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Links from Gene

Items: 1 to 20 of 575

1.

rs1489237848 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    4:109487268 (GRCh38)
    4:110408424 (GRCh37)
    Canonical SPDI:
    NC_000004.12:109487267:A:T
    Gene:
    SEC24B (Varview), MIR576 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000021/3 (GnomAD)
    T=0.000034/9 (TOPMED)
    HGVS:
    2.

    rs1488308528 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      4:109487256 (GRCh38)
      4:110408412 (GRCh37)
      Canonical SPDI:
      NC_000004.12:109487255:A:G
      Gene:
      SEC24B (Varview), MIR576 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1487964198 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        4:109486891 (GRCh38)
        4:110408047 (GRCh37)
        Canonical SPDI:
        NC_000004.12:109486890:G:A
        Gene:
        SEC24B (Varview), MIR576 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000014/2 (GnomAD)
        A=0.000023/6 (TOPMED)
        HGVS:
        4.

        rs1486778593 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          4:109488662 (GRCh38)
          4:110409818 (GRCh37)
          Canonical SPDI:
          NC_000004.12:109488661:A:G
          Gene:
          SEC24B (Varview), MIR576 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1485614469 has merged into rs372133489 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            4:109487177 (GRCh38)
            4:110408333 (GRCh37)
            Canonical SPDI:
            NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA
            Gene:
            SEC24B (Varview), MIR576 (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000004.12:g.109487177_109487184del, NC_000004.12:g.109487178_109487184del, NC_000004.12:g.109487179_109487184del, NC_000004.12:g.109487180_109487184del, NC_000004.12:g.109487181_109487184del, NC_000004.12:g.109487182_109487184del, NC_000004.12:g.109487183_109487184del, NC_000004.12:g.109487184del, NC_000004.12:g.109487184dup, NC_000004.12:g.109487183_109487184dup, NC_000004.12:g.109487182_109487184dup, NC_000004.12:g.109487180_109487184dup, NC_000004.12:g.109487179_109487184dup, NC_000004.12:g.109487184_109487185insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.109487166_109487184A[44]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.110408333_110408340del, NC_000004.11:g.110408334_110408340del, NC_000004.11:g.110408335_110408340del, NC_000004.11:g.110408336_110408340del, NC_000004.11:g.110408337_110408340del, NC_000004.11:g.110408338_110408340del, NC_000004.11:g.110408339_110408340del, NC_000004.11:g.110408340del, NC_000004.11:g.110408340dup, NC_000004.11:g.110408339_110408340dup, NC_000004.11:g.110408338_110408340dup, NC_000004.11:g.110408336_110408340dup, NC_000004.11:g.110408335_110408340dup, NC_000004.11:g.110408340_110408341insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.110408322_110408340A[44]CAAAAAAAAAAAAAAAAAAAAA[1], NG_032166.1:g.58363_58370del, NG_032166.1:g.58364_58370del, NG_032166.1:g.58365_58370del, NG_032166.1:g.58366_58370del, NG_032166.1:g.58367_58370del, NG_032166.1:g.58368_58370del, NG_032166.1:g.58369_58370del, NG_032166.1:g.58370del, NG_032166.1:g.58370dup, NG_032166.1:g.58369_58370dup, NG_032166.1:g.58368_58370dup, NG_032166.1:g.58366_58370dup, NG_032166.1:g.58365_58370dup, NG_032166.1:g.58370_58371insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032166.1:g.58352_58370A[44]CAAAAAAAAAAAAAAAAAAAAA[1]
            6.

            rs1485145348 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              4:109488214 (GRCh38)
              4:110409370 (GRCh37)
              Canonical SPDI:
              NC_000004.12:109488213:C:A,NC_000004.12:109488213:C:T
              Gene:
              SEC24B (Varview), MIR576 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1484456009 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:109486721 (GRCh38)
                4:110407877 (GRCh37)
                Canonical SPDI:
                NC_000004.12:109486720:A:G
                Gene:
                SEC24B (Varview), MIR576 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1481904354 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  4:109489111 (GRCh38)
                  4:110410267 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:109489110:A:G
                  Gene:
                  SEC24B (Varview), MIR576 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  G=0.000342/1 (KOREAN)
                  G=0.001557/26 (TOMMO)
                  HGVS:
                  9.

                  rs1481870526 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTCTTTT>- [Show Flanks]
                    Chromosome:
                    4:109489132 (GRCh38)
                    4:110410288 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:109489125:TCTTTTTTCTTTT:TCTTTT
                    Gene:
                    SEC24B (Varview), MIR576 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TCTTTT=0.000071/1 (ALFA)
                    -=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1478788295 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      4:109486888 (GRCh38)
                      4:110408044 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:109486887:G:A
                      Gene:
                      SEC24B (Varview), MIR576 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1478583643 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        4:109488779 (GRCh38)
                        4:110409935 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:109488778:T:G
                        Gene:
                        SEC24B (Varview), MIR576 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.0002/1 (ALFA)
                        G=0.0002/1 (Estonian)
                        HGVS:
                        12.

                        rs1474242084 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          4:109487757 (GRCh38)
                          4:110408913 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:109487756:A:G
                          Gene:
                          SEC24B (Varview), MIR576 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1473929818 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            G>T
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1473116798 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              4:109487714 (GRCh38)
                              4:110408870 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:109487713:G:C
                              Gene:
                              SEC24B (Varview), MIR576 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000029/4 (GnomAD)
                              C=0.000042/11 (TOPMED)
                              HGVS:
                              15.

                              rs1472982326 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G [Show Flanks]
                                Chromosome:
                                4:109486796 (GRCh38)
                                4:110407952 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:109486795:A:C,NC_000004.12:109486795:A:G
                                Gene:
                                SEC24B (Varview), MIR576 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1472315985 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  4:109488773 (GRCh38)
                                  4:110409929 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:109488772:C:T
                                  Gene:
                                  SEC24B (Varview), MIR576 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000041/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1471353331 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    4:109489272 (GRCh38)
                                    4:110410428 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:109489271:G:C
                                    Gene:
                                    SEC24B (Varview), MIR576 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1469402519 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      4:109487626 (GRCh38)
                                      4:110408782 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:109487625:A:G
                                      Gene:
                                      SEC24B (Varview), MIR576 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1469310106 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        4:109488966 (GRCh38)
                                        4:110410122 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:109488965:T:A
                                        Gene:
                                        SEC24B (Varview), MIR576 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1467175704 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          4:109487970 (GRCh38)
                                          4:110409126 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:109487969:G:C
                                          Gene:
                                          SEC24B (Varview), MIR576 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000011/3 (TOPMED)
                                          C=0.000021/3 (GnomAD)
                                          HGVS:

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