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Links from Nucleotide

Items: 1 to 20 of 307

1.

rs1485612830 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    5:76606949 (GRCh38)
    5:75902774 (GRCh37)
    Canonical SPDI:
    NC_000005.10:76606948:T:C
    Gene:
    IQGAP2 (Varview), LOC101929109 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1478792503 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      5:76607623 (GRCh38)
      5:75903448 (GRCh37)
      Canonical SPDI:
      NC_000005.10:76607622:T:C
      Gene:
      IQGAP2 (Varview), LOC101929109 (Varview)
      Functional Consequence:
      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000014/2 (GnomAD)
      C=0.00006/16 (TOPMED)
      HGVS:
      3.

      rs1475675837 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        5:76606669 (GRCh38)
        5:75902494 (GRCh37)
        Canonical SPDI:
        NC_000005.10:76606668:C:T
        Gene:
        IQGAP2 (Varview), LOC101929109 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1475199458 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          5:76607048 (GRCh38)
          5:75902873 (GRCh37)
          Canonical SPDI:
          NC_000005.10:76607047:C:T
          Gene:
          IQGAP2 (Varview), LOC101929109 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1474168739 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            5:76608878 (GRCh38)
            5:75904703 (GRCh37)
            Canonical SPDI:
            NC_000005.10:76608877:T:G
            Gene:
            IQGAP2 (Varview), LOC101929109 (Varview)
            Functional Consequence:
            upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            HGVS:
            6.

            rs1473993852 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G [Show Flanks]
              Chromosome:
              5:76606790 (GRCh38)
              5:75902615 (GRCh37)
              Canonical SPDI:
              NC_000005.10:76606789:C:A,NC_000005.10:76606789:C:G
              Gene:
              IQGAP2 (Varview), LOC101929109 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.00007/1 (ALFA)
              HGVS:
              7.

              rs1468553582 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                5:76607251 (GRCh38)
                5:75903076 (GRCh37)
                Canonical SPDI:
                NC_000005.10:76607250:A:C
                Gene:
                IQGAP2 (Varview), LOC101929109 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1467355552 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  5:76606682 (GRCh38)
                  5:75902507 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:76606681:C:T
                  Gene:
                  IQGAP2 (Varview), LOC101929109 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1467212094 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    5:76607739 (GRCh38)
                    5:75903564 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:76607738:G:C
                    Gene:
                    IQGAP2 (Varview), LOC101929109 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1456627317 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      5:76607845 (GRCh38)
                      5:75903670 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:76607844:C:T
                      Gene:
                      IQGAP2 (Varview), LOC101929109 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.0002/1 (ALFA)
                      T=0.0002/1 (Estonian)
                      HGVS:
                      11.

                      rs1455718385 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        5:76606815 (GRCh38)
                        5:75902640 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:76606814:A:T
                        Gene:
                        IQGAP2 (Varview), LOC101929109 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1453906204 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          5:76607917 (GRCh38)
                          5:75903742 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:76607916:A:G
                          Gene:
                          IQGAP2 (Varview), LOC101929109 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,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.

                          rs1453581186 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            5:76606806 (GRCh38)
                            5:75902631 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:76606805:A:G
                            Gene:
                            IQGAP2 (Varview), LOC101929109 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1452776926 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              5:76607902 (GRCh38)
                              5:75903727 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:76607901:C:T
                              Gene:
                              IQGAP2 (Varview), LOC101929109 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1452556408 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                5:76607609 (GRCh38)
                                5:75903434 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:76607608:T:C
                                Gene:
                                IQGAP2 (Varview), LOC101929109 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000014/2 (GnomAD)
                                C=0.000042/11 (TOPMED)
                                HGVS:
                                16.

                                rs1447724049 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  5:76607162 (GRCh38)
                                  5:75902987 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:76607161:T:G
                                  Gene:
                                  IQGAP2 (Varview), LOC101929109 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1445580133 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    5:76606877 (GRCh38)
                                    5:75902702 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:76606876:G:C
                                    Gene:
                                    IQGAP2 (Varview), LOC101929109 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000224/1 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000223/1 (Estonian)
                                    HGVS:
                                    18.

                                    rs1433978362 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      5:76606885 (GRCh38)
                                      5:75902710 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:76606884:T:C
                                      Gene:
                                      IQGAP2 (Varview), LOC101929109 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1431810482 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CA>- [Show Flanks]
                                        Chromosome:
                                        5:76607142 (GRCh38)
                                        5:75902967 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:76607139:CACA:CA
                                        Gene:
                                        IQGAP2 (Varview), LOC101929109 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CACA=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1430674409 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          5:76607405 (GRCh38)
                                          5:75903230 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:76607404:C:A
                                          Gene:
                                          IQGAP2 (Varview), LOC101929109 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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