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Items: 1 to 20 of 539

1.

rs1490989909 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    21:25584636 (GRCh38)
    21:26956948 (GRCh37)
    Canonical SPDI:
    NC_000021.9:25584635:T:C
    Gene:
    LINC00515 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1490347920 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      21:25583338 (GRCh38)
      21:26955650 (GRCh37)
      Canonical SPDI:
      NC_000021.9:25583337:C:G
      Gene:
      LINC00515 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000021/3 (GnomAD)
      G=0.000035/1 (TOMMO)
      HGVS:
      3.

      rs1486198920 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        21:25584475 (GRCh38)
        21:26956787 (GRCh37)
        Canonical SPDI:
        NC_000021.9:25584474:G:A
        Gene:
        LINC00515 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1483364259 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          21:25582826 (GRCh38)
          21:26955138 (GRCh37)
          Canonical SPDI:
          NC_000021.9:25582825:A:C
          Gene:
          LINC00515 (Varview)
          Functional Consequence:
          non_coding_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:
          5.

          rs1480121228 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            21:25584817 (GRCh38)
            21:26957129 (GRCh37)
            Canonical SPDI:
            NC_000021.9:25584816:A:T
            Gene:
            LINC00515 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1479341668 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              21:25582325 (GRCh38)
              21:26954637 (GRCh37)
              Canonical SPDI:
              NC_000021.9:25582324:G:A
              Gene:
              LINC00515 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000084/1 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1476177515 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                21:25585153 (GRCh38)
                21:26957465 (GRCh37)
                Canonical SPDI:
                NC_000021.9:25585152:T:C
                Gene:
                LINC00515 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000023/6 (TOPMED)
                HGVS:
                8.

                rs1474212474 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  21:25584020 (GRCh38)
                  21:26956333 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:25584020:T:TT
                  Gene:
                  LINC00515 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TT=0./0 (ALFA)
                  T=0.000023/6 (TOPMED)
                  T=0.000029/4 (GnomAD)
                  T=0.000106/2 (TOMMO)
                  HGVS:
                  9.

                  rs1473435795 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CAA>- [Show Flanks]
                    Chromosome:
                    21:25582586 (GRCh38)
                    21:26954898 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:25582583:AACAA:AA
                    Gene:
                    LINC00515 (Varview)
                    Functional Consequence:
                    500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    AA=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1470700663 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      21:25583393 (GRCh38)
                      21:26955705 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:25583392:A:T
                      Gene:
                      LINC00515 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1470111822 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        21:25583608 (GRCh38)
                        21:26955920 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:25583607:C:T
                        Gene:
                        LINC00515 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1469012009 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          21:25582939 (GRCh38)
                          21:26955251 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:25582938:C:T
                          Gene:
                          LINC00515 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1468965280 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            21:25584315 (GRCh38)
                            21:26956627 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:25584314:T:C
                            Gene:
                            LINC00515 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1465958190 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              21:25583663 (GRCh38)
                              21:26955975 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:25583662:A:G
                              Gene:
                              LINC00515 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1464283699 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                21:25584435 (GRCh38)
                                21:26956747 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:25584434:A:G
                                Gene:
                                LINC00515 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                G=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1461588513 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  21:25582887 (GRCh38)
                                  21:26955199 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:25582886:A:G
                                  Gene:
                                  LINC00515 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.0007/3 (ALFA)
                                  G=0.0007/3 (Estonian)
                                  HGVS:
                                  17.

                                  rs1461472455 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    T>- [Show Flanks]
                                    Chromosome:
                                    21:25584880 (GRCh38)
                                    21:26957192 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:25584879:T:
                                    Gene:
                                    LINC00515 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1460788655 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      21:25582909 (GRCh38)
                                      21:26955221 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:25582908:T:G
                                      Gene:
                                      LINC00515 (Varview)
                                      Functional Consequence:
                                      non_coding_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:
                                      19.

                                      rs1460198394 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        G>- [Show Flanks]
                                        Chromosome:
                                        21:25584319 (GRCh38)
                                        21:26956631 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:25584318:G:
                                        Gene:
                                        LINC00515 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000093/13 (GnomAD)
                                        -=0.000246/65 (TOPMED)
                                        -=0.000546/1 (Korea1K)
                                        -=0.000637/11 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1460046752 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          21:25584061 (GRCh38)
                                          21:26956373 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:25584060:C:T
                                          Gene:
                                          LINC00515 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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