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Links from Nucleotide

Items: 1 to 20 of 25

1.

rs1483857770 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    16:69708574 (GRCh38)
    16:69742477 (GRCh37)
    Canonical SPDI:
    NC_000016.10:69708573:T:C
    Gene:
    SNORD13H (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1459495657 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CTTA>- [Show Flanks]
      Chromosome:
      16:69708656 (GRCh38)
      16:69742559 (GRCh37)
      Canonical SPDI:
      NC_000016.10:69708654:ACTTA:A
      Gene:
      SNORD13H (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1441422033 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        16:69708630 (GRCh38)
        16:69742533 (GRCh37)
        Canonical SPDI:
        NC_000016.10:69708629:A:C,NC_000016.10:69708629:A:G
        Gene:
        SNORD13H (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        HGVS:
        4.

        rs1440422808 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          16:69708573 (GRCh38)
          16:69742476 (GRCh37)
          Canonical SPDI:
          NC_000016.10:69708572:G:T
          Gene:
          SNORD13H (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.002/9 (ALFA)
          T=0.002/9 (Estonian)
          HGVS:
          5.

          rs1424808142 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            16:69708664 (GRCh38)
            16:69742567 (GRCh37)
            Canonical SPDI:
            NC_000016.10:69708663:C:T
            Gene:
            SNORD13H (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1416792185 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:69708656 (GRCh38)
              16:69742559 (GRCh37)
              Canonical SPDI:
              NC_000016.10:69708655:C:T
              Gene:
              SNORD13H (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1400345500 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                16:69708635 (GRCh38)
                16:69742538 (GRCh37)
                Canonical SPDI:
                NC_000016.10:69708634:C:T
                Gene:
                SNORD13H (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000011/3 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1381219429 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C [Show Flanks]
                  Chromosome:
                  16:69708607 (GRCh38)
                  16:69742510 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:69708606:T:A,NC_000016.10:69708606:T:C
                  Gene:
                  SNORD13H (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=0.000008/2 (TOPMED)
                  C=0.000495/8 (TOMMO)
                  C=0.001027/3 (KOREAN)
                  C=0.001092/2 (Korea1K)
                  HGVS:
                  9.

                  rs1374614599 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:69708579 (GRCh38)
                    16:69742482 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:69708578:C:T
                    Gene:
                    SNORD13H (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000035/1 (TOMMO)
                    HGVS:
                    10.

                    rs1359068255 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      T>A
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      11.

                      rs1332974015 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        16:69708598 (GRCh38)
                        16:69742502 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:69708598:T:TT
                        Gene:
                        SNORD13H (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TT=0.000071/1 (ALFA)
                        T=0.000014/2 (GnomAD)
                        T=0.000019/5 (TOPMED)
                        HGVS:
                        12.

                        rs1294168073 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          16:69708633 (GRCh38)
                          16:69742536 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:69708632:C:G
                          Gene:
                          SNORD13H (Varview)
                          Functional Consequence:
                          non_coding_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:
                          13.

                          rs1289682001 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:69708582 (GRCh38)
                            16:69742485 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:69708581:G:A
                            Gene:
                            SNORD13H (Varview)
                            Functional Consequence:
                            non_coding_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:
                            14.

                            rs1279516431 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              16:69708575 (GRCh38)
                              16:69742478 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:69708574:C:T
                              Gene:
                              SNORD13H (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1258828345 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                16:69708581 (GRCh38)
                                16:69742484 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:69708580:G:A
                                Gene:
                                SNORD13H (Varview)
                                Functional Consequence:
                                non_coding_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:
                                16.

                                rs1223461465 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  A>T
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:
                                  17.

                                  rs1164479352 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    16:69708660 (GRCh38)
                                    16:69742563 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:69708659:G:A
                                    Gene:
                                    SNORD13H (Varview)
                                    Functional Consequence:
                                    non_coding_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:
                                    18.

                                    rs1039141532 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      16:69708623 (GRCh38)
                                      16:69742526 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:69708622:C:A,NC_000016.10:69708622:C:T
                                      Gene:
                                      SNORD13H (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs988640222 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        16:69708572 (GRCh38)
                                        16:69742475 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:69708571:T:C
                                        Gene:
                                        SNORD13H (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs971025335 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          16:69708598 (GRCh38)
                                          16:69742501 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:69708597:A:G,NC_000016.10:69708597:A:T
                                          Gene:
                                          SNORD13H (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000014/2 (GnomAD)
                                          G=0.000045/12 (TOPMED)
                                          HGVS:

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