SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs721896 | snp | A/T | 0.0391387 | 0.134304 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32923166 | gacaaggtctagctg[A/T]gttgcccaggctgga | 388795 |
rs871103 | snp | C/T | 0.282632 | 0.247861 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32893470 | GCTGCCCCCCATCGC[C/T]TCTCCCTCTGTGCTG | 388795 |
rs871104 | snp | C/T | 0.265727 | 0.249505 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32893721 | CATCCAGGACAGCCC[C/T]TGCCCACCCAAAGGC | 388795 |
rs967475 | snp | G/T | 0.233235 | 0.249437 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32943363 | CATATGCAAGTCATA[G/T]GCAAGTCATATGTAG | 388795 |
rs1000618 | snp | C/G | 0 | 0 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32902930 | TGACCCCCGGCGTCT[C/G]CCCGACTGTCCCCTC | 388795 |
rs1116583 | snp | C/T | | | intron-variant | EFCAB8 | GRCh38.p7 | 20:32951145 | gcattttggcagttt[C/T]ttaaaaagttaaatg | 388795 |
rs1181342 | snp | G/T | 0 | 0 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32921295 | ACTCCTGGGCTGAAG[G/T]GACCCTCCCACCTCA | 388795 |
rs1181343 | snp | A/G | 0 | 0 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32921329 | TTGTGAGTAGCTGGG[A/G]CTATAGGCATGCTCC | 388795 |
rs1181344 | snp | A/T | 0 | 0 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32921342 | GGGCTATAGGCATGC[A/T]CCATTATGCCCAGCT | 388795 |
rs1467795 | snp | A/G | 0.491263 | 0.0655142 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32902818 | GTGAGGCTGGCTGCA[A/G]GGAAGCCAGACCCTC | 388795 |
rs1858621 | snp | A/G | 0.489492 | 0.0717183 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32954718 | TTTTCTCTATTTCTA[A/G]TTAGCCAAGAGAGTT | 388795 |
rs1891776 | snp | A/G | 0.490231 | 0.0692021 | | | GRCh38.p7 | 20:32956284 | gaaagaaataataat[A/G]acaatgtcttatagg | 388795 |
rs1891777 | snp | A/T | 0.489837 | 0.0705577 | | | GRCh38.p7 | 20:32956089 | AAAACAACAATTTTT[A/T]AAATATTTGATTAAT | 388795 |
rs1891868 | snp | C/T | 0.369142 | 0.219784 | | | GRCh38.p7 | 20:32951302 | CCATCAATAGTTGAG[C/T]TGATAAACTATGGTT | 388795 |
rs1936201 | snp | A/T | 0.0023933 | 0.0345097 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32958326 | CAAGGGTCAGCTAGC[A/T]GCCCCTATCCTCAGC | 388795 |
rs1936202 | snp | A/T | 0.332106 | 0.236133 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32957099 | atcaaatggacattc[A/T]aaaactaaaaaaata | 388795 |
rs1936307 | snp | G/T | 0.3742 | 0.216966 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32941722 | AGTTGGGGAAATTGC[G/T]TAGTGACTACTGGGT | 388795 |
rs1936308 | snp | C/T | 0.36955 | 0.219562 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32949931 | cttgaacctgggagg[C/T]ggaggctgcagtgag | 388795 |
rs1936309 | snp | C/G | 0.494143 | 0.0537956 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32919956 | GCTGCTTTTCCCAGG[C/G]CAGTGTACCTACTGC | 388795 |
rs2000291 | snp | A/G | 0.381503 | 0.21262 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32871729 | TGCGGGCTCCATACC[A/G]TGTCTTAGGCACCCC | 388795 |
rs2001639 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32892959 | gattctcctgcctca[A/G]cctcctgagtagctg | 388795 |
rs2002257 | snp | C/T | 0.499891 | 0.00738737 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32892982 | AGTAGCTGGGATTAC[C/T]GGTGCCCGCCACCAC | 388795 |
rs2014837 | snp | C/T | 0.403158 | 0.197592 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32873276 | GAGCCCCCTGAACTC[C/T]GAGGATGTTGGCCAG | 388795 |
rs2017440 | snp | A/G | 0.039522 | 0.134904 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32923314 | tattttagtagagac[A/G]gggtttcaccgtgtt | 388795 |
rs2019219 | snp | C/T | 0.469445 | 0.119766 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32891277 | ACCAGAATTCAATAT[C/T]TTTTTTTCAACCAAA | 388795 |
rs2019230 | snp | A/G | 0.46865 | 0.121211 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32891217 | GAGGCTGAGGCAGGA[A/G]AATCTCTTGAACCCG | 388795 |
rs2051119 | snp | A/G | 0.369754 | 0.219451 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32956125 | CTCTGCTCTTTAAAT[A/G]GTATCTTTTGTATTA | 388795 |
rs2184150 | snp | A/C | 0 | 0 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32902649 | TCTGCATGCAGTGCA[A/C]TGTACAGGCCGGCAG | 388795 |
rs2377733 | snp | C/T | 0.444626 | 0.15691 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32893132 | aggtgtgagccaccg[C/T]gcccagccCACACAA | 388795 |
rs2377734 | snp | C/T | 0.471846 | 0.115258 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32893155 | CCACACAACCTCTTC[C/T]GTCTCCATCTTTCTG | 388795 |
rs2377735 | snp | C/T | 0.234109 | 0.249494 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32934965 | caagggttttctttt[C/T]tctgcctcctcacca | 388795 |
rs4243972 | snp | C/T | 0.488905 | 0.0736498 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32869487 | gtgatccgcctgcct[C/T]agcctcccaaagtgc | 388795 |
rs4264628 | snp | A/C | 0.021333 | 0.101051 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32869424 | tatttttagtagaga[A/C]ggggtttctccatgt | 388795 |
rs4287835 | snp | C/T | 0.409382 | 0.192607 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32869531 | gtgagctgctgtgcc[C/T]ggccaggtgttgcaa | 388795 |
rs4327299 | snp | A/G/T | 0.0185938 | 0.0946107 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32872965 | AGTGTGATGGTGGGC[A/G/T]CCTGTAATCCCAGCT | 388795 |
rs4911269 | snp | A/T | 0.489608 | 0.0713316 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32880186 | CAGGCCACGGGGAAG[A/T]CAAAGAGCTGGAAGG | 388795 |
rs4911270 | snp | A/G | 0.093777 | 0.195178 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32881685 | gtgcctatctggatc[A/G]ttggtagcaaagcta | 388795 |
rs4911271 | snp | A/G | 0.499732 | 0.0115784 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32885374 | GTTTATGGCGTGCGC[A/G]TGTGCGTGCGTGTGC | 388795 |
rs4911272 | snp | G/T | 0.498547 | 0.0269177 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32885376 | TTATGGCGTGCGCAT[G/T]TGCGTGCGTGTGCGT | 388795 |
rs4911273 | snp | A/G | 0.375399 | 0.216275 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32890647 | GAATTAGTACATGAA[A/G]TGACAGCTGGTGATG | 388795 |
rs5841120 | in-del | -/T | 0.389903 | 0.207189 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32921201 | CTCTCCTTTTTTTTT[-/T]CTTGAGACAGGGTCT | 388795 |
rs6057660 | snp | C/T | | | intron-variant | EFCAB8 | GRCh38.p7 | 20:32865580 | aggcaggaggatcac[C/T]tgaggtcaggagttc | 388795 |
rs6057661 | snp | C/T | 0.39214 | 0.205661 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32870081 | CCTATTTACCTGCCC[C/T]GTGAATTTCTTTTGA | 388795 |
rs6057662 | snp | C/T | 0.388964 | 0.20782 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32870159 | CAGTTTACGAACGAG[C/T]AAAGTGAGACCTAGG | 388795 |
rs6057663 | snp | G/T | 0.402982 | 0.197728 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32875265 | TGTGAGGACAGAAGC[G/T]TCCGGAATTGGCCTA | 388795 |
rs6057664 | snp | A/C | 0 | 0 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32875414 | GGAGCCATCTCCCTT[A/C]TGTGCCCCCTGCAGT | 388795 |
rs6057665 | snp | A/G | 0.402982 | 0.197728 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32875654 | GGATTGCAGGTACCC[A/G]CCACTGTGCCCAGCC | 388795 |
rs6057666 | snp | A/G | 0.0115144 | 0.0749975 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32877532 | TTCTCTTAATGTTCT[A/G]TAATAAACATTTCCT | 388795 |
rs6057667 | snp | A/G | 0 | 0 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32903382 | GCTTATGTCCCTTGC[A/G]GGACTCGCCATGATT | 388795 |
rs6057668 | snp | C/T | | | intron-variant | EFCAB8 | GRCh38.p7 | 20:32904118 | tcctgcctcactttc[C/T]taagtagctgggact | 388795 |
rs6057669 | snp | A/G | 0.491157 | 0.065903 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32904567 | gcctgccaaagtgct[A/G]ggattgcaggtgtga | 388795 |
rs6057670 | snp | C/T | 0 | 0 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32914191 | CCACAGGAGCCACAC[C/T]TAGAGTGGTCAAGGA | 388795 |
rs6057671 | snp | A/C | 0.49423 | 0.0534032 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32914751 | atccactcacctcct[A/C]ccaggtccctccctc | 388795 |
rs6057673 | snp | A/G | 0.332106 | 0.236133 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32932914 | CTAGTTCGTTTTAGT[A/G]TGAAGAGAATGTCAT | 388795 |
rs6057674 | snp | C/T | 0.488302 | 0.0755777 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32933379 | TAGACATTTCTGAGG[C/T]ACAGTGTGCTGTTTT | 388795 |
rs6057675 | snp | A/G | 0.177182 | 0.23916 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32935116 | gttggccatttgaat[A/G]tcttcttttgagaaa | 388795 |
rs6057676 | snp | C/T | | | intron-variant | EFCAB8 | GRCh38.p7 | 20:32937229 | aggtgatccgactgc[C/T]tcggcctcccaaagt | 388795 |
rs6057677 | snp | A/C | 0.490231 | 0.0692021 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32947459 | tctggtaacaaaaca[A/C]atctcactaatctca | 388795 |
rs6058912 | snp | C/T | 0 | 0 | upstream-variant-2KB | EFCAB8 | GRCh38.p7 | 20:32859968 | ggtctcttgagtcac[C/T]tttcatctctaacag | 388795 |
rs6058913 | snp | C/T | 0 | 0 | upstream-variant-2KB | EFCAB8 | GRCh38.p7 | 20:32860045 | cgcggtgactcacgc[C/T]tgtaatcccagcact | 388795 |
rs6058914 | snp | C/T | | | intron-variant | EFCAB8 | GRCh38.p7 | 20:32861371 | tcggctcaccgcaac[C/T]tccgcctcctggatt | 388795 |
rs6058915 | snp | A/G | 0.453331 | 0.145452 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32861384 | ACCTCCGCCTCCTGG[A/G]TTCAAGCAGTTCTCC | 388795 |
rs6058916 | snp | C/G | 0.45235 | 0.146814 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32862858 | GGTCTCATTTGAACT[C/G]TTGACCTCAGGCAAT | 388795 |
rs6058917 | snp | A/T | 0.457388 | 0.139608 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32863216 | GGATTGGTGCTCCAA[A/T]GACCCTAACAAAACG | 388795 |
rs6058919 | snp | A/G/T | 0.00716625 | 0.0594738 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32866256 | TAGTTGGGGCTAAGT[A/G/T]GGGGAGAGTGAGCAA | 388795 |
rs6058920 | snp | C/T | | | intron-variant | EFCAB8 | GRCh38.p7 | 20:32868015 | ctaattaaaattttt[C/T]ttttttttttagaaa | 388795 |
rs6058921 | snp | C/T | 0.00874735 | 0.0655527 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32870289 | GGACTCCATTGGTAC[C/T]GACCTTGGCCATCGT | 388795 |
rs6058922 | snp | G/T | 0.402465 | 0.201994 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32870967 | aggttcaagtgattc[G/T]cctgtctcagcctcc | 388795 |
rs6058923 | snp | C/T | | | intron-variant | EFCAB8 | GRCh38.p7 | 20:32875754 | cctcaagtgatccac[C/T]tgcctcagcctccca | 388795 |
rs6058924 | snp | A/G | 0.398534 | 0.201091 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32876661 | GAATCCTATGGGGTA[A/G]GTGCTATTACTTACC | 388795 |
rs6058925 | snp | A/G | 0.398534 | 0.201091 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32877568 | ACAATGAGGCCAACT[A/G]AAAGAAAAAGAATAA | 388795 |
rs6058926 | snp | C/T | 0.398534 | 0.201091 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32877644 | CCCAGTGGTCCTTGT[C/T]TACAACCCCGTTTCT | 388795 |
rs6058927 | snp | A/G | 0 | 0 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32880882 | GGGCTGTGGGAGTTA[A/G]GAACTGTGGGCAAAA | 388795 |
rs6058930 | snp | A/G | 0.392696 | 0.205275 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32881771 | gagttccaaactcgc[A/G]agccatttttaccat | 388795 |
rs6058931 | snp | C/T | 0.40263 | 0.198 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32883206 | tgatatcacccaaga[C/T]atctgggtatttcag | 388795 |
rs6058932 | snp | A/G | 0.499946 | 0.00519141 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32883251 | ttatatccttcagtc[A/G]taggggtagcttcag | 388795 |
rs6058934 | snp | C/T | 0 | 0 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32884601 | GTGGCTTGGGTTATC[C/T]TTAAGCCCAGGGTCA | 388795 |
rs6058935 | snp | A/C | 0.498632 | 0.0261223 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32886641 | GTGGCTTCCATAGCC[A/C]TCCACCTTACCTTTC | 388795 |
rs6058936 | snp | A/G | | | intron-variant | EFCAB8 | GRCh38.p7 | 20:32889085 | aggggttttaaagaa[A/G]gtgttctttaagccc | 388795 |
rs6058937 | snp | A/G | 0.499295 | 0.0187567 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32889591 | GCTCGAATGAATACA[A/G]TGATGTTGAACAGAC | 388795 |
rs6058939 | snp | A/G | 0.00755907 | 0.0610114 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32890167 | GCCTTCAGAGGTCTG[A/G]GCCCTGCCGCCTCCA | 388795 |
rs6058940 | snp | A/G | 0 | 0 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32891344 | TTTGTTGGCTCATCA[A/G]GTGTctgggattaca | 388795 |
rs6058941 | snp | A/G | 0.497416 | 0.0358495 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32891762 | CAGATGCGGGAGACA[A/G]CATGACGGTGAGGCT | 388795 |
rs6058942 | snp | A/G | 0.497416 | 0.0358495 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32891922 | CAGTCTCAAACTCCT[A/G]GGCTCAAGCAGTCCT | 388795 |
rs6058943 | snp | C/T | 0.499793 | 0.0101816 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32894295 | GGCCCCTGGCAGGCT[C/T]GTTGGGGCAGCGTCC | 388795 |
rs6058944 | snp | C/T | 0.487809 | 0.0771174 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32894619 | GGACTTGGGAGGAGA[C/T]GGACAGACCCAGGTA | 388795 |
rs6058945 | snp | A/G | 0.490175 | 0.0693959 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32895608 | gcagagtcttgctct[A/G]ttgcccaggctggag | 388795 |
rs6058946 | snp | G/T | 0.39527 | 0.203462 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32895900 | aactcctggcctcaa[G/T]tgaccttcccacctg | 388795 |
rs6058947 | snp | C/T | | | intron-variant | EFCAB8 | GRCh38.p7 | 20:32897557 | aggtgatcctcccac[C/T]tcaggcccccgagta | 388795 |
rs6058948 | snp | A/G | 0.498693 | 0.0255257 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32898400 | CCGTGATCTCTGGGC[A/G]CCTCCAGTCCCAGCA | 388795 |
rs6058949 | snp | C/T | 0.413416 | 0.189196 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32898753 | TAGTTTTTCCAGCAT[C/T]GCCAGCAGCAGCACG | 388795 |
rs6058950 | snp | C/G | 0.490673 | 0.0676508 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32901908 | GGCCAGGATGGTCTT[C/G]ATCTCTTGACCTCAT | 388795 |
rs6058952 | snp | A/G | | | intron-variant | EFCAB8 | GRCh38.p7 | 20:32910365 | GAGGCCCAGGCAGCA[A/G]GCAGCACCTTGGTCC | 388795 |
rs6058953 | snp | A/G | 0 | 0 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32910421 | GGCAGCTGGGCATGA[A/G]GAGTTGCTTCTGAGG | 388795 |
rs6058954 | snp | A/G | 0 | 0 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32914115 | GTCCTTTGAAATCTA[A/G]GTGGTGGAGGCAGCC | 388795 |
rs6058955 | snp | C/G | 0.491157 | 0.065903 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32914553 | aattgactcacagtt[C/G]tgcatggctaggagg | 388795 |
rs6058956 | snp | A/T | 0.498503 | 0.0273153 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32915076 | ctaattaaaaaaaaa[A/T]tttttttatagagat | 388795 |
rs6058959 | snp | C/T | 0.424348 | 0.179172 | intron-variant | EFCAB8 | GRCh38.p7 | 20:32925779 | TAGCTTGCCATGGCT[C/T]CTTCTGAAGGGACCC | 388795 |
rs6058960 | snp | A/G | 9.09711e-05 | 0.00674368 | missense | EFCAB8 | GRCh38.p7 | 20:32930476 | GACGGCTACATCTAC[A/G]CCTGGTCCCTCCATG | 388795 |
rs6058961 | snp | A/G | 0.342518 | 0.232251 | missense | EFCAB8 | GRCh38.p7 | 20:32930492 | CCTGGTCCCTCCATG[A/G]GAATGGAGGCCTGCT | 388795 |