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Items: 1 to 20 of 6748

1.

rs1491540799 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    7:7278564 (GRCh38)
    7:7318195 (GRCh37)
    Canonical SPDI:
    NC_000007.14:7278563:AT:
    Gene:
    LINC03016 (Varview), LOC107986764 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491446994 has merged into rs1429373050 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      T>-,TT [Show Flanks]
      Chromosome:
      7:7272517 (GRCh38)
      7:7312148 (GRCh37)
      Canonical SPDI:
      NC_000007.14:7272516:TTTTTTTT:TTTTTTT,NC_000007.14:7272516:TTTTTTTT:TTTTTTTTT
      Gene:
      LINC03016 (Varview), LOC107986764 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTT=0./0 (ALFA)
      -=0.000045/12 (TOPMED)
      T=0.00006/1 (TOMMO)
      ...more
      HGVS:
      3.

      rs1491423945 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AA>- [Show Flanks]
        Chromosome:
        7:7254683 (GRCh38)
        7:7294314 (GRCh37)
        Canonical SPDI:
        NC_000007.14:7254678:AAAAAA:AAAA
        Gene:
        LINC03016 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAA=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000007/1 (GnomAD)
        ...more
        HGVS:
        4.

        rs1491375649 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->TTTAAAAAG [Show Flanks]
          Chromosome:
          7:7254679 (GRCh38)
          7:7294311 (GRCh37)
          Canonical SPDI:
          NC_000007.14:7254679:AAAAAGTTTAAAAAG:AAAAAGTTTAAAAAGTTTAAAAAG
          Gene:
          LINC03016 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          AAAAAGTTTAAAAAGTTTAAAAAG=0./0 (ALFA)
          AAAAAGTTT=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1491236921 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GTTT [Show Flanks]
            Chromosome:
            7:7278564 (GRCh38)
            7:7318196 (GRCh37)
            Canonical SPDI:
            NC_000007.14:7278564:T:TGTTT
            Gene:
            LINC03016 (Varview), LOC107986764 (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            TGTTT=0./0 (ALFA)
            TGTT=0.000123/13 (GnomAD)
            HGVS:
            6.

            rs1491220437 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              7:7272516 (GRCh38)
              7:7312147 (GRCh37)
              Canonical SPDI:
              NC_000007.14:7272515:AT:
              Gene:
              LINC03016 (Varview), LOC107986764 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.000169/2 (ALFA)
              -=0.000156/1 (1000Genomes)
              -=0.000214/30 (GnomAD)
              -=0.000253/67 (TOPMED)
              ...more
              HGVS:
              7.

              rs1490906434 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                7:7273309 (GRCh38)
                7:7312940 (GRCh37)
                Canonical SPDI:
                NC_000007.14:7273308:G:T
                Gene:
                LINC03016 (Varview), LOC107986764 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490731242 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  7:7253486 (GRCh38)
                  7:7293117 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:7253485:G:T
                  Gene:
                  LINC03016 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.000021/3 (GnomAD)
                  T=0.003333/2 (NorthernSweden)
                  HGVS:
                  9.

                  rs1490572166 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    7:7277564 (GRCh38)
                    7:7317195 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:7277563:C:T
                    Gene:
                    LINC03016 (Varview), LOC107986764 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    ...more
                    HGVS:
                    10.

                    rs1490386928 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      7:7265468 (GRCh38)
                      7:7305099 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:7265467:A:G
                      Gene:
                      LINC03016 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1490370623 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CT>- [Show Flanks]
                        Chromosome:
                        7:7261190 (GRCh38)
                        7:7300821 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:7261186:TCTCT:TCT
                        Gene:
                        LINC03016 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TCT=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        ...more
                        HGVS:
                        12.

                        rs1490355681 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          7:7262091 (GRCh38)
                          7:7301722 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:7262090:A:T
                          Gene:
                          LINC03016 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000023/6 (TOPMED)
                          ...more
                          HGVS:
                          13.

                          rs1490243712 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            7:7255093 (GRCh38)
                            7:7294724 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:7255092:T:C
                            Gene:
                            LINC03016 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490204894 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              7:7262582 (GRCh38)
                              7:7302213 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:7262581:A:G
                              Gene:
                              LINC03016 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1489976962 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                7:7274945 (GRCh38)
                                7:7314576 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:7274944:G:A
                                Gene:
                                LINC03016 (Varview), LOC107986764 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                ...more
                                HGVS:
                                16.

                                rs1489924469 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  7:7274162 (GRCh38)
                                  7:7313793 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:7274161:C:T
                                  Gene:
                                  LINC03016 (Varview), LOC107986764 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  ...more
                                  HGVS:
                                  17.

                                  rs1489822216 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    7:7269165 (GRCh38)
                                    7:7308796 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:7269164:T:G
                                    Gene:
                                    LINC03016 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1489796074 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      7:7268207 (GRCh38)
                                      7:7307838 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:7268206:T:C,NC_000007.14:7268206:T:G
                                      Gene:
                                      LINC03016 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489733585 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TCT>- [Show Flanks]
                                        Chromosome:
                                        7:7274718 (GRCh38)
                                        7:7314349 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:7274711:TCTTCTTCT:TCTTCT
                                        Gene:
                                        LINC03016 (Varview), LOC107986764 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TCTTCT=0.000066/1 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000223/1 (Estonian)
                                        ...more
                                        HGVS:
                                        20.

                                        rs1489716784 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          7:7276615 (GRCh38)
                                          7:7316246 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:7276614:C:G,NC_000007.14:7276614:C:T
                                          Gene:
                                          LINC03016 (Varview), LOC107986764 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          G=0.000014/2 (GnomAD)
                                          ...more
                                          HGVS:

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