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Links from Gene

Items: 1 to 20 of 984

1.

rs1490554659 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    1:173867160 (GRCh38)
    1:173836299 (GRCh37)
    Canonical SPDI:
    NC_000001.11:173867160:TT:TTT
    Gene:
    SNORD79 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTT=0.000084/1 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490138728 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:173865762 (GRCh38)
      1:173834900 (GRCh37)
      Canonical SPDI:
      NC_000001.11:173865761:A:G
      Gene:
      SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview), SNORA103 (Varview)
      Functional Consequence:
      500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490123246 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        1:173866504 (GRCh38)
        1:173835642 (GRCh37)
        Canonical SPDI:
        NC_000001.11:173866503:A:T
        Gene:
        SNORD79 (Varview), SNORD80 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
        Functional Consequence:
        intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0./0 (GnomAD)
        T=0.000019/5 (TOPMED)
        HGVS:
        4.

        rs1489785597 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:173867137 (GRCh38)
          1:173836275 (GRCh37)
          Canonical SPDI:
          NC_000001.11:173867136:A:G
          Gene:
          SNORD79 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (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:
          5.

          rs1489141620 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:173867896 (GRCh38)
            1:173837034 (GRCh37)
            Canonical SPDI:
            NC_000001.11:173867895:T:C
            Gene:
            SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORA103 (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:
            6.

            rs1485460280 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:173867011 (GRCh38)
              1:173836149 (GRCh37)
              Canonical SPDI:
              NC_000001.11:173867010:A:G
              Gene:
              SNORD79 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000014/2 (GnomAD)
              G=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1483177767 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTT>- [Show Flanks]
                Chromosome:
                1:173866737 (GRCh38)
                1:173835875 (GRCh37)
                Canonical SPDI:
                NC_000001.11:173866734:TTTTT:TT
                Gene:
                SNORD79 (Varview), SNORD80 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
                Functional Consequence:
                2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                TT=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1481177962 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  1:173866048 (GRCh38)
                  1:173835186 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:173866047:T:C,NC_000001.11:173866047:T:G
                  Gene:
                  SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1480696151 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    1:173866489 (GRCh38)
                    1:173835627 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:173866488:T:G
                    Gene:
                    SNORD79 (Varview), SNORD80 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1480046349 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      T>- [Show Flanks]
                      Chromosome:
                      1:173865846 (GRCh38)
                      1:173834984 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:173865845:TT:T
                      Gene:
                      SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TT=0.000142/2 (ALFA)
                      -=0.000007/1 (GnomAD)
                      -=0.000068/18 (TOPMED)
                      HGVS:
                      11.

                      rs1479110721 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        1:173867636 (GRCh38)
                        1:173836774 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:173867635:G:C
                        Gene:
                        SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1478010378 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CTC>- [Show Flanks]
                          Chromosome:
                          1:173867836 (GRCh38)
                          1:173836974 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:173867833:TCCTC:TC
                          Gene:
                          SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORA103 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TC=0.000071/1 (ALFA)
                          -=0.000015/4 (TOPMED)
                          -=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1476107333 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GA>- [Show Flanks]
                            Chromosome:
                            1:173866444 (GRCh38)
                            1:173835582 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:173866439:GAGAGA:GAGA
                            Gene:
                            SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            GAGA=0.000071/1 (ALFA)
                            -=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1475907260 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:173865695 (GRCh38)
                              1:173834833 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:173865694:T:C
                              Gene:
                              SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1475844035 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:173866068 (GRCh38)
                                1:173835206 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:173866067:G:A
                                Gene:
                                SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0./0 (GnomAD)
                                HGVS:
                                16.

                                rs1474000001 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  1:173865639 (GRCh38)
                                  1:173834777 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:173865638:T:G
                                  Gene:
                                  SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1473908879 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:173867581 (GRCh38)
                                    1:173836719 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:173867580:A:G
                                    Gene:
                                    SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1473142478 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      1:173866035 (GRCh38)
                                      1:173835173 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:173866034:T:G
                                      Gene:
                                      SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1473111301 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        1:173865656 (GRCh38)
                                        1:173834794 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:173865655:C:G
                                        Gene:
                                        SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1471737436 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:173867868 (GRCh38)
                                          1:173837006 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:173867867:T:C
                                          Gene:
                                          SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORA103 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_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:

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