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Links from Gene

Items: 1 to 20 of 662

1.

rs1490687380 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    17:76559346 (GRCh38)
    17:74555428 (GRCh37)
    Canonical SPDI:
    NC_000017.11:76559345:A:G
    Gene:
    SNORD1B (Varview), SNORD1C (Varview), SNHG16 (Varview)
    Functional Consequence:
    downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1489186898 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:76558266 (GRCh38)
      17:74554348 (GRCh37)
      Canonical SPDI:
      NC_000017.11:76558265:G:A
      Gene:
      SNORD1C (Varview), SNHG16 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      HGVS:
      3.

      rs1488654083 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        17:76558054 (GRCh38)
        17:74554136 (GRCh37)
        Canonical SPDI:
        NC_000017.11:76558053:A:G
        Gene:
        SNORD1C (Varview), SNHG16 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1488032284 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          17:76557901 (GRCh38)
          17:74553983 (GRCh37)
          Canonical SPDI:
          NC_000017.11:76557900:C:A
          Gene:
          SNORD1C (Varview), SNHG16 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1487048564 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            17:76557662 (GRCh38)
            17:74553744 (GRCh37)
            Canonical SPDI:
            NC_000017.11:76557661:C:A
            Gene:
            SNORD1C (Varview), SNHG16 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1486868383 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              17:76557641 (GRCh38)
              17:74553723 (GRCh37)
              Canonical SPDI:
              NC_000017.11:76557640:C:A
              Gene:
              SNORD1C (Varview), SNHG16 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000029/4 (GnomAD)
              HGVS:
              7.

              rs1486831002 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:76558727 (GRCh38)
                17:74554809 (GRCh37)
                Canonical SPDI:
                NC_000017.11:76558726:A:G
                Gene:
                SNORD1C (Varview), SNHG16 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1485673616 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  17:76557189 (GRCh38)
                  17:74553271 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:76557188:G:T
                  Gene:
                  SNORD1C (Varview), SNHG16 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1484267563 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->G [Show Flanks]
                    Chromosome:
                    17:76557301 (GRCh38)
                    17:74553384 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:76557301:G:GG
                    Gene:
                    SNORD1C (Varview), SNHG16 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GG=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1483565514 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      17:76556801 (GRCh38)
                      17:74552883 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:76556800:G:C
                      Gene:
                      SNORD1C (Varview), SNHG16 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1482196191 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:76558118 (GRCh38)
                        17:74554200 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:76558117:C:T
                        Gene:
                        SNORD1C (Varview), SNHG16 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1481957920 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GA>- [Show Flanks]
                          Chromosome:
                          17:76557410 (GRCh38)
                          17:74553492 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:76557408:AGA:A
                          Gene:
                          SNORD1C (Varview), SNHG16 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          HGVS:
                          13.

                          rs1480718860 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:76558191 (GRCh38)
                            17:74554273 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:76558190:T:C
                            Gene:
                            SNORD1C (Varview), SNHG16 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1480247243 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              17:76557454 (GRCh38)
                              17:74553536 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:76557453:C:G
                              Gene:
                              SNORD1C (Varview), SNHG16 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000008/2 (TOPMED)
                              C=0.5/1 (SGDP_PRJ)
                              HGVS:
                              15.

                              rs1478009008 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                17:76556808 (GRCh38)
                                17:74552890 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:76556807:A:G
                                Gene:
                                SNORD1C (Varview), SNHG16 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1477598041 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:76558037 (GRCh38)
                                  17:74554119 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:76558036:G:A
                                  Gene:
                                  SNORD1C (Varview), SNHG16 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1477238393 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    17:76557878 (GRCh38)
                                    17:74553960 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:76557877:A:G
                                    Gene:
                                    SNORD1C (Varview), SNHG16 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000014/2 (GnomAD)
                                    G=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1472831940 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      17:76557808 (GRCh38)
                                      17:74553890 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:76557807:T:G
                                      Gene:
                                      SNORD1C (Varview), SNHG16 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1471493447 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        17:76557687 (GRCh38)
                                        17:74553769 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:76557686:T:C
                                        Gene:
                                        SNORD1C (Varview), SNHG16 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1467823209 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          17:76559005 (GRCh38)
                                          17:74555087 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:76559004:T:A
                                          Gene:
                                          SNORD1C (Varview), SNHG16 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000006/1 (GnomAD_exomes)
                                          HGVS:

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