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Links from Nucleotide

Items: 1 to 20 of 32

1.

rs1481360056 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    15:25089947 (GRCh38)
    15:25335094 (GRCh37)
    Canonical SPDI:
    NC_000015.10:25089946:A:G
    Gene:
    SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1468837239 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      15:25090014 (GRCh38)
      15:25335161 (GRCh37)
      Canonical SPDI:
      NC_000015.10:25090013:C:G
      Gene:
      SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1370914752 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        15:25089929 (GRCh38)
        15:25335076 (GRCh37)
        Canonical SPDI:
        NC_000015.10:25089928:A:T
        Gene:
        SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000026/7 (TOPMED)
        HGVS:
        4.

        rs1339607074 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          15:25089942 (GRCh38)
          15:25335089 (GRCh37)
          Canonical SPDI:
          NC_000015.10:25089941:T:C
          Gene:
          SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000013/3 (GnomAD_exomes)
          C=0.000015/4 (TOPMED)
          C=0.000119/2 (TOMMO)
          HGVS:
          5.

          rs1282938916 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            15:25089937 (GRCh38)
            15:25335084 (GRCh37)
            Canonical SPDI:
            NC_000015.10:25089936:T:C
            Gene:
            SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
            Functional Consequence:
            2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000009/2 (GnomAD_exomes)
            HGVS:
            6.

            rs1204898380 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              15:25089932 (GRCh38)
              15:25335079 (GRCh37)
              Canonical SPDI:
              NC_000015.10:25089931:A:G
              Gene:
              SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1203425539 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                15:25089943 (GRCh38)
                15:25335090 (GRCh37)
                Canonical SPDI:
                NC_000015.10:25089942:A:G
                Gene:
                SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
                Functional Consequence:
                intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1188963113 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  15:25089951 (GRCh38)
                  15:25335098 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:25089950:T:G
                  Gene:
                  SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000009/2 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1170085789 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CT>- [Show Flanks]
                    Chromosome:
                    15:25089984 (GRCh38)
                    15:25335131 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:25089981:CTCT:CT
                    Gene:
                    SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    -=0.000017/4 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs936551809 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      15:25089955 (GRCh38)
                      15:25335102 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:25089954:T:C
                      Gene:
                      SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000071/1 (ALFA)
                      C=0.000043/6 (GnomAD)
                      C=0.000049/13 (TOPMED)
                      HGVS:
                      11.

                      rs779742462 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        15:25089961 (GRCh38)
                        15:25335108 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:25089960:G:A,NC_000015.10:25089960:G:C
                        Gene:
                        SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000009/1 (ExAC)
                        HGVS:
                        12.

                        rs778246534 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          15:25089982 (GRCh38)
                          15:25335129 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:25089981:C:G
                          Gene:
                          SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          G=0.000004/1 (TOPMED)
                          G=0.000009/1 (ExAC)
                          HGVS:
                          13.

                          rs776939636 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            15:25090003 (GRCh38)
                            15:25335150 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:25090002:G:A,NC_000015.10:25090002:G:T
                            Gene:
                            SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0./0 (ALSPAC)
                            A=0.000021/3 (GnomAD)
                            A=0.000035/1 (TOMMO)
                            A=0.000038/10 (TOPMED)
                            A=0.000062/7 (ExAC)
                            A=0.00027/1 (TWINSUK)
                            A=0.125/1 (KOREAN)
                            HGVS:
                            14.

                            rs775867833 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              15:25089996 (GRCh38)
                              15:25335143 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:25089995:C:G,NC_000015.10:25089995:C:T
                              Gene:
                              SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000087/2 (ALFA)
                              T=0.000009/1 (ExAC)
                              G=0.000021/3 (GnomAD)
                              G=0.000049/13 (TOPMED)
                              HGVS:
                              15.

                              rs774242696 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                15:25090002 (GRCh38)
                                15:25335149 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:25090001:C:G,NC_000015.10:25090001:C:T
                                Gene:
                                SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000047/11 (GnomAD_exomes)
                                T=0.000071/8 (ExAC)
                                C=0.5/1 (SGDP_PRJ)
                                HGVS:
                                16.

                                rs773942942 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  15:25089925 (GRCh38)
                                  15:25335072 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:25089924:A:T
                                  Gene:
                                  SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0./0 (TWINSUK)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000259/1 (ALSPAC)
                                  HGVS:
                                  17.

                                  rs767480055 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    15:25090006 (GRCh38)
                                    15:25335153 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:25090005:C:T
                                    Gene:
                                    SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000069/16 (GnomAD_exomes)
                                    T=0.000089/10 (ExAC)
                                    HGVS:
                                    18.

                                    rs764021727 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      15:25089931 (GRCh38)
                                      15:25335078 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:25089930:G:A,NC_000015.10:25089930:G:C
                                      Gene:
                                      SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs763151329 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        15:25089928 (GRCh38)
                                        15:25335075 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:25089927:G:A
                                        Gene:
                                        SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000102/2 (ALFA)
                                        A=0./0 (Korea1K)
                                        A=0.000009/1 (ExAC)
                                        A=0.000011/3 (TOPMED)
                                        A=0.000013/3 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs755902244 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          15:25089956 (GRCh38)
                                          15:25335103 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:25089955:G:A
                                          Gene:
                                          SNORD116-22 (Varview), SNORD116-23 (Varview), SNHG14 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          A=0.000009/1 (ExAC)
                                          A=0.000009/2 (GnomAD_exomes)
                                          HGVS:

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