SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs8299 | snp | A/G | 0.455428 | 0.142476 | synonymous-codon, nc-transcript-variant, intron-variant | ELP2 | GRCh38.p7 | 18:36170083 | GTCATCAGTGGAGTC[A/G]CACTCACCCCAGACA | 55250 |
rs12083 | snp | C/T | 0.00974184 | 0.0691087 | missense, nc-transcript-variant | ELP2 | GRCh38.p7 | 18:36171049 | CCTACTGCAACCACG[C/T]ATCTGTTTTTAAGGG | 55250 |
rs471955 | snp | G/T | 0.0137924 | 0.0818901 | intron-variant | ELP2 | GRCh38.p7 | 18:36165467 | TATTTCTGGTCTCTT[G/T]GTTTCTTGTGTTTTA | 55250 |
rs483641 | snp | G/T | | | intron-variant | ELP2 | GRCh38.p7 | 18:36167676 | CTAGCTACTTTGTTT[G/T]GACTTTTTTTAAAGC | 55250 |
rs546575 | snp | A/C | 0.437683 | 0.165152 | intron-variant | ELP2 | GRCh38.p7 | 18:36169709 | AGCTACCACAAAATG[A/C]TTAAGAACTAATCAG | 55250 |
rs559289 | snp | G/T | 0.435263 | 0.167862 | intron-variant | ELP2 | GRCh38.p7 | 18:36172927 | AAAGGTACTTGGAAC[G/T]TGGTAACTGAAATAT | 55250 |
rs577896 | snp | A/G | 0.0821764 | 0.185298 | intron-variant | ELP2 | GRCh38.p7 | 18:36164988 | GAATGCTACCACAAA[A/G]CCTAATGGATAACTT | 55250 |
rs589213 | snp | C/T | 0.435694 | 0.167385 | intron-variant | ELP2 | GRCh38.p7 | 18:36163647 | gaaaatcagttttaa[C/T]ctatactccatgaca | 55250 |
rs590969 | snp | A/C | 0 | 0 | intron-variant | ELP2 | GRCh38.p7 | 18:36163275 | cacacacacacacac[A/C]ccccatgaactacta | 55250 |
rs592261 | snp | C/T | 0.43088 | 0.172575 | intron-variant | ELP2 | GRCh38.p7 | 18:36172281 | TAGTAGCTTTCTGAA[C/T]GTTTATACTTTTTTG | 55250 |
rs604037 | snp | G/T | | | intron-variant | ELP2 | GRCh38.p7 | 18:36171940 | ttgagcccaggatat[G/T]gagaacaggctgggc | 55250 |
rs606977 | snp | G/T | 0 | 0 | intron-variant | ELP2 | GRCh38.p7 | 18:36165441 | GACTCGCATACAGTT[G/T]GGTTTTGTGATATTT | 55250 |
rs607442 | snp | G/T | | | intron-variant | ELP2 | GRCh38.p7 | 18:36165545 | CAGACTGTTTTCTTT[G/T]GCATCACTAATCTTT | 55250 |
rs607962 | snp | A/G | 0.039522 | 0.134904 | intron-variant | ELP2 | GRCh38.p7 | 18:36169908 | TGCCAGGACTTGAGA[A/G]CATTTCAAGCATCAG | 55250 |
rs635908 | snp | C/T | 0.15879 | 0.232768 | intron-variant | ELP2 | GRCh38.p7 | 18:36170820 | TGCTGGCAAGGCCCA[C/T]GAGCCAGTGTTTCCC | 55250 |
rs637786 | snp | C/T | 0.437965 | 0.164831 | intron-variant | ELP2 | GRCh38.p7 | 18:36170351 | GCATTCCAGCCTGGG[C/T]GACAGAGTGAGACTC | 55250 |
rs642406 | snp | C/T | 0.436692 | 0.166271 | intron-variant | ELP2 | GRCh38.p7 | 18:36166599 | TGCCTCCCAAAAGTG[C/T]GGGGATTACAGGCGT | 55250 |
rs650377 | snp | A/G | 0.43555 | 0.167544 | intron-variant | ELP2 | GRCh38.p7 | 18:36165806 | CAACCTCTGCCTCCC[A/G]GGTTGAAATGCTTCT | 55250 |
rs669104 | snp | C/T | | | synonymous-codon, nc-transcript-variant | ELP2 | GRCh38.p7 | 18:36174536 | CTTCTGTTCAGTTTT[C/T]CCACTGCAATTCTTC | 55250 |
rs669961 | snp | A/G | 0.0821764 | 0.185298 | intron-variant | ELP2 | GRCh38.p7 | 18:36168243 | TATGGCAGACTTTAC[A/G]TCTCAGACCCTCCCT | 55250 |
rs681757 | snp | A/C | 0.435407 | 0.167703 | intron-variant | ELP2 | GRCh38.p7 | 18:36164803 | TTCCTCAGTTATCCA[A/C]GAACTTTGAAAGGCT | 55250 |
rs684890 | snp | C/T | 0.453732 | 0.14489 | intron-variant | ELP2 | GRCh38.p7 | 18:36164714 | GTGAAACAGTTATGT[C/T]CATTTTATCTACATT | 55250 |
rs684917 | snp | A/G | 0.0818113 | 0.184966 | intron-variant | ELP2 | GRCh38.p7 | 18:36173395 | AAGCTTAATAGATAT[A/G]AATGGCAAGCTTTAA | 55250 |
rs685042 | snp | C/T | 0.370772 | 0.218893 | intron-variant | ELP2 | GRCh38.p7 | 18:36164035 | GACAGGCATATTGCA[C/T]TCATATGTCAAAATA | 55250 |
rs693236 | snp | C/T | | | intron-variant | ELP2 | GRCh38.p7 | 18:36174450 | ATCATGAAATGTTTT[C/T]CCAATTAATGGTGTA | 55250 |
rs693500 | snp | A/C | | | intron-variant | ELP2 | GRCh38.p7 | 18:36174415 | TGAATGGAAGTTAAA[A/C]CCTGAAAATTGAAAT | 55250 |
rs948416 | snp | C/T | 0.370568 | 0.219005 | intron-variant | ELP2 | GRCh38.p7 | 18:36135710 | TCTTGGCAGGAACAT[C/T]ATATGAAACATTGTA | 55250 |
rs948417 | snp | A/G | 0.370568 | 0.219005 | upstream-variant-2KB, intron-variant | SLC39A6, ELP2 | GRCh38.p7 | 18:36131311 | CTTGAATGGCAAGAG[A/G]AAGTGCAAAAAACAA | 55250 |
rs948418 | snp | G/T | 0.0244538 | 0.107838 | intron-variant, upstream-variant-2KB | ELP2, SLC39A6 | GRCh38.p7 | 18:36131561 | CCAGGGTGACACCCT[G/T]TTAAAATCAACTCCG | 55250 |
rs948419 | snp | A/G | 0.371582 | 0.218444 | intron-variant, upstream-variant-2KB | SLC39A6, ELP2 | GRCh38.p7 | 18:36127921 | GTATTTAAAGTATAC[A/G]CTTATTTGAGGCTGG | 55250 |
rs1010955 | snp | C/T | 0.431916 | 0.171483 | upstream-variant-2KB, intron-variant | SLC39A6, ELP2 | GRCh38.p7 | 18:36130647 | CTTCACCCAGTCAGT[C/T]GGTTATTTTCTTGGT | 55250 |
rs1044128 | snp | A/C | 0 | 0 | missense, nc-transcript-variant | ELP2 | GRCh38.p7 | 18:36174577 | GTGCTGAGTGGTTAC[A/C]CTTTGCAAGCTGTGG | 55250 |
rs1044133 | snp | A/C | 0 | 0 | missense, nc-transcript-variant | ELP2 | GRCh38.p7 | 18:36174601 | GCTGTGGTGAAGATC[A/C]CACTGTGAAGATACA | 55250 |
rs1044134 | snp | A/C | 0 | 0 | missense, nc-transcript-variant | ELP2 | GRCh38.p7 | 18:36174603 | TGTGGTGAAGATCAC[A/C]CTGTGAAGATACACA | 55250 |
rs1539823 | snp | A/G | 0.370568 | 0.219005 | intron-variant | ELP2 | GRCh38.p7 | 18:36156298 | AAATTACCAAGAGCC[A/G]CAGAAAAATCACTCA | 55250 |
rs1539824 | snp | C/T | 0.464309 | 0.12873 | intron-variant | ELP2 | GRCh38.p7 | 18:36156217 | CTCAACTCTATTTAT[C/T]TGAATCTACCACGTG | 55250 |
rs1539835 | snp | A/G | 0.146657 | 0.22764 | intron-variant | ELP2 | GRCh38.p7 | 18:36171013 | ACAATTTCATGCTAA[A/G]TTAATCACTGTTGTC | 55250 |
rs1573353 | snp | A/C | 0 | 0 | intron-variant | ELP2 | GRCh38.p7 | 18:36133364 | AATTGTTTTCTGATA[A/C]AATAAGGTTAGCCAT | 55250 |
rs1573355 | snp | A/T | 0 | 0 | intron-variant | ELP2 | GRCh38.p7 | 18:36133547 | AGGGTAGTGCAGCCC[A/T]AGACTTTGGCAGGAT | 55250 |
rs1612666 | snp | A/T | 0.477853 | 0.102875 | intron-variant | ELP2 | GRCh38.p7 | 18:36149600 | atcgcctcaaaaaaa[A/T]tttttttttaattta | 55250 |
rs1620914 | snp | C/T | 0.0486741 | 0.148216 | intron-variant | ELP2 | GRCh38.p7 | 18:36137591 | CATCCCTTCTACTGA[C/T]GTTTTGGGTTTATCT | 55250 |
rs1623446 | snp | A/C | 0.0818113 | 0.184966 | intron-variant | ELP2 | GRCh38.p7 | 18:36137292 | TTACTTGGGAGGCTG[A/C]GGTAGGAGTATCACC | 55250 |
rs1625385 | snp | G/T | 0.435263 | 0.167862 | intron-variant | ELP2 | GRCh38.p7 | 18:36137401 | ATACTCATGTATAAG[G/T]GTCTGTACACTAACT | 55250 |
rs1631346 | snp | G/T | 0.44333 | 0.158505 | upstream-variant-2KB, utr-variant-5-prime | SLC39A6, ELP2 | GRCh38.p7 | 18:36129701 | AAAGGCCTGGCTCGT[G/T]CGCGGAGCGGGGCCA | 55250 |
rs1632169 | snp | C/G | 0.370365 | 0.219117 | upstream-variant-2KB, utr-variant-5-prime | SLC39A6, ELP2 | GRCh38.p7 | 18:36129799 | GAGTCTCAGGGGGGC[C/G]GGGCTGCCTCCGTCT | 55250 |
rs1785900 | snp | C/T | 0.442655 | 0.159323 | upstream-variant-2KB, intron-variant | SLC39A6, ELP2 | GRCh38.p7 | 18:36130207 | AGCGGGGTTTGGGCT[C/T]GGAGTCTCCAGTGGA | 55250 |
rs1785903 | snp | C/G | 0.443195 | 0.158668 | intron-variant, upstream-variant-2KB | ELP2, SLC39A6 | GRCh38.p7 | 18:36131679 | AAGGACAAACTTGCC[C/G]CTATATCACAGGACA | 55250 |
rs1785904 | snp | C/T | 0.43555 | 0.167544 | intron-variant | ELP2 | GRCh38.p7 | 18:36133169 | AAACACTGAAATCTG[C/T]TTTTACTTATTTATT | 55250 |
rs1785905 | snp | A/T | 0.451503 | 0.147975 | intron-variant | ELP2 | GRCh38.p7 | 18:36133324 | GGATGGCTGTAAGTA[A/T]TAACCAGATTTTAAA | 55250 |
rs1785906 | snp | C/T | 0.0310518 | 0.120672 | intron-variant | ELP2 | GRCh38.p7 | 18:36152902 | ccaaagggtgtagtg[C/T]taaggaattgttcca | 55250 |
rs1785907 | snp | C/T | 0.436976 | 0.165952 | intron-variant | ELP2 | GRCh38.p7 | 18:36151959 | gttgaccagcctggc[C/T]aacatggtgaaactc | 55250 |
rs1785908 | snp | C/T | 0.491157 | 0.065903 | intron-variant | ELP2 | GRCh38.p7 | 18:36151317 | agcgggtagactgct[C/T]gagcccaggagtctg | 55250 |
rs1785909 | snp | C/T | 0.370772 | 0.218893 | intron-variant | ELP2 | GRCh38.p7 | 18:36151210 | gtagtctcagctact[C/T]gggaggtggaggtgg | 55250 |
rs1785910 | snp | C/T | 0.437401 | 0.165472 | intron-variant | ELP2 | GRCh38.p7 | 18:36149908 | atgtccaacaatggg[C/T]agagatatctcctcc | 55250 |
rs1785912 | snp | G/T | 0.355272 | 0.226755 | intron-variant, upstream-variant-2KB | SLC39A6, ELP2 | GRCh38.p7 | 18:36129043 | ACAGGCGTGGCGGGG[G/T]AGGGGTGGTTCTGCG | 55250 |
rs1785920 | snp | A/C | | | intron-variant | ELP2 | GRCh38.p7 | 18:36159152 | gagtcttgctctgtc[A/C]cccaggctggagtgc | 55250 |
rs1785921 | snp | G/T | 0.370568 | 0.219005 | intron-variant | ELP2 | GRCh38.p7 | 18:36157233 | ATTACTTCATAATTT[G/T]TATAATCCATGTACT | 55250 |
rs1785922 | snp | C/T | 0.0146672 | 0.084371 | intron-variant | ELP2 | GRCh38.p7 | 18:36156816 | TTTTAGTATTTAAAT[C/T]ATTACACCCCACAGT | 55250 |
rs1785923 | snp | A/C | 0.458084 | 0.138567 | intron-variant | ELP2 | GRCh38.p7 | 18:36148098 | tcaaaaaaaaaaaaa[A/C]aaaaaCCTGACCATG | 55250 |
rs1785924 | snp | A/C | 0.0490535 | 0.14873 | intron-variant | ELP2 | GRCh38.p7 | 18:36147595 | GAAACCCCGTCTCTA[A/C]TAAAAATACAAAATT | 55250 |
rs1785925 | snp | G/T | 0.436692 | 0.166271 | intron-variant | ELP2 | GRCh38.p7 | 18:36147223 | agctgggtgtggtga[G/T]gtgcacctgtagtcc | 55250 |
rs1785926 | snp | A/C/G | 0.642045 | 0.094671 | intron-variant | ELP2 | GRCh38.p7 | 18:36147103 | AAGATCCTGTTAAAA[A/C/G]AAAAAAAAAAAAAAA | 55250 |
rs1785927 | snp | C/G | 0.370162 | 0.219229 | intron-variant | ELP2 | GRCh38.p7 | 18:36146484 | TCACTTGAACTTCAA[C/G]TGCCTCTACTATGTT | 55250 |
rs1785928 | snp | C/T | 0.45052 | 0.149304 | missense, nc-transcript-variant | ELP2 | GRCh38.p7 | 18:36145968 | CAGATAATAATCTCA[C/T]TGGCTGCTGTAGGAC | 55250 |
rs1785929 | snp | C/T | 0.436408 | 0.16659 | intron-variant | ELP2 | GRCh38.p7 | 18:36145202 | CAATGTTCAATGGAA[C/T]TGAGTGTCCAGCAGA | 55250 |
rs1785930 | snp | C/T | 0.370974 | 0.218781 | intron-variant | ELP2 | GRCh38.p7 | 18:36143755 | GGTTTAGAAGAAAAA[C/T]ATTTCACATATGAAA | 55250 |
rs1785931 | snp | A/G | 0.435694 | 0.167385 | intron-variant | ELP2 | GRCh38.p7 | 18:36142144 | TAGACAAGAAAAAGC[A/G]TTCCTTTGGGAATGA | 55250 |
rs1785932 | snp | A/G | 0.361917 | 0.22355 | synonymous-codon, intron-variant, nc-transcript-variant | ELP2 | GRCh38.p7 | 18:36139471 | ACAGAGGGCGAGAGA[A/G]GCTGGTGGCTTCCAG | 55250 |
rs1785933 | snp | A/G | 0.370162 | 0.219229 | intron-variant | ELP2 | GRCh38.p7 | 18:36139228 | AAATGCTCATATGCC[A/G]TCTTCATTCAACACT | 55250 |
rs1785934 | snp | G/T | 0.450494 | 0.149338 | missense, utr-variant-5-prime, nc-transcript-variant | ELP2 | GRCh38.p7 | 18:36138363 | CAGAAACGATCAGTG[G/T]ACATAATGCAGGATC | 55250 |
rs1785935 | snp | C/G | 0.0490535 | 0.14873 | intron-variant | ELP2 | GRCh38.p7 | 18:36135791 | TGACAGTACCCAGCA[C/G]TTGTTCTGCAGAATG | 55250 |
rs1789497 | snp | C/T | 0.0368353 | 0.130617 | intron-variant | ELP2 | GRCh38.p7 | 18:36134278 | CTGTGAATAACTTCT[C/T]GATATCATTATGAAA | 55250 |
rs1789507 | snp | A/C | 0.436123 | 0.166908 | intron-variant | ELP2 | GRCh38.p7 | 18:36152391 | gacagcaagtttaat[A/C]aggcttcttgaacgg | 55250 |
rs1789508 | snp | A/G | 0.370772 | 0.218893 | intron-variant | ELP2 | GRCh38.p7 | 18:36156882 | TACAAAGCTGCATTA[A/G]TGTTCAATTGAGACA | 55250 |
rs1789510 | snp | A/G | 0.0146672 | 0.084371 | intron-variant | ELP2 | GRCh38.p7 | 18:36160285 | TTTTTTCTTTATTAA[A/G]AAGACTTGGCTGGGT | 55250 |
rs1789527 | snp | C/G | 0.370365 | 0.219117 | intron-variant | ELP2 | GRCh38.p7 | 18:36132266 | GGTCGTCGAAGATTT[C/G]CTGAATGAGCATCAT | 55250 |
rs1789544 | snp | A/G | 0.370365 | 0.219117 | intron-variant | ELP2 | GRCh38.p7 | 18:36147602 | acatggtgaaacccc[A/G]tctctaataaaaata | 55250 |
rs1789545 | snp | C/T | 0.0146672 | 0.084371 | intron-variant | ELP2 | GRCh38.p7 | 18:36147572 | ACAAAATTAGCCAGA[C/T]ATGGTGGTAGGCACC | 55250 |
rs1789546 | snp | A/C | 0.434068 | 0.169171 | intron-variant | ELP2 | GRCh38.p7 | 18:36145911 | CTTTAGGTGATCAAC[A/C]ATCATCATGTTTGTA | 55250 |
rs1789547 | snp | A/G | 0.369958 | 0.21934 | intron-variant | ELP2 | GRCh38.p7 | 18:36145742 | CAACAGACTACTACC[A/G]TGCAATAAAAACAAA | 55250 |
rs1789548 | snp | C/T | 0.370162 | 0.219229 | intron-variant | ELP2 | GRCh38.p7 | 18:36144333 | AGTTCTTTATAGAAG[C/T]GTAAGAATGGACAAA | 55250 |
rs1789549 | snp | C/T | 0.435694 | 0.167385 | intron-variant | ELP2 | GRCh38.p7 | 18:36142462 | TTCTAATTGGGACAA[C/T]AGAAAAACATAACAT | 55250 |
rs1789551 | snp | C/T | 0.43655 | 0.16643 | intron-variant | ELP2 | GRCh38.p7 | 18:36136129 | tacatacacacacac[C/T]ttttaggaggcaaac | 55250 |
rs1893270 | snp | C/T | 0.140919 | 0.224948 | | | GRCh38.p7 | 18:36136140 | cttcctctatataca[C/T]acacacacacctttt | 55250 |
rs1970663 | snp | C/T | 0.437824 | 0.164991 | intron-variant | ELP2 | GRCh38.p7 | 18:36169576 | TATTTTTAGTAGAGA[C/T]GGGGTTTCACTATGT | 55250 |
rs2032206 | snp | A/G | 0.494774 | 0.0508504 | intron-variant | ELP2 | GRCh38.p7 | 18:36172860 | TTATGGTGACTTAGG[A/G]TTTGCAAGATGGAAC | 55250 |
rs2186982 | snp | A/G | 0.17138 | 0.237316 | intron-variant | ELP2 | GRCh38.p7 | 18:36169677 | TTTTGGGCTGGGCGC[A/G]GTGGCTCATGCCTGT | 55250 |
rs2276112 | snp | G/T | 0.00438332 | 0.0466095 | intron-variant | ELP2 | GRCh38.p7 | 18:36158980 | TGTAACAAACATTAG[G/T]TAGACATTACACAAG | 55250 |
rs2276141 | snp | C/T | 0.0138799 | 0.0821421 | intron-variant | ELP2 | GRCh38.p7 | 18:36170990 | ACTTTAGAGCAATGA[C/T]GAAGATAACAATTTC | 55250 |
rs2625059 | snp | A/G | | | intron-variant | ELP2 | GRCh38.p7 | 18:36169572 | tttgtatttttagta[A/G]agacggggtttcact | 55250 |
rs2625060 | snp | G/T | | | intron-variant | ELP2 | GRCh38.p7 | 18:36170326 | CTTTTTTTTTTTTTG[G/T]TTTGAGATGGAGTCT | 55250 |
rs2847514 | snp | A/G | | | intron-variant | ELP2 | GRCh38.p7 | 18:36165253 | GCCAGGTTCAGAGTA[A/G]AATGTGGGTAGGTGG | 55250 |
rs3737468 | snp | A/G | 0.172674 | 0.237741 | intron-variant | ELP2 | GRCh38.p7 | 18:36146522 | TTTCAATACCTTAAC[A/G]ATGTCTACAGAAAAA | 55250 |
rs3737470 | snp | C/T | 0.464309 | 0.12873 | intron-variant | ELP2 | GRCh38.p7 | 18:36144720 | TCCTTATATTCTGTT[C/T]TAGCTGGTCATAAAT | 55250 |
rs3737471 | snp | A/G | 0.133435 | 0.221162 | intron-variant | ELP2 | GRCh38.p7 | 18:36142753 | AAGACTTTTTTGTCT[A/G]TAATATATATATTTC | 55250 |
rs3737472 | snp | C/T | 0.000181282 | 0.00951883 | intron-variant | ELP2 | GRCh38.p7 | 18:36141120 | TGGGGGAAGAAAAAA[C/T]AGGCTTCACTGTGAG | 55250 |
rs3737473 | snp | C/T | 0.102014 | 0.201495 | intron-variant | ELP2 | GRCh38.p7 | 18:36139081 | CATTTAAATTATCAA[C/T]GGCTATCAAAATCCT | 55250 |
rs3786272 | snp | A/C | 0.476833 | 0.105105 | intron-variant | ELP2 | GRCh38.p7 | 18:36157117 | TCATTGTATTGGAAT[A/C]ACGAGAACATGTTTA | 55250 |
rs3786275 | snp | G/T | 0.04875 | 0.148319 | intron-variant | ELP2 | GRCh38.p7 | 18:36170506 | TTTAATAGAGATGGG[G/T]TTTCACCATGTTGGT | 55250 |
rs3819174 | snp | A/G | 0.498818 | 0.0273013 | intron-variant | ELP2 | GRCh38.p7 | 18:36141362 | TACTTGGTGTTCAGA[A/G]TAGACAACCATCTTA | 55250 |