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Items: 1 to 20 of 1322

1.

rs1490985363 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:235069394 (GRCh38)
    1:-1 (GRCh37)
    Canonical SPDI:
    NC_000001.11:235069393:C:T
    Gene:
    LINC01348 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    2.

    rs1490168800 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      1:235068932 (GRCh38)
      1:-1 (GRCh37)
      Canonical SPDI:
      NC_000001.11:235068931:G:C
      Gene:
      LINC01348 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490031912 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:235069894 (GRCh38)
        1:-1 (GRCh37)
        Canonical SPDI:
        NC_000001.11:235069893:C:T
        Gene:
        LINC01348 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000029/4 (GnomAD)
        T=0.00003/8 (TOPMED)
        HGVS:
        4.

        rs1489981383 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          T>- [Show Flanks]
          Chromosome:
          1:235067659 (GRCh38)
          1:-1 (GRCh37)
          Canonical SPDI:
          NC_000001.11:235067658:T:
          Gene:
          LINC01348 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          -=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1489580723 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            1:235071286 (GRCh38)
            1:-1 (GRCh37)
            Canonical SPDI:
            NC_000001.11:235071285:T:G
            Gene:
            LINC01348 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000015/4 (TOPMED)
            G=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1488587039 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:235068223 (GRCh38)
              1:-1 (GRCh37)
              Canonical SPDI:
              NC_000001.11:235068222:C:T
              Gene:
              LINC01348 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000015/4 (TOPMED)
              T=0.000142/4 (TOMMO)
              HGVS:
              7.

              rs1488373178 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:235067112 (GRCh38)
                1:-1 (GRCh37)
                Canonical SPDI:
                NC_000001.11:235067111:G:A
                Gene:
                LINC01348 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1488343469 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  1:235067083 (GRCh38)
                  1:-1 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:235067083:TT:TTT
                  Gene:
                  LINC01348 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  TTT=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1488261848 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:235067732 (GRCh38)
                    1:-1 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:235067731:G:A
                    Gene:
                    LINC01348 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000011/3 (TOPMED)
                    A=0.000035/1 (TOMMO)
                    HGVS:
                    10.

                    rs1486456780 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      1:235066272 (GRCh38)
                      1:-1 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:235066271:C:A,NC_000001.11:235066271:C:T
                      Gene:
                      LINC01348 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.00031/2 (1000Genomes)
                      HGVS:
                      11.

                      rs1486377727 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:235066177 (GRCh38)
                        1:-1 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:235066176:A:G
                        Gene:
                        LINC01348 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1486127314 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          1:235065800 (GRCh38)
                          1:-1 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:235065799:A:T
                          Gene:
                          LINC01348 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000015/4 (TOPMED)
                          T=0.000029/4 (GnomAD)
                          HGVS:
                          13.

                          rs1485887451 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,T [Show Flanks]
                            Chromosome:
                            1:235069004 (GRCh38)
                            1:-1 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:235069003:A:C,NC_000001.11:235069003:A:T
                            Gene:
                            LINC01348 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1485665715 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:235069508 (GRCh38)
                              1:-1 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:235069507:T:C
                              Gene:
                              LINC01348 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1484490591 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:235065427 (GRCh38)
                                1:-1 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:235065426:C:T
                                Gene:
                                LINC01348 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000029/4 (GnomAD)
                                T=0.000087/23 (TOPMED)
                                T=0.000531/15 (TOMMO)
                                T=0.000546/1 (Korea1K)
                                HGVS:
                                16.

                                rs1484420831 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  1:235065300 (GRCh38)
                                  1:-1 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:235065299:A:C,NC_000001.11:235065299:A:G
                                  Gene:
                                  LINC01348 (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000015/4 (TOPMED)
                                  C=0.000021/3 (GnomAD)
                                  G=0.000156/1 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1483981364 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:235069122 (GRCh38)
                                    1:-1 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:235069121:C:T
                                    Gene:
                                    LINC01348 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1483929186 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      1:235068292 (GRCh38)
                                      1:-1 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:235068291:T:C,NC_000001.11:235068291:T:G
                                      Gene:
                                      LINC01348 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      C=0.000043/6 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1483768059 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:235071595 (GRCh38)
                                        1:-1 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:235071594:G:A
                                        Gene:
                                        LINC01348 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1483445033 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:235071168 (GRCh38)
                                          1:-1 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:235071167:T:C
                                          Gene:
                                          LINC01348 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000029/4 (GnomAD)
                                          C=0.000034/9 (TOPMED)
                                          HGVS:

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