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Items: 1 to 20 of 3425

1.

rs1491217719 has merged into rs1397148293 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GG>-,G,GGG,GGGG,GGGGG [Show Flanks]
    Chromosome:
    20:29549071 (GRCh38)
    20:7 (GRCh37)
    Canonical SPDI:
    NC_000020.11:29549062:GGGGGGGGGG:GGGGGGGG,NC_000020.11:29549062:GGGGGGGGGG:GGGGGGGGG,NC_000020.11:29549062:GGGGGGGGGG:GGGGGGGGGGG,NC_000020.11:29549062:GGGGGGGGGG:GGGGGGGGGGGG,NC_000020.11:29549062:GGGGGGGGGG:GGGGGGGGGGGGG
    Gene:
    FAM242B (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGGGGGGGG=0./0 (ALFA)
    HGVS:
    2.

    rs1491171870 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CG [Show Flanks]
      Chromosome:
      20:29549063 (GRCh38)
      20:-1 (GRCh37)
      Canonical SPDI:
      NC_000020.11:29549063:G:GCG
      Gene:
      FAM242B (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      GCG=0./0 (ALFA)
      HGVS:
      3.

      rs1490963952 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        20:29559001 (GRCh38)
        20:-1 (GRCh37)
        Canonical SPDI:
        NC_000020.11:29559000:C:G
        Gene:
        FAM242B (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.00017/2 (ALFA)
        HGVS:
        4.

        rs1490866770 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          20:29558239 (GRCh38)
          20:-1 (GRCh37)
          Canonical SPDI:
          NC_000020.11:29558238:G:A
          Gene:
          FAM242B (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.00017/2 (ALFA)
          HGVS:
          5.

          rs1490858701 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            20:29548144 (GRCh38)
            20:-1 (GRCh37)
            Canonical SPDI:
            NC_000020.11:29548143:C:A
            Gene:
            FAM242B (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            6.

            rs1490794405 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              20:29553856 (GRCh38)
              20:-1 (GRCh37)
              Canonical SPDI:
              NC_000020.11:29553855:C:T
              Gene:
              FAM242B (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1490664534 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                20:29552710 (GRCh38)
                20:-1 (GRCh37)
                Canonical SPDI:
                NC_000020.11:29552709:G:A
                Gene:
                FAM242B (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.00025/3 (ALFA)
                HGVS:
                8.

                rs1490629209 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,G [Show Flanks]
                  Chromosome:
                  20:29553481 (GRCh38)
                  20:-1 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:29553480:T:A,NC_000020.11:29553480:T:G
                  Gene:
                  FAM242B (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490460112 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    20:29547501 (GRCh38)
                    20:-1 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:29547500:G:A
                    Gene:
                    FAM242B (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.00034/4 (ALFA)
                    HGVS:
                    10.

                    rs1490330298 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      20:29553410 (GRCh38)
                      20:-1 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:29553409:T:G
                      Gene:
                      FAM242B (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490273781 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        20:29554150 (GRCh38)
                        20:-1 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:29554149:G:A
                        Gene:
                        FAM242B (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1490134757 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          20:29548138 (GRCh38)
                          20:-1 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:29548137:G:A
                          Gene:
                          FAM242B (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489971268 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            20:29547841 (GRCh38)
                            20:-1 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:29547840:C:G
                            Gene:
                            FAM242B (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1489820338 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              20:29559268 (GRCh38)
                              20:-1 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:29559267:A:G
                              Gene:
                              FAM242B (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.00008/1 (ALFA)
                              HGVS:
                              15.

                              rs1489650551 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C,T [Show Flanks]
                                Chromosome:
                                20:29558593 (GRCh38)
                                20:-1 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:29558592:G:C,NC_000020.11:29558592:G:T
                                Gene:
                                FAM242B (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1489635147 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  20:29548444 (GRCh38)
                                  20:-1 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:29548443:C:A,NC_000020.11:29548443:C:T
                                  Gene:
                                  FAM242B (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.00016/1 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1489392102 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    T>- [Show Flanks]
                                    Chromosome:
                                    20:29554434 (GRCh38)
                                    20:-1 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:29554433:T:
                                    Gene:
                                    FAM242B (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.00014/4 (TOMMO)
                                    -=0.00109/2 (Korea1K)
                                    HGVS:
                                    18.

                                    rs1489390601 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      20:29552191 (GRCh38)
                                      20:-1 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:29552190:C:T
                                      Gene:
                                      FAM242B (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1489227080 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        20:29560242 (GRCh38)
                                        20:-1 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:29560241:G:A
                                        Gene:
                                        FAM242B (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1489204648 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          20:29559825 (GRCh38)
                                          20:-1 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:29559824:T:C
                                          Gene:
                                          FAM242B (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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