SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs1061305 | snp | A/G | 0.485063 | 0.08512 | missense, intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151490465 | GCCAGTGCACTAAGC[A/G]TCAGTGGGGGTGAGG | 4703 |
rs1061317 | snp | C/T | 0.00358779 | 0.0422022 | utr-variant-3-prime, intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151485548 | TATTATTTCTGTGCC[C/T]AGAGTCTTTCTCCAT | 4703 |
rs1061322 | snp | A/G | 0.000248617 | 0.0111466 | intron-variant, utr-variant-3-prime | NEB, RIF1 | GRCh38.p7 | 2:151497728 | TAACACCTGTGCGAT[A/G]AGAAAGCATCCAGAA | 4703 |
rs1063573 | snp | C/G | 0 | 0 | missense, intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151494196 | GTCACTCCTGAGATG[C/G]AGAGAGTCAAACGCA | 4703 |
rs2288193 | snp | A/T | 0.419428 | 0.183832 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151492328 | ATGATGGTGTGACTA[A/T]ATCCCTTTTTACACA | 4703 |
rs2288194 | snp | C/T | 0.0221141 | 0.102801 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151492333 | GGTGTGACTATATCC[C/T]TTTTTACACATTCTG | 4703 |
rs2288195 | snp | A/G | 0.447267 | 0.153577 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151492512 | GATGCAGGAGAGACC[A/G]TGAATGAGTGGTGCT | 4703 |
rs2288196 | snp | A/G | 0.49607 | 0.0441545 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151525381 | GCTCCCCATTTTGGC[A/G]TCAGTCTGGGACTTA | 4703 |
rs2288197 | snp | A/G | 0.0926964 | 0.194308 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151526345 | TCAAACCAGTAGAAC[A/G]GCAGCGTTGACAATA | 4703 |
rs2288198 | snp | C/T | 0.477175 | 0.104362 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151527399 | GGTTAACACTCATGA[C/T]AGTGGTTATTATAAA | 4703 |
rs2288199 | snp | C/T | 0.0106619 | 0.0722307 | intron-variant | NEB | GRCh38.p7 | 2:151541404 | CACATATAATCACCC[C/T]CTGTGATGCCTGAGT | 4703 |
rs2288200 | snp | A/T | 0.0665968 | 0.169892 | NEB | 2 | allele_origin=T(germline)/A(germline) | 2:151547704 | GTTGTATGGATCTTG[A/T]CTTTCAGTTTGTGGT | 4703 |
rs2288201 | snp | C/T | 0.460677 | 0.134592 | intron-variant | NEB | GRCh38.p7 | 2:151547780 | GCATTTAGTAGGGGA[C/T]GACGAGGGCATCTAC | 4703 |
rs2288202 | snp | C/T | 0.499996 | 0.00139776 | intron-variant | NEB | GRCh38.p7 | 2:151549299 | AGTGCGTGTGTGAAG[C/T]TGCATTTCCAATAAA | 4703 |
rs2288203 | snp | C/T | 0.499017 | 0.0221427 | intron-variant | NEB | GRCh38.p7 | 2:151552902 | CACTACTCAACAGAC[C/T]GAGATGCATTTGAAT | 4703 |
rs2288204 | snp | A/G | 0.00557542 | 0.0525036 | intron-variant | NEB | GRCh38.p7 | 2:151553089 | TATAGCATTGCAAAC[A/G]CTAACAAATCACACT | 4703 |
rs2288205 | snp | C/T | 0.154993 | 0.231244 | intron-variant | NEB | GRCh38.p7 | 2:151560418 | GCAGAGAGAGACAGG[C/T]AGTGAGCACATAGAC | 4703 |
rs2288206 | snp | A/G | 0.462495 | 0.131704 | intron-variant | NEB | GRCh38.p7 | 2:151560550 | GGAGAGCAGGGGAGG[A/G]GAGGGAGGGTGGGAA | 4703 |
rs2288207 | snp | C/T | 0.0267878 | 0.112589 | intron-variant | NEB | GRCh38.p7 | 2:151562292 | TAATTTCCTATCAGC[C/T]GTTGGCTGTGCTTAT | 4703 |
rs2288208 | snp | C/T | 0.0267878 | 0.112589 | intron-variant | NEB | GRCh38.p7 | 2:151562404 | AATGTCTGAGTCTAT[C/T]GTGAAACCAATTAAA | 4703 |
rs2288209 | snp | C/T | 0.148996 | 0.228688 | intron-variant | NEB | GRCh38.p7 | 2:151562524 | TGAATACAGGGACAA[C/T]GGGAGCATGGCAGCC | 4703 |
rs2288210 | snp | C/G | 0.441722 | 0.160446 | missense | NEB | GRCh38.p7 | 2:151565562 | GGATCCACCACACTT[C/G]TAAAGTTAGGATAGT | 4703 |
rs2288211 | snp | A/G | 0.416342 | 0.186629 | synonymous-codon | NEB | GRCh38.p7 | 2:151565573 | ACTTCTAAAGTTAGG[A/G]TAGTTTTCAAGGGCA | 4703 |
rs2288212 | snp | C/T | 0.0267878 | 0.112589 | intron-variant | NEB | GRCh38.p7 | 2:151568002 | TGCTATCTCTGCCTT[C/T]GGCATAACTGGAATC | 4703 |
rs2288217 | snp | A/G | 0.444444 | 0.157135 | synonymous-codon, intron-variant | NEB | GRCh38.p7 | 2:151593174 | CAGAACCCTCTGGCA[A/G]CCATCCAATACCCTT | 4703 |
rs3213814 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant, nc-transcript-variant | NEB, RIF1 | GRCh38.p7 | 2:151499495 | AGACGTCAGACAGAA[A/G]AGACAGATTCAACAA | 4703 |
rs3213815 | snp | A/T | | | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151499683 | TAAGACCACTAAAAT[A/T]CTCAGTGTACAATAG | 4703 |
rs3213816 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151499694 | AAATACTCAGTGTAC[A/G]ATAGAAAAATTGCTT | 4703 |
rs3213817 | snp | A/C/T | 0.10817 | 0.208706 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151503248 | ACACACACAGACACA[A/C/T]ACAGAATTGCTGTTA | 4703 |
rs3213818 | snp | A/G | 0.468249 | 0.121932 | intron-variant | NEB | GRCh38.p7 | 2:151546197 | CACAGATCACATTAA[A/G]GTGATAATCTGCTCA | 4703 |
rs3214502 | in-del | -/C | 0.328382 | 0.237395 | intron-variant | NEB | GRCh38.p7 | 2:151560797 | TCCTTCTCACACACT[-/C]CCCTACTAACTCCCA | 4703 |
rs3214503 | in-del | -/A/AA | | | intron-variant | NEB | GRCh38.p7 | 2:151568420 | CTAAAAAAAAAAAAA[-/A/AA]TGAGAGGCAAGGGGG | 4703 |
rs3732307 | snp | A/G | 0.109461 | 0.206758 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151495214 | TAAATCCTCAACCTC[A/G]GTATCTCCCCTCAGT | 4703 |
rs3732308 | snp | C/G | 0.342806 | 0.232136 | intron-variant, nc-transcript-variant | NEB, RIF1 | GRCh38.p7 | 2:151495283 | TGAAGAGGAAGAATT[C/G]TGTTGAAATAGTGAT | 4703 |
rs3732309 | snp | C/T | 0.0103893 | 0.0713213 | missense, intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151516460 | TTTTTTTGACTTACC[C/T]CACTCTGCATCTGCT | 4703 |
rs3732310 | snp | G/T | 0.48599 | 0.0825158 | intron-variant | NEB | GRCh38.p7 | 2:151538020 | AAGTCTTACCCAAAG[G/T]TAATGTAAATATGGC | 4703 |
rs3732311 | snp | A/G | 0.0810805 | 0.184299 | intron-variant | NEB | GRCh38.p7 | 2:151567091 | AAATTTCAAGCACTT[A/G]TGGATCTGGGATGTT | 4703 |
rs3732312 | snp | C/T | 0.347473 | 0.230215 | intron-variant | NEB | GRCh38.p7 | 2:151569178 | TTGAAATGGTTAAGA[C/T]TGCTGATATTAGATG | 4703 |
rs3771900 | snp | A/G | 0.461813 | 0.132798 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151492880 | TATTTTCCTTAGGTT[A/G]TGTCCAGACTTCATA | 4703 |
rs3771901 | snp | A/G | 0.334642 | 0.235236 | intron-variant | NEB | GRCh38.p7 | 2:151575967 | TTTGATATAAAATCT[A/G]TATTATTCCCTTTTA | 4703 |
rs3815852 | snp | C/G | 0.493793 | 0.055364 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151505884 | TAGGATAAACAGATT[C/G]ACATACATATATCCA | 4703 |
rs3815853 | snp | A/G | | | synonymous-codon, intron-variant | NEB | GRCh38.p7 | 2:151579338 | GGGCGACACACTTAC[A/G]TCGCTCTGTAGGTCG | 4703 |
rs3821324 | snp | A/G | 0.00979356 | 0.0692883 | synonymous-codon, intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151485796 | GGCTGGGAGCATTCC[A/G]GTCCTGCCAGTCCTC | 4703 |
rs3832166 | in-del | -/CGTGCTAATG | | | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151495460 | TGATGCGTGCTAATG[-/CGTGCTAATG]TTTTAGAAGCACTGT | 4703 |
rs3835058 | in-del | -/T | 0.46845 | 0.121572 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151503623 | CCAAAATAGTAAAAA[-/T]TTTTACTACTTTGAA | 4703 |
rs4130862 | snp | G/T | | | intron-variant | NEB | GRCh38.p7 | 2:151609668 | TACCATTCACATTGT[G/T]TAATATAAAATCCAT | 4703 |
rs4233649 | snp | A/G | 0.466721 | 0.124627 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151502229 | TGCAGGAAAGAGTGG[A/G]AGTGAGGCGAGGGAA | 4703 |
rs4233650 | snp | A/G | 0.477853 | 0.102875 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151529676 | CCTGGGACCACAGGC[A/G]TGCGCCACCTCACCC | 4703 |
rs4233651 | snp | A/C | 0.4711 | 0.116682 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151529878 | AAAGGACCAGTTGGA[A/C]CCCTATTCATTCAGG | 4703 |
rs4233652 | snp | C/T | 0.499563 | 0.0147699 | intron-variant | NEB | GRCh38.p7 | 2:151550713 | CACCATCACAGTTCA[C/T]TGCATCCTTGACCTC | 4703 |
rs4233653 | snp | C/T | 0.350982 | 0.228698 | intron-variant | NEB | GRCh38.p7 | 2:151631060 | GACCCCACGCCTTCA[C/T]AGATAATTTAGACTC | 4703 |
rs4248068 | snp | A/G | | | intron-variant | NEB | GRCh38.p7 | 2:151591172 | AGAGTTGCAGAACCA[A/G]ACATAGATGCAAAAG | 4703 |
rs4266011 | snp | C/T | 0.376791 | 0.215463 | intron-variant | NEB | GRCh38.p7 | 2:151717850 | GACCATATACCTCCT[C/T]TGTTCTTTTTTTTTT | 4703 |
rs4271765 | snp | C/T | 0.495016 | 0.0496707 | intron-variant | NEB | GRCh38.p7 | 2:151692826 | AATACAAAAATTAGC[C/T]GGGCGTGATGGCACA | 4703 |
rs4289189 | snp | C/T | 0.49533 | 0.0480965 | intron-variant | NEB | GRCh38.p7 | 2:151682963 | TTTCCTTCTAACTGG[C/T]GTTATGTTCCATTTC | 4703 |
rs4300824 | snp | C/T | 0.44755 | 0.153212 | intron-variant | NEB | GRCh38.p7 | 2:151725352 | ACTAGCTCATAGTAA[C/T]TCAACTGCTCATTCT | 4703 |
rs4303716 | snp | A/G | 0.315913 | 0.241154 | intron-variant | NEB | GRCh38.p7 | 2:151617487 | CAAAAAAAAAAAAAA[A/G]AGAGAGAGAGAGAGA | 4703 |
rs4316939 | snp | C/T | 0.404559 | 0.196498 | intron-variant | NEB | GRCh38.p7 | 2:151668606 | ATTAGATGTCTAGAC[C/T]ACTCAAGAGAAAGGC | 4703 |
rs4327235 | snp | A/G | 0.00793638 | 0.0624916 | missense | NEB | GRCh38.p7 | 2:151567409 | AACCAAACCAGCTTA[A/G]GATCATCTCTCATCG | 4703 |
rs4338956 | snp | C/T | 0.0271762 | 0.113356 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151522771 | ATTTTCTTAAGATGC[C/T]TCATCATAGGGGTGT | 4703 |
rs4358117 | snp | C/T | 0.493703 | 0.0557558 | intron-variant | NEB | GRCh38.p7 | 2:151717946 | GCAAGCTCCGCCTCC[C/T]GGGTTCAGGCCATTC | 4703 |
rs4364020 | snp | A/G/T | 0.0890224 | 0.191284 | intron-variant | NEB | GRCh38.p7 | 2:151561167 | AATACATAAAGACAA[A/G/T]AAATAGTTTGTCCCT | 4703 |
rs4372897 | snp | C/T | 0.499992 | 0.00199679 | intron-variant | NEB | GRCh38.p7 | 2:151550853 | gtttcaccatgttgc[C/T]caggctggtcttgaa | 4703 |
rs4374369 | snp | C/T | 0.497613 | 0.0344622 | intron-variant | NEB | GRCh38.p7 | 2:151713465 | ATGTGATGGAAGAAT[C/T]TCCATGGTTTTAGAG | 4703 |
rs4375863 | snp | A/G | 0.490398 | 0.0686206 | intron-variant | NEB | GRCh38.p7 | 2:151717885 | TTGAGACGGAGTCTC[A/G]CTATGTTGCCCAGGC | 4703 |
rs4378803 | snp | A/G | 0.00358779 | 0.0422022 | intron-variant | NEB | GRCh38.p7 | 2:151645849 | CTCTGCCTGCAAAGA[A/G]TGCCTGTCCACACTG | 4703 |
rs4381780 | snp | C/G | 0.0517044 | 0.152246 | intron-variant | NEB | GRCh38.p7 | 2:151704766 | CCACTGTCTGGCACT[C/G]CCTAGTGAGATGAAC | 4703 |
rs4381781 | snp | C/G | 0.496778 | 0.0400063 | intron-variant | NEB | GRCh38.p7 | 2:151705086 | AACCTTCATGAAAAA[C/G]TTATATAAGGTGAGA | 4703 |
rs4384787 | snp | A/C/T | 0.000399281 | 0.0141238 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151511387 | TGTAATTTTACAATA[A/C/T]ACAACTATATGTTTC | 4703 |
rs4410290 | snp | C/T | 0.0185938 | 0.0946107 | intron-variant | NEB | GRCh38.p7 | 2:151704516 | caatcagcgagactc[C/T]gtgggcgtaggaccc | 4703 |
rs4413159 | snp | A/G | 0.490398 | 0.0686206 | intron-variant | NEB | GRCh38.p7 | 2:151717770 | ATTCTCTTAACCAGC[A/G]TCTTCAACTCCCAAC | 4703 |
rs4414676 | snp | C/T | 0.085037 | 0.187849 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151491671 | GTTGTAAGCCTTTTT[C/T]AGCTAACACACCATT | 4703 |
rs4425075 | snp | A/G | 0.49621 | 0.0433651 | intron-variant | NEB | GRCh38.p7 | 2:151733507 | CCAAACACTTAGAGA[A/G]AAGACATTTTCCAGC | 4703 |
rs4453694 | snp | C/T | 0.371785 | 0.218331 | intron-variant | NEB | GRCh38.p7 | 2:151683036 | CCAACCTGGAAAATG[C/T]TCGAGTCAAAGCTGC | 4703 |
rs4461258 | snp | C/T | 0.333722 | 0.235565 | intron-variant | NEB | GRCh38.p7 | 2:151573165 | AGTAATGGTGATACA[C/T]TTGTAAAGAAAATGC | 4703 |
rs4464268 | snp | G/T | 0.375399 | 0.216275 | intron-variant | NEB | GRCh38.p7 | 2:151702594 | gttagctcttcttgt[G/T]gaattgatcccttta | 4703 |
rs4465763 | snp | A/G | 0.453939 | 0.144598 | intron-variant | NEB | GRCh38.p7 | 2:151683399 | TAAAATGCTACTCTT[A/G]TTGTCTGACCATAGG | 4703 |
rs4484033 | snp | A/G | 0.0513262 | 0.151752 | intron-variant | NEB | GRCh38.p7 | 2:151687098 | ATCATTTTAAAAATT[A/G]TTTTTCAATTAGAAG | 4703 |
rs4503987 | snp | A/C | 0.172351 | 0.237636 | intron-variant | NEB | GRCh38.p7 | 2:151684322 | GATCTGCAGAAAAAA[A/C]CGTTATAAATATTTA | 4703 |
rs4507102 | snp | A/T | 0.342134 | 0.232404 | intron-variant | NEB | GRCh38.p7 | 2:151632163 | TCACTTTATTAAAAA[A/T]TTTTTTTTTGCTGAA | 4703 |
rs4536649 | snp | C/T | 0.469937 | 0.118861 | intron-variant | NEB | GRCh38.p7 | 2:151658239 | GAATGTTCTTACAAG[C/T]AACATAACTGTGTTT | 4703 |
rs4544436 | snp | A/C/G | 0.023584 | 0.106003 | NEB | 2 | allele_origin=G(germline)/A(germline) | 2:151561322 | TTGTAGCTGTGAAGA[A/C/G]AAACAAAAGTCATCA | 4703 |
rs4564765 | snp | C/G | 0.499866 | 0.0081858 | intron-variant | NEB | GRCh38.p7 | 2:151641134 | GCCTGCAAAGAATGT[C/G]TGTATATTTATACAC | 4703 |
rs4564766 | snp | A/T | 0.490673 | 0.0676508 | intron-variant | NEB | GRCh38.p7 | 2:151695828 | CATCTGCATTACTGA[A/T]CCTGTGTGCAGGACA | 4703 |
rs4575719 | snp | A/C | 0.499942 | 0.00539106 | intron-variant | NEB | GRCh38.p7 | 2:151553295 | AGCTCAGCCACCCCC[A/C]AGAGCTGGCCTGTGA | 4703 |
rs4599105 | snp | A/G | 0.471292 | 0.116318 | intron-variant | NEB | GRCh38.p7 | 2:151625332 | TTTTTGTGTCTGTCT[A/G]TCTATCTGTCTGTCT | 4703 |
rs4602223 | snp | A/G | 0.0441095 | 0.141807 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151486036 | ACTCCACAAACTTAA[A/G]TTGAACAAAAGAGAA | 4703 |
rs4605369 | snp | C/T | 0.0123036 | 0.0774623 | intron-variant | NEB | GRCh38.p7 | 2:151561974 | CTAGAAGAGCTTTGA[C/T]TGGGAGAGGAGGGGC | 4703 |
rs4611637 | snp | A/G | 0.381169 | 0.212826 | synonymous-codon | NEB | GRCh38.p7 | 2:151717467 | TATATCTGGAGGATC[A/G]GCCAGAGGCGTGAAT | 4703 |
rs4616478 | snp | C/T | 0.192715 | 0.243348 | intron-variant | NEB | GRCh38.p7 | 2:151578307 | ACAAGTGGTCTGGAG[C/T]GTGCTGCTAACTTTT | 4703 |
rs4625904 | snp | C/T | 0.497211 | 0.037236 | upstream-variant-2KB | NEB | GRCh38.p7 | 2:151736357 | TGCACATTTTGAAAA[C/T]TGATAGATATTGTCA | 4703 |
rs4641933 | snp | A/G | 0.00478085 | 0.0486577 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151500870 | TCCCAAAGTGCTGAG[A/G]TGACAGGTGTGAGCC | 4703 |
rs4643540 | snp | A/G | 0.498459 | 0.0277128 | intron-variant | NEB, RIF1 | GRCh38.p7 | 2:151504053 | AGTCCATATTTTTTA[A/G]TAGTAGTATCTAAGG | 4703 |
rs4664055 | snp | A/C | 0.46754 | 0.123192 | intron-variant | NEB | GRCh38.p7 | 2:151545657 | AGACATAGGAAGAGC[A/C]AGTATGAATATGCGT | 4703 |
rs4664056 | snp | C/G | 0.498982 | 0.0225409 | intron-variant | NEB | GRCh38.p7 | 2:151552459 | TACTTCATAGACTCG[C/G]ATCACCTACAACTCC | 4703 |
rs4664057 | snp | A/G | 0.416545 | 0.186448 | intron-variant | NEB | GRCh38.p7 | 2:151555429 | TACTAAAAGGAGTGC[A/G]AGATTAAAACTGTGC | 4703 |
rs4664058 | snp | C/T | 0.329084 | 0.237162 | intron-variant | NEB | GRCh38.p7 | 2:151555689 | TCTTCCAAAACTCAG[C/T]GATTTGCACCTCTGT | 4703 |
rs4664059 | snp | G/T | | | intron-variant | NEB | GRCh38.p7 | 2:151608935 | AAAAAAAAAAAAAAG[G/T]TAAATGTCAACATTT | 4703 |
rs4664060 | snp | A/T | 0.389152 | 0.207694 | intron-variant | NEB | GRCh38.p7 | 2:151608962 | ATTTAATGAAAAAAT[A/T]GGCAAAGATTGTATG | 4703 |
rs4664061 | snp | A/G | 0.296364 | 0.245663 | intron-variant | NEB | GRCh38.p7 | 2:151608981 | AAAGATTGTATGAGA[A/G]GCAAGGTGCAGGCCT | 4703 |