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Links from Nucleotide

Items: 1 to 20 of 1000

1.

rs1490945086 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    17:34256760 (GRCh38)
    17:32583779 (GRCh37)
    Canonical SPDI:
    NC_000017.11:34256759:C:A
    Gene:
    CCL2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490303113 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      17:34255415 (GRCh38)
      17:32582434 (GRCh37)
      Canonical SPDI:
      NC_000017.11:34255414:C:T
      Gene:
      CCL2 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490153922 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:34250281 (GRCh38)
        17:32577300 (GRCh37)
        Canonical SPDI:
        NC_000017.11:34250280:G:A
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000014/2 (GnomAD)
        A=0.002053/6 (KOREAN)
        HGVS:
        4.

        rs1489813597 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:34256764 (GRCh38)
          17:32583783 (GRCh37)
          Canonical SPDI:
          NC_000017.11:34256763:G:A
          Gene:
          CCL2 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1489747992 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            17:34256835 (GRCh38)
            17:32583854 (GRCh37)
            Canonical SPDI:
            NC_000017.11:34256834:C:G
            Gene:
            CCL2 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1488904989 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:34252048 (GRCh38)
              17:32579067 (GRCh37)
              Canonical SPDI:
              NC_000017.11:34252047:G:A
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1488760615 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:34254774 (GRCh38)
                17:32581793 (GRCh37)
                Canonical SPDI:
                NC_000017.11:34254773:A:G
                Gene:
                CCL2 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1488401604 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  17:34252940 (GRCh38)
                  17:32579959 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:34252939:G:A,NC_000017.11:34252939:G:T
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1487908346 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:34252589 (GRCh38)
                    17:32579608 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:34252588:C:T
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.00003/8 (TOPMED)
                    T=0.000035/1 (TOMMO)
                    T=0.000036/5 (GnomAD)
                    HGVS:
                    10.

                    rs1487233073 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:34254123 (GRCh38)
                      17:32581142 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:34254122:G:A
                      Gene:
                      CCL2 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1486575008 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        17:34253126 (GRCh38)
                        17:32580145 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:34253125:T:C
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1486035507 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:34254882 (GRCh38)
                          17:32581901 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:34254881:G:A
                          Gene:
                          CCL2 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          HGVS:
                          13.

                          rs1485834481 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            G>- [Show Flanks]
                            Chromosome:
                            17:34253224 (GRCh38)
                            17:32580243 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:34253223:GG:G
                            Validated:
                            by frequency,by alfa
                            MAF:
                            GG=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1485702707 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              T>- [Show Flanks]
                              Chromosome:
                              17:34252246 (GRCh38)
                              17:32579265 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:34252245:TTTTTTT:TTTTTT
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TTTTTT=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1485417875 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                17:34250806 (GRCh38)
                                17:32577825 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:34250805:T:C
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1485171617 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CTAT>- [Show Flanks]
                                  Chromosome:
                                  17:34252382 (GRCh38)
                                  17:32579401 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:34252378:TATCTAT:TAT
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  TAT=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1485097444 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    17:34258158 (GRCh38)
                                    17:32585177 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:34258157:T:C
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1484720729 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:34251795 (GRCh38)
                                      17:32578814 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:34251794:C:T
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1484402256 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        17:34255510 (GRCh38)
                                        17:32582529 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:34255509:G:C
                                        Gene:
                                        CCL2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1484060341 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          17:34250930 (GRCh38)
                                          17:32577949 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:34250929:T:G
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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