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Items: 16

1.

rs13281615 [Homo sapiens]
    GTAACTATGAATCTCATCAAAAGAA[A/G]GCAGAACGCAGATATTCTGAGTAGG
    Chromosome:
    8:127343372
    Gene:
    CASC21 (GeneView) CASC8 (GeneView)
    Functional Consequence:
    intron variant
    Validated:
    by 1000G,by 2hit 2allele,by cluster,by frequency,by hapmap
    Global MAF:
    G=0.4912/2460
    HGVS:
    NC_000008.10:g.128355618A>G, NC_000008.11:g.127343372A>G, NR_117099.1:n.457+3937A>G, NR_117099.1:n.457+3938A>G, NR_117100.1:n.1177-53312T>C, NR_117100.1:n.1177-53313T>C
    2.

    rs12443621 [Homo sapiens]
      CGTTTTATATGCATTAGGCCTGGCA[A/G]TGAACTTGAGGTAGGTATTACTATC
      Chromosome:
      16:52514125
      Gene:
      TOX3 (GeneView)
      Functional Consequence:
      intron variant
      Validated:
      by 1000G,by 2hit 2allele,by cluster,by frequency,by hapmap
      Global MAF:
      G=0.4906/2457
      HGVS:
      NC_000016.10:g.52514125A>G, NC_000016.9:g.52548037A>G, NG_012623.1:g.38678T>C, NM_001080430.3:c.87+32512T>C, NM_001146188.2:c.75+5281T>C, XM_005255892.1:c.87+32512T>C, XM_005255892.3:c.87+32512T>C, XM_005255893.1:c.75+5281T>C, XM_017023142.1:c.75+5281T>C
      4.

      rs8051542 [Homo sapiens]
        TTTAAACATTTAGGTTATTAGAGGA[C/T]GCAGCACTATGATTGGAGCAAAAAC
        Chromosome:
        16:52500255
        Gene:
        TOX3 (GeneView)
        Functional Consequence:
        intron variant
        Validated:
        by 1000G,by cluster,by frequency,by hapmap
        Global MAF:
        T=0.3133/1569
        HGVS:
        NC_000016.10:g.52500255T>C, NC_000016.9:g.52534167T>C, NG_012623.1:g.52548A>G, NM_001080430.3:c.88-31681A>G, NM_001146188.2:c.75+19151A>G, XM_005255892.1:c.88-31681A>G, XM_005255892.3:c.88-31681A>G, XM_005255893.1:c.75+19151A>G, XM_017023142.1:c.75+19151A>G
        6.

        rs6469633 [Homo sapiens]
          TTAAAACCTTAGTTCTTTTTTAAAA[C/T]TCCAGTTCTTTTTTAcaccccattt
          Chromosome:
          8:116124002
          Gene:
          LINC00536 (GeneView)
          Functional Consequence:
          intron variant
          Validated:
          by 1000G,by 2hit 2allele,by cluster,by frequency,by hapmap
          Global MAF:
          C=0.3678/1842
          HGVS:
          NC_000008.10:g.117136227T>C, NC_000008.11:g.116124002T>C, NR_046215.1:n.1463+1370A>G
          7.

          rs4666451 [Homo sapiens]
            tttggatagctgcataatgttctat[A/G]tgatggatattacatgattcttgaa
            Chromosome:
            2:19087182
            Validated:
            by 1000G,by 2hit 2allele,by cluster,by frequency,by hapmap
            Global MAF:
            A=0.2376/1190
            HGVS:
            NC_000002.11:g.19286943G>A, NC_000002.12:g.19087182G>A
            8.
            9.

            rs3803662 [Homo sapiens]
              TCTCCTTAATGCCTCTATAGCTGTC[C/T]CTTAGCGAAGAATAAAACTGTGGAC
              Chromosome:
              16:52552429
              Gene:
              CASC16 (GeneView)
              Functional Consequence:
              nc transcript variant
              Validated:
              by 1000G,by 2hit 2allele,by cluster,by frequency,by hapmap
              Global MAF:
              A=0.4403/2205
              HGVS:
              NC_000016.10:g.52552429A>G, NC_000016.9:g.52586341A>G, NG_012623.1:g.374T>C, NR_033920.1:n.659T>C, XR_243421.1:n.92T>C
              11.

              rs2298075 [Homo sapiens]
                GTCCAGCTTCATGCCTATCCTGAAG[G/T]CTGTCCTCATCATCGCTCATAAGCT
                Chromosome:
                10:100487651
                Gene:
                SEC31B (GeneView)
                Functional Consequence:
                missense
                Validated:
                by 1000G,by 2hit 2allele,by cluster,by frequency,by hapmap
                Global MAF:
                A=0.1889/946
                HGVS:
                NC_000010.10:g.102247408C>A, NC_000010.11:g.100487651C>A, NM_015490.3:c.3505G>T, NP_056305.1:p.Ala1169Ser, XM_005269676.1:c.3754G>T, XM_005269677.1:c.3754G>T, XM_005269678.1:c.3283G>T, XM_005269679.1:c.1798G>T, XM_005269680.1:c.1762G>T, XP_005269733.1:p.Ala1252Ser, XP_005269734.1:p.Ala1252Ser, XP_005269735.1:p.Ala1095Ser, XP_005269736.1:p.Ala600Ser, XP_005269737.1:p.Ala588Ser
                12.

                rs2107425 [Homo sapiens]
                  CGACCTGAAGATCTGGTGCGGCTCC[C/T]ATGAGTGTCCTATTCCCAGATGACC
                  Chromosome:
                  11:1999845
                  Gene:
                  H19 (GeneView) MRPL23 (GeneView)
                  Functional Consequence:
                  intron variant,upstream variant 2KB
                  Validated:
                  by 1000G,by 2hit 2allele,by cluster,by frequency,by hapmap,by submitter
                  Global MAF:
                  T=0.4479/2243
                  HGVS:
                  NC_000011.10:g.1999845C>T, NC_000011.9:g.2021075C>T, NG_016165.1:g.2991G>A, NR_002196.2:n.-1970G>A, NR_131223.1:n.-1970G>A, NR_131224.1:n.249+1373G>A, XM_011520273.1:c.498-11696C>T, XM_011520275.2:c.498-11696C>T
                  13.

                  rs981782 [Homo sapiens]
                    TTTTCAGATAACAATCTTGAAATTT[G/T]TCTCAGGGACCATGAAAATGAATAA
                    Chromosome:
                    5:45285616
                    Gene:
                    HCN1 (GeneView)
                    Functional Consequence:
                    intron variant
                    Validated:
                    by 1000G,by cluster,by frequency,by hapmap
                    Global MAF:
                    C=0.2696/1350
                    HGVS:
                    NC_000005.10:g.45285616A>C, NC_000005.9:g.45285718A>C, NG_042183.1:g.415503T>G, NM_021072.3:c.1618+17983T>G
                    14.

                    rs889312 [Homo sapiens]
                      CTGAGATGCCCCTGCTGGAGAAAGG[A/C]ATGTGCAAATTAAGAGACTACAAAT
                      Chromosome:
                      5:56736057
                      Validated:
                      by 1000G,by 2hit 2allele,by cluster,by frequency,by hapmap,by submitter
                      Global MAF:
                      C=0.3870/1938
                      HGVS:
                      NC_000005.10:g.56736057C>A, NC_000005.9:g.56031884C>A
                      15.

                      rs684340 [Homo sapiens]
                        ATCACTGTATTAGATCTAACAGTAT[A/G]AGGACTCTGTATCTAGTTTTAGTTT
                        Chromosome:
                        6:157748231
                        Gene:
                        SNX9 (GeneView)
                        Functional Consequence:
                        intron variant
                        Validated:
                        by 1000G,by cluster,by frequency,by submitter
                        Global MAF:
                        G=0.1731/867
                        HGVS:
                        NC_000006.11:g.158169263G>A, NC_000006.12:g.157748231G>A, XM_005267015.1:c.-205-18154G>A, XM_005267015.2:c.-205-18154G>A
                        16.

                        rs30099 [Homo sapiens]
                          CCTTGCAGCATTGGTCTGTATCTTC[C/T]CCCGAAATTATTCTTTCAAGTAAAC
                          Chromosome:
                          5:53122752
                          Validated:
                          by 1000G,by 2hit 2allele,by cluster,by frequency,by hapmap
                          Global MAF:
                          A=0.1937/970
                          HGVS:
                          NC_000005.10:g.53122752G>A, NC_000005.9:g.52418582G>A

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