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Items: 1 to 20 of 789

1.

rs1490936892 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    2:216869374 (GRCh38)
    2:217734097 (GRCh37)
    Canonical SPDI:
    NC_000002.12:216869373:T:G
    Gene:
    IGFBP-AS1 (Varview), LINC01921 (Varview), LOC105373876 (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490472407 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:216867782 (GRCh38)
      2:217732505 (GRCh37)
      Canonical SPDI:
      NC_000002.12:216867781:A:G
      Gene:
      IGFBP-AS1 (Varview), LOC105373876 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000008/2 (TOPMED)
      ...more
      HGVS:
      3.

      rs1489930073 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C,T [Show Flanks]
        Chromosome:
        2:216866243 (GRCh38)
        2:217730966 (GRCh37)
        Canonical SPDI:
        NC_000002.12:216866242:G:C,NC_000002.12:216866242:G:T
        Gene:
        IGFBP-AS1 (Varview), LOC105373876 (Varview), LOC124906118 (Varview)
        Functional Consequence:
        intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000602/10 (TOMMO)
        ...more
        HGVS:
        4.

        rs1489519775 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:216866873 (GRCh38)
          2:217731596 (GRCh37)
          Canonical SPDI:
          NC_000002.12:216866872:G:A
          Gene:
          IGFBP-AS1 (Varview), LOC105373876 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000014/2 (GnomAD)
          A=0.000026/7 (TOPMED)
          ...more
          HGVS:
          5.

          rs1485303355 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            2:216867653 (GRCh38)
            2:217732376 (GRCh37)
            Canonical SPDI:
            NC_000002.12:216867652:T:C
            Gene:
            IGFBP-AS1 (Varview), LOC105373876 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs1484949096 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:216869195 (GRCh38)
              2:217733918 (GRCh37)
              Canonical SPDI:
              NC_000002.12:216869194:C:T
              Gene:
              IGFBP-AS1 (Varview), LINC01921 (Varview), LOC105373876 (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1484946297 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:216868267 (GRCh38)
                2:217732990 (GRCh37)
                Canonical SPDI:
                NC_000002.12:216868266:G:A
                Gene:
                IGFBP-AS1 (Varview), LOC105373876 (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000008/2 (TOPMED)
                A=0.000014/2 (GnomAD)
                ...more
                HGVS:
                8.

                rs1484007571 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  2:216869634 (GRCh38)
                  2:217734357 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:216869633:T:A
                  Gene:
                  IGFBP-AS1 (Varview), LINC01921 (Varview), LOC105373876 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1483950004 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:216866821 (GRCh38)
                    2:217731544 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:216866820:G:A
                    Gene:
                    IGFBP-AS1 (Varview), LOC105373876 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.00005/7 (GnomAD)
                    A=0.00006/16 (TOPMED)
                    ...more
                    HGVS:
                    10.

                    rs1483875104 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CTT>- [Show Flanks]
                      Chromosome:
                      2:216866383 (GRCh38)
                      2:217731106 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:216866382:CTT:
                      Gene:
                      IGFBP-AS1 (Varview), LOC105373876 (Varview), LOC124906118 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1482156696 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        2:216869768 (GRCh38)
                        2:217734491 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:216869767:T:C
                        Gene:
                        IGFBP-AS1 (Varview), LINC01921 (Varview), LOC105373876 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        C=0.00004/2 (GnomAD)
                        ...more
                        HGVS:
                        12.

                        rs1481509450 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          2:216868374 (GRCh38)
                          2:217733097 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:216868373:T:C
                          Gene:
                          IGFBP-AS1 (Varview), LOC105373876 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          ...more
                          HGVS:
                          13.

                          rs1480570244 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            2:216866800 (GRCh38)
                            2:217731523 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:216866799:T:G
                            Gene:
                            IGFBP-AS1 (Varview), LOC105373876 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1480529613 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->CCCCTCTCTGGGAT [Show Flanks]
                              Chromosome:
                              2:216867892 (GRCh38)
                              2:217732616 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:216867892:AT:ATCCCCTCTCTGGGAT
                              Gene:
                              IGFBP-AS1 (Varview), LOC105373876 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              ATCCCCTCTCTGGGAT=0.00042/5 (ALFA)
                              HGVS:
                              15.

                              rs1480510522 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                2:216868925 (GRCh38)
                                2:217733648 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:216868924:A:T
                                Gene:
                                IGFBP-AS1 (Varview), LINC01921 (Varview), LOC105373876 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000108/2 (ALFA)
                                T=0.000034/9 (TOPMED)
                                T=0.000114/16 (GnomAD)
                                T=0.000223/1 (Estonian)
                                ...more
                                HGVS:
                                16.

                                rs1479141534 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  2:216867260 (GRCh38)
                                  2:217731983 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:216867259:G:C
                                  Gene:
                                  IGFBP-AS1 (Varview), LOC105373876 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1477904524 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:216869044 (GRCh38)
                                    2:217733767 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:216869043:C:T
                                    Gene:
                                    IGFBP-AS1 (Varview), LINC01921 (Varview), LOC105373876 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1477297295 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      2:216869475 (GRCh38)
                                      2:217734198 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:216869474:T:G
                                      Gene:
                                      IGFBP-AS1 (Varview), LINC01921 (Varview), LOC105373876 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0./0 (GnomAD)
                                      G=0.000004/1 (TOPMED)
                                      ...more
                                      HGVS:
                                      19.

                                      rs1475452612 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        2:216869244 (GRCh38)
                                        2:217733967 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:216869243:A:C
                                        Gene:
                                        IGFBP-AS1 (Varview), LINC01921 (Varview), LOC105373876 (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.0027/5 (Korea1K)
                                        HGVS:
                                        20.

                                        rs1473334503 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          A>- [Show Flanks]
                                          Chromosome:
                                          2:216866963 (GRCh38)
                                          2:217731686 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:216866962:A:
                                          Gene:
                                          IGFBP-AS1 (Varview), LOC105373876 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0./0 (ALFA)
                                          HGVS:

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