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Items: 1 to 20 of 827

1.

rs1489161921 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    1:120942763 (GRCh38)
    1:-1 (GRCh37)
    Canonical SPDI:
    NC_000001.11:120942762:G:T
    Gene:
    LINC00623 (Varview), RNVU1-4 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000011/3 (TOPMED)
    T=0.000156/1 (1000Genomes)
    HGVS:
    2.

    rs1488959709 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      1:120941159 (GRCh38)
      1:-1 (GRCh37)
      Canonical SPDI:
      NC_000001.11:120941158:C:G
      Gene:
      LINC00623 (Varview), RNVU1-4 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1488152825 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,C [Show Flanks]
        Chromosome:
        1:120942593 (GRCh38)
        1:-1 (GRCh37)
        Canonical SPDI:
        NC_000001.11:120942592:T:A,NC_000001.11:120942592:T:C
        Gene:
        LINC00623 (Varview), RNVU1-4 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1487953345 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          1:120940958 (GRCh38)
          1:-1 (GRCh37)
          Canonical SPDI:
          NC_000001.11:120940957:A:C
          Gene:
          LINC00623 (Varview), RNVU1-4 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000071/1 (ALFA)
          C=0.000015/2 (GnomAD)
          C=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1487788455 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:120942868 (GRCh38)
            1:-1 (GRCh37)
            Canonical SPDI:
            NC_000001.11:120942867:C:T
            Gene:
            LINC00623 (Varview), RNVU1-4 (Varview)
            Functional Consequence:
            intron_variant,downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1487676409 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              1:120942400 (GRCh38)
              1:-1 (GRCh37)
              Canonical SPDI:
              NC_000001.11:120942399:C:A,NC_000001.11:120942399:C:T
              Gene:
              LINC00623 (Varview), RNVU1-4 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1487223814 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                1:120942810 (GRCh38)
                1:-1 (GRCh37)
                Canonical SPDI:
                NC_000001.11:120942809:T:A,NC_000001.11:120942809:T:C
                Gene:
                LINC00623 (Varview), RNVU1-4 (Varview)
                Functional Consequence:
                intron_variant,downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1486815468 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:120942647 (GRCh38)
                  1:-1 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:120942646:C:T
                  Gene:
                  LINC00623 (Varview), RNVU1-4 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.00003/8 (TOPMED)
                  HGVS:
                  9.

                  rs1486178465 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:120942180 (GRCh38)
                    1:-1 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:120942179:G:A
                    Gene:
                    LINC00623 (Varview), RNVU1-4 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0./0 (GnomAD)
                    HGVS:
                    10.

                    rs1486148315 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      1:120941547 (GRCh38)
                      1:-1 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:120941546:C:G
                      Gene:
                      LINC00623 (Varview), RNVU1-4 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1485832711 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:120942447 (GRCh38)
                        1:-1 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:120942446:G:A
                        Gene:
                        LINC00623 (Varview), RNVU1-4 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1485688238 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:120941955 (GRCh38)
                          1:-1 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:120941954:T:C
                          Gene:
                          LINC00623 (Varview), RNVU1-4 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1484709260 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C,T [Show Flanks]
                            Chromosome:
                            1:120941681 (GRCh38)
                            1:-1 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:120941680:G:C,NC_000001.11:120941680:G:T
                            Gene:
                            LINC00623 (Varview), RNVU1-4 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.00484/68 (ALFA)
                            T=0.000546/1 (Korea1K)
                            C=0.001093/7 (1000Genomes)
                            C=0.00357/945 (TOPMED)
                            C=0.004088/563 (GnomAD)
                            HGVS:
                            14.

                            rs1484678117 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              1:120941096 (GRCh38)
                              1:-1 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:120941095:C:G,NC_000001.11:120941095:C:T
                              Gene:
                              LINC00623 (Varview), RNVU1-4 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1484430734 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->CTCA [Show Flanks]
                                Chromosome:
                                1:120943180 (GRCh38)
                                1:-1 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:120943180:CTCA:CTCACTCA
                                Gene:
                                LINC00623 (Varview), RNVU1-4 (Varview)
                                Functional Consequence:
                                intron_variant,downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CTCACTCA=0./0 (ALFA)
                                CTCA=0.000015/2 (GnomAD)
                                CTCA=0.000019/5 (TOPMED)
                                HGVS:
                                16.

                                rs1484191513 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:120941038 (GRCh38)
                                  1:-1 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:120941037:C:T
                                  Gene:
                                  LINC00623 (Varview), RNVU1-4 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000022/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1483712741 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    1:120941409 (GRCh38)
                                    1:-1 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:120941408:G:A,NC_000001.11:120941408:G:T
                                    Gene:
                                    LINC00623 (Varview), RNVU1-4 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1483679856 has merged into rs58335480 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:120940853 (GRCh38)
                                      1:-1 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:120940852:T:C
                                      Gene:
                                      LINC00623 (Varview), RNVU1-4 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.239083/2836 (ALFA)
                                      C=0.16156/4556 (TOMMO)
                                      C=0.240006/29057 (GnomAD)
                                      C=0.246877/1581 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1482702912 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:120940611 (GRCh38)
                                        1:-1 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:120940610:A:G
                                        Gene:
                                        LINC00623 (Varview), RNVU1-4 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000024/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1481748698 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          1:120940907 (GRCh38)
                                          1:-1 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:120940906:C:A
                                          Gene:
                                          LINC00623 (Varview), RNVU1-4 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:

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