | TGTTGAAAAAGCTTT[C/T]TGTCAGACCTAATAT | 2060 |
rs6693551 | snp | A/G | 0 | 0 | intron-variant | EPS15 | GRCh38.p7 | 1:51357500 | GCTTATAGTAGATTA[A/G]AAGATTTAAAAACAG | 2060 |
rs6694227 | snp | C/T | 0.0498117 | 0.149749 | intron-variant | EPS15 | GRCh38.p7 | 1:51385129 | caccaacggacagta[C/T]taacagaatgaaaag | 2060 |
rs6694518 | snp | A/C | 0.5 | 0 | intron-variant | EPS15 | GRCh38.p7 | 1:51400710 | tcaaaaacaaaaaac[A/C]ccaaaaaaaaaaaaa | 2060 |
rs6694583 | snp | A/G | 0.37138 | 0.218556 | intron-variant | EPS15 | GRCh38.p7 | 1:51498091 | CTTTTCCAACTAGTC[A/G]ATAAGATAACAATGT | 2060 |
rs6700068 | snp | A/T | 0.0503668 | 0.150488 | intron-variant | EPS15 | GRCh38.p7 | 1:51502342 | ataaataaatacttt[A/T]aaaaaaaCCCTTTCA | 2060 |
rs6702800 | snp | A/G | 0.0501905 | 0.150254 | intron-variant | EPS15 | GRCh38.p7 | 1:51363253 | cagtgagctgagatc[A/G]tgccactgtactcca | 2060 |
rs6704235 | snp | A/G | 0.371582 | 0.218444 | intron-variant | EPS15 | GRCh38.p7 | 1:51469328 | TGACTTAATGACTGC[A/G]ATTCCAGAAAAACTA | 2060 |
rs7355136 | snp | C/T | 0 | 0 | intron-variant | EPS15 | GRCh38.p7 | 1:51370417 | ccaaatccaaaaatc[C/T]tgaaaccaaaaatgc | 2060 |
rs7355138 | snp | C/T | | | intron-variant | EPS15 | GRCh38.p7 | 1:51370448 | tccaataagcatttc[C/T]ttggagcatcatatc | 2060 |
rs7355140 | snp | C/T | 0 | 0 | intron-variant | EPS15 | GRCh38.p7 | 1:51370509 | ttagatttttcagac[C/T]ttggatgctcaaccc | 2060 |
rs7412881 | snp | A/T | | | intron-variant, nc-transcript-variant | EPS15, LOC105378720 | GRCh38.p7 | 1:51518091 | CGGGAAGCACGCGCC[A/T]CCAGCTCTGGAGAGA | 2060 |
rs7414033 | snp | C/T | 0.0821764 | 0.185298 | intron-variant | EPS15 | GRCh38.p7 | 1:51479224 | tcaaccactgatacc[C/T]tttcttccacttgat | 2060 |
rs7416257 | snp | A/G | | | intron-variant | EPS15 | GRCh38.p7 | 1:51380201 | tgcactccagcctgg[A/G]caacaagagcaaaac | 2060 |
rs7512458 | snp | A/C | 0.0501905 | 0.150254 | intron-variant | EPS15 | GRCh38.p7 | 1:51464560 | ataaaataattaCTA[A/C]AGGAATAAACATCAA | 2060 |
rs7513984 | snp | C/T | 0.108402 | 0.206034 | upstream-variant-2KB, intron-variant | EPS15, LOC105378720 | GRCh38.p7 | 1:51519451 | cccAAACCCTGGCGC[C/T]GGAGTCTCGGCCACC | 2060 |
rs7514142 | snp | A/C | 0.0501905 | 0.150254 | intron-variant | EPS15 | GRCh38.p7 | 1:51513622 | TATGAATTTTTTTAA[A/C]CATGAATTTATATTG | 2060 |
rs7514678 | snp | C/T | | | intron-variant | EPS15 | GRCh38.p7 | 1:51464380 | gagtagctgggatta[C/T]aggcgcctgccacca | 2060 |
rs7518049 | snp | A/G | 0.0166325 | 0.0896639 | intron-variant | EPS15 | GRCh38.p7 | 1:51468102 | tagctgggaccagac[A/G]tgcacaccaacacac | 2060 |
rs7522189 | snp | A/G | 0.0260105 | 0.111035 | intron-variant | EPS15 | GRCh38.p7 | 1:51368849 | ctcaagcaatctgcc[A/G]gcctaagcctcccaa | 2060 |