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Items: 1 to 20 of 1000

1.

rs1488521954 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    18:5236258 (GRCh38)
    18:5236257 (GRCh37)
    Canonical SPDI:
    NC_000018.10:5236257:C:T
    Gene:
    LINC00526 (Varview), LINC00667 (Varview)
    Functional Consequence:
    2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000021/3 (GnomAD)
    T=0.000072/19 (TOPMED)
    HGVS:
    2.

    rs1488256411 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      18:5238077 (GRCh38)
      18:5238076 (GRCh37)
      Canonical SPDI:
      NC_000018.10:5238076:C:T
      Gene:
      LINC00526 (Varview), LINC00667 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000071/1 (ALFA)
      T=0.000049/13 (TOPMED)
      T=0.00005/7 (GnomAD)
      HGVS:
      3.

      rs1487795608 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G,T [Show Flanks]
        Chromosome:
        18:5238376 (GRCh38)
        18:5238375 (GRCh37)
        Canonical SPDI:
        NC_000018.10:5238375:C:A,NC_000018.10:5238375:C:G,NC_000018.10:5238375:C:T
        Gene:
        LINC00526 (Varview), LINC00667 (Varview)
        Functional Consequence:
        2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000014/2 (GnomAD)
        T=0.000016/2 (GnomAD_exomes)
        T=0.000026/7 (TOPMED)
        G=0.000239/4 (TOMMO)
        HGVS:
        4.

        rs1487574940 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          18:5238433 (GRCh38)
          18:5238432 (GRCh37)
          Canonical SPDI:
          NC_000018.10:5238432:G:A,NC_000018.10:5238432:G:C,NC_000018.10:5238432:G:T
          Gene:
          LINC00526 (Varview), LINC00667 (Varview)
          Functional Consequence:
          2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.000021/3 (GnomAD)
          HGVS:
          5.

          rs1486615143 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            18:5238396 (GRCh38)
            18:5238395 (GRCh37)
            Canonical SPDI:
            NC_000018.10:5238395:G:A
            Gene:
            LINC00526 (Varview), LINC00667 (Varview)
            Functional Consequence:
            2KB_upstream_variant,non_coding_transcript_variant,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:
            6.

            rs1486290188 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              18:5238642 (GRCh38)
              18:5238641 (GRCh37)
              Canonical SPDI:
              NC_000018.10:5238641:C:A
              Gene:
              LINC00526 (Varview), LINC00667 (Varview)
              Functional Consequence:
              2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1486173246 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->TCGCCGCCACCGGGAT [Show Flanks]
                Chromosome:
                18:5238032 (GRCh38)
                18:5238032 (GRCh37)
                Canonical SPDI:
                NC_000018.10:5238032:TCGCCGCCACCGGGAT:TCGCCGCCACCGGGATTCGCCGCCACCGGGAT
                Gene:
                LINC00526 (Varview), LINC00667 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                TCGCCGCCACCGGGATTCGCCGCCACCGGGAT=0./0 (ALFA)
                TCGCCGCCACCGGGAT=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1486070314 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  18:5238584 (GRCh38)
                  18:5238583 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:5238583:G:A
                  Gene:
                  LINC00526 (Varview), LINC00667 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1484288674 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    18:5239286 (GRCh38)
                    18:5239285 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:5239285:A:G
                    Gene:
                    LINC00526 (Varview), LINC00667 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000015/4 (TOPMED)
                    G=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1483805326 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,C [Show Flanks]
                      Chromosome:
                      18:5237467 (GRCh38)
                      18:5237466 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:5237466:T:A,NC_000018.10:5237466:T:C
                      Gene:
                      LINC00526 (Varview), LINC00667 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1481873061 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        18:5238931 (GRCh38)
                        18:5238930 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:5238930:A:G
                        Gene:
                        LINC00526 (Varview), LINC00667 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,non_coding_transcript_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)
                        G=0.000177/3 (TOMMO)
                        HGVS:
                        12.

                        rs1481616674 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          18:5238303 (GRCh38)
                          18:5238302 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:5238302:G:C,NC_000018.10:5238302:G:T
                          Gene:
                          LINC00526 (Varview), LINC00667 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1481486574 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            C>- [Show Flanks]
                            Chromosome:
                            18:5238088 (GRCh38)
                            18:5238087 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:5238087:CC:C
                            Gene:
                            LINC00526 (Varview), LINC00667 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CC=0.000071/1 (ALFA)
                            -=0.000004/1 (TOPMED)
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1481385090 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              18:5239701 (GRCh38)
                              18:5239700 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:5239700:A:G
                              Gene:
                              LINC00526 (Varview), LINC00667 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1479999545 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                18:5236431 (GRCh38)
                                18:5236430 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:5236430:G:A
                                Gene:
                                LINC00526 (Varview), LINC00667 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_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:
                                16.

                                rs1479611818 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  18:5236462 (GRCh38)
                                  18:5236461 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:5236461:T:G
                                  Gene:
                                  LINC00526 (Varview), LINC00667 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1479170995 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    18:5236947 (GRCh38)
                                    18:5236946 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:5236946:G:C
                                    Gene:
                                    LINC00526 (Varview), LINC00667 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1478921640 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      18:5236338 (GRCh38)
                                      18:5236337 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:5236337:T:C
                                      Gene:
                                      LINC00526 (Varview), LINC00667 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000015/4 (TOPMED)
                                      C=0.000029/4 (GnomAD)
                                      C=0.000071/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1477216260 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        18:5238329 (GRCh38)
                                        18:5238328 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:5238328:T:C,NC_000018.10:5238328:T:G
                                        Gene:
                                        LINC00526 (Varview), LINC00667 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        C=0.000007/1 (GnomAD)
                                        G=0.000008/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1476038790 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          18:5238466 (GRCh38)
                                          18:5238465 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:5238465:C:G,NC_000018.10:5238465:C:T
                                          Gene:
                                          LINC00526 (Varview), LINC00667 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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