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Links from Nucleotide

Items: 1 to 20 of 1000

1.

rs1488653929 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    10:111081414 (GRCh38)
    10:112841172 (GRCh37)
    Canonical SPDI:
    NC_000010.11:111081413:A:G
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1488562251 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      10:111078851 (GRCh38)
      10:112838609 (GRCh37)
      Canonical SPDI:
      NC_000010.11:111078850:C:G
      Gene:
      ADRA2A (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000022/3 (GnomAD)
      HGVS:
      3.

      rs1488127221 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        10:111080764 (GRCh38)
        10:112840522 (GRCh37)
        Canonical SPDI:
        NC_000010.11:111080763:A:G
        Gene:
        ADRA2A (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1487051244 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          10:111077530 (GRCh38)
          10:112837288 (GRCh37)
          Canonical SPDI:
          NC_000010.11:111077529:C:G
          Gene:
          ADRA2A (Varview)
          Functional Consequence:
          5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          G=0.000312/2 (1000Genomes)
          HGVS:
          5.

          rs1486909694 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            10:111075127 (GRCh38)
            10:112834885 (GRCh37)
            Canonical SPDI:
            NC_000010.11:111075126:G:A
            Gene:
            ADRA2A (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1486767130 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              10:111077981 (GRCh38)
              10:112837739 (GRCh37)
              Canonical SPDI:
              NC_000010.11:111077980:G:T
              Gene:
              ADRA2A (Varview)
              Functional Consequence:
              5_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000052/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1486738151 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                10:111081283 (GRCh38)
                10:112841041 (GRCh37)
                Canonical SPDI:
                NC_000010.11:111081282:C:T
                Gene:
                ADRA2A (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1486653124 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  10:111078608 (GRCh38)
                  10:112838366 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:111078607:G:A
                  Gene:
                  ADRA2A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1486497175 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    10:111074056 (GRCh38)
                    10:112833814 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:111074055:C:T
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1486419448 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:111073718 (GRCh38)
                      10:112833476 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:111073717:T:C
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1486290643 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        10:111076490 (GRCh38)
                        10:112836248 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:111076489:T:G
                        Gene:
                        ADRA2A (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1485931096 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          10:111075718 (GRCh38)
                          10:112835476 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:111075717:A:G
                          Gene:
                          ADRA2A (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1485905506 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            10:111076986 (GRCh38)
                            10:112836744 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:111076985:C:G,NC_000010.11:111076985:C:T
                            Gene:
                            ADRA2A (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1485900386 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              10:111079654 (GRCh38)
                              10:112839412 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:111079653:C:T
                              Gene:
                              ADRA2A (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1485647641 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                10:111072446 (GRCh38)
                                10:112832204 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:111072445:A:G
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1485343413 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  10:111077027 (GRCh38)
                                  10:112836785 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:111077026:C:A
                                  Gene:
                                  ADRA2A (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1485132171 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    10:111078212 (GRCh38)
                                    10:112837970 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:111078211:C:G,NC_000010.11:111078211:C:T
                                    Gene:
                                    ADRA2A (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    G=0.000008/2 (GnomAD_exomes)
                                    T=0.00005/7 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485020837 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      10:111079052 (GRCh38)
                                      10:112838810 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:111079051:GGGGG:GGGG
                                      Gene:
                                      ADRA2A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,frameshift_variant
                                      HGVS:
                                      19.

                                      rs1484954008 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        10:111076101 (GRCh38)
                                        10:112835859 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:111076100:C:A,NC_000010.11:111076100:C:T
                                        Gene:
                                        ADRA2A (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1484927712 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          10:111077786 (GRCh38)
                                          10:112837544 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:111077785:C:T
                                          Gene:
                                          ADRA2A (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000224/1 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000223/1 (Estonian)
                                          HGVS:

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