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Items: 1 to 20 of 1429

1.

rs1490576740 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    7:79009771 (GRCh38)
    7:78639087 (GRCh37)
    Canonical SPDI:
    NC_000007.14:79009770:A:G
    Gene:
    MAGI2 (Varview), MAGI2-AS2 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000011/3 (TOPMED)
    G=0.000021/3 (GnomAD)
    HGVS:
    2.

    rs1490526455 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      7:79007634 (GRCh38)
      7:78636950 (GRCh37)
      Canonical SPDI:
      NC_000007.14:79007633:T:A,NC_000007.14:79007633:T:C
      Gene:
      MAGI2 (Varview), MAGI2-AS2 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490522347 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        A>- [Show Flanks]
        Chromosome:
        7:79012097 (GRCh38)
        7:78641413 (GRCh37)
        Canonical SPDI:
        NC_000007.14:79012096:AA:A
        Gene:
        MAGI2 (Varview), MAGI2-AS2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AA=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490092237 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          7:79010704 (GRCh38)
          7:78640020 (GRCh37)
          Canonical SPDI:
          NC_000007.14:79010703:T:C
          Gene:
          MAGI2 (Varview), MAGI2-AS2 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000019/5 (TOPMED)
          C=0.000029/4 (GnomAD)
          HGVS:
          5.

          rs1489943791 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            7:79012575 (GRCh38)
            7:78641891 (GRCh37)
            Canonical SPDI:
            NC_000007.14:79012574:A:C
            Gene:
            MAGI2 (Varview), MAGI2-AS2 (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            C=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1489469646 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              7:79007081 (GRCh38)
              7:78636397 (GRCh37)
              Canonical SPDI:
              NC_000007.14:79007080:T:C
              Gene:
              MAGI2 (Varview), MAGI2-AS2 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489110694 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                7:79008557 (GRCh38)
                7:78637874 (GRCh37)
                Canonical SPDI:
                NC_000007.14:79008557:TTTTT:TTTTTT
                Gene:
                MAGI2 (Varview), MAGI2-AS2 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTT=0./0 (ALFA)
                T=0.000029/4 (GnomAD)
                T=0.00003/8 (TOPMED)
                HGVS:
                8.

                rs1488718275 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  7:79008639 (GRCh38)
                  7:78637955 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:79008638:A:T
                  Gene:
                  MAGI2 (Varview), MAGI2-AS2 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1488645789 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    7:79007514 (GRCh38)
                    7:78636830 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:79007513:T:A
                    Gene:
                    MAGI2 (Varview), MAGI2-AS2 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_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:
                    10.

                    rs1488593200 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      7:79011513 (GRCh38)
                      7:78640829 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:79011512:C:G
                      Gene:
                      MAGI2 (Varview), MAGI2-AS2 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1488127769 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        G>- [Show Flanks]
                        Chromosome:
                        7:79008034 (GRCh38)
                        7:78637350 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:79008033:G:
                        Gene:
                        MAGI2 (Varview), MAGI2-AS2 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000011/3 (TOPMED)
                        -=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1487977856 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          7:79011600 (GRCh38)
                          7:78640916 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:79011599:C:A
                          Gene:
                          MAGI2 (Varview), MAGI2-AS2 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_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:
                          13.

                          rs1487950779 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            7:79010549 (GRCh38)
                            7:78639865 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:79010548:T:G
                            Gene:
                            MAGI2 (Varview), MAGI2-AS2 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1487868222 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              7:79008695 (GRCh38)
                              7:78638011 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:79008694:A:G
                              Gene:
                              MAGI2 (Varview), MAGI2-AS2 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1486836917 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                7:79009914 (GRCh38)
                                7:78639230 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:79009913:T:C
                                Gene:
                                MAGI2 (Varview), MAGI2-AS2 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1486426594 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  7:79011275 (GRCh38)
                                  7:78640591 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:79011274:A:G
                                  Gene:
                                  MAGI2 (Varview), MAGI2-AS2 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1486395633 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->C [Show Flanks]
                                    Chromosome:
                                    7:79009028 (GRCh38)
                                    7:78638345 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:79009028:C:CC
                                    Gene:
                                    MAGI2 (Varview), MAGI2-AS2 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    CC=0./0 (ALFA)
                                    C=0.000023/6 (TOPMED)
                                    C=0.000036/5 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485456788 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      7:79008424 (GRCh38)
                                      7:78637740 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:79008423:C:T
                                      Gene:
                                      MAGI2 (Varview), MAGI2-AS2 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1484546175 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        7:79009395 (GRCh38)
                                        7:78638711 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:79009394:T:C
                                        Gene:
                                        MAGI2 (Varview), MAGI2-AS2 (Varview)
                                        Functional Consequence:
                                        genic_upstream_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:
                                        20.

                                        rs1484288745 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          7:79012285 (GRCh38)
                                          7:78641601 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:79012284:C:G
                                          Gene:
                                          MAGI2 (Varview), MAGI2-AS2 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000072/19 (TOPMED)
                                          HGVS:

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