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Items: 1 to 20 of 912

1.

rs1490630037 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    C>- [Show Flanks]
    Chromosome:
    5:50970362 (GRCh38)
    5:50266196 (GRCh37)
    Canonical SPDI:
    NC_000005.10:50970361:C:
    Gene:
    LINC02106 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000007/1 (GnomAD)
    -=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1490584415 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      5:50969556 (GRCh38)
      5:50265390 (GRCh37)
      Canonical SPDI:
      NC_000005.10:50969555:C:T
      Gene:
      LINC02106 (Varview), LOC124901181 (Varview)
      Functional Consequence:
      upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000019/5 (TOPMED)
      T=0.000029/4 (GnomAD)
      HGVS:
      3.

      rs1490398707 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        5:50971740 (GRCh38)
        5:50267574 (GRCh37)
        Canonical SPDI:
        NC_000005.10:50971739:G:T
        Gene:
        LINC02106 (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:
        4.

        rs1490368031 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          5:50969691 (GRCh38)
          5:50265525 (GRCh37)
          Canonical SPDI:
          NC_000005.10:50969690:G:A,NC_000005.10:50969690:G:C
          Gene:
          LINC02106 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          5.

          rs1490203845 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A,G [Show Flanks]
            Chromosome:
            5:50970664 (GRCh38)
            5:50266498 (GRCh37)
            Canonical SPDI:
            NC_000005.10:50970663:T:A,NC_000005.10:50970663:T:G
            Gene:
            LINC02106 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            A=0.000043/6 (GnomAD)
            A=0.000156/1 (1000Genomes)
            HGVS:
            6.

            rs1489458103 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              5:50968766 (GRCh38)
              5:50264600 (GRCh37)
              Canonical SPDI:
              NC_000005.10:50968765:A:G
              Gene:
              LINC02106 (Varview), LOC124901181 (Varview)
              Functional Consequence:
              500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1488127533 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TT>-,TTT [Show Flanks]
                Chromosome:
                5:50970874 (GRCh38)
                5:50266708 (GRCh37)
                Canonical SPDI:
                NC_000005.10:50970869:TTTTTT:TTTT,NC_000005.10:50970869:TTTTTT:TTTTTTT
                Gene:
                LINC02106 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTT=0./0 (ALFA)
                HGVS:
                8.

                rs1487100252 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  5:50970490 (GRCh38)
                  5:50266324 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:50970489:G:A
                  Gene:
                  LINC02106 (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:
                  9.

                  rs1485349827 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    A>- [Show Flanks]
                    Chromosome:
                    5:50972007 (GRCh38)
                    5:50267841 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:50972006:A:
                    Gene:
                    LINC02106 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.00028/16 (GnomAD)
                    HGVS:
                    10.

                    rs1485135227 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      5:50968893 (GRCh38)
                      5:50264727 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:50968892:CCCCC:CCCC
                      Gene:
                      LINC02106 (Varview), LOC124901181 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CCCC=0.000071/1 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1484003930 has merged into rs57384878 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA [Show Flanks]
                        Chromosome:
                        5:50972012 (GRCh38)
                        5:50267846 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:50972010:ACACACACACACACACACACA:A,NC_000005.10:50972010:ACACACACACACACACACACA:ACA,NC_000005.10:50972010:ACACACACACACACACACACA:ACACA,NC_000005.10:50972010:ACACACACACACACACACACA:ACACACA,NC_000005.10:50972010:ACACACACACACACACACACA:ACACACACA,NC_000005.10:50972010:ACACACACACACACACACACA:ACACACACACA,NC_000005.10:50972010:ACACACACACACACACACACA:ACACACACACACA,NC_000005.10:50972010:ACACACACACACACACACACA:ACACACACACACACA,NC_000005.10:50972010:ACACACACACACACACACACA:ACACACACACACACACA,NC_000005.10:50972010:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000005.10:50972010:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000005.10:50972010:ACACACACACACACACACACA:ACACACACACACACACACACACACA
                        Gene:
                        LINC02106 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        ACACACACACA=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1483386647 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          5:50971664 (GRCh38)
                          5:50267498 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:50971663:A:G
                          Gene:
                          LINC02106 (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=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1483180174 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            5:50969020 (GRCh38)
                            5:50264854 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:50969019:T:C
                            Gene:
                            LINC02106 (Varview), LOC124901181 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1482963065 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,G [Show Flanks]
                              Chromosome:
                              5:50971276 (GRCh38)
                              5:50267110 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:50971275:T:A,NC_000005.10:50971275:T:G
                              Gene:
                              LINC02106 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1482552674 has merged into rs71612394 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TATATATATATATATATATATATATATATA>-,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
                                Chromosome:
                                5:50971982 (GRCh38)
                                5:50267816 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:50971973:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
                                Gene:
                                LINC02106 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TATATATA=0./0 (ALFA)
                                HGVS:
                                NC_000005.10:g.50971974TA[4], NC_000005.10:g.50971974TA[6], NC_000005.10:g.50971974TA[7], NC_000005.10:g.50971974TA[8], NC_000005.10:g.50971974TA[9], NC_000005.10:g.50971974TA[10], NC_000005.10:g.50971974TA[11], NC_000005.10:g.50971974TA[12], NC_000005.10:g.50971974TA[13], NC_000005.10:g.50971974TA[14], NC_000005.10:g.50971974TA[15], NC_000005.10:g.50971974TA[16], NC_000005.10:g.50971974TA[17], NC_000005.10:g.50971974TA[18], NC_000005.10:g.50971974TA[20], NC_000005.10:g.50971974TA[21], NC_000005.10:g.50971974TA[22], NC_000005.10:g.50971974TA[23], NC_000005.10:g.50971974TA[24], NC_000005.10:g.50971974TA[25], NC_000005.10:g.50971974TA[26], NC_000005.10:g.50971974TA[27], NC_000005.10:g.50971974TA[29], NC_000005.9:g.50267808TA[4], NC_000005.9:g.50267808TA[6], NC_000005.9:g.50267808TA[7], NC_000005.9:g.50267808TA[8], NC_000005.9:g.50267808TA[9], NC_000005.9:g.50267808TA[10], NC_000005.9:g.50267808TA[11], NC_000005.9:g.50267808TA[12], NC_000005.9:g.50267808TA[13], NC_000005.9:g.50267808TA[14], NC_000005.9:g.50267808TA[15], NC_000005.9:g.50267808TA[16], NC_000005.9:g.50267808TA[17], NC_000005.9:g.50267808TA[18], NC_000005.9:g.50267808TA[20], NC_000005.9:g.50267808TA[21], NC_000005.9:g.50267808TA[22], NC_000005.9:g.50267808TA[23], NC_000005.9:g.50267808TA[24], NC_000005.9:g.50267808TA[25], NC_000005.9:g.50267808TA[26], NC_000005.9:g.50267808TA[27], NC_000005.9:g.50267808TA[29]
                                16.

                                rs1482145829 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  5:50970905 (GRCh38)
                                  5:50266739 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:50970904:A:C
                                  Gene:
                                  LINC02106 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000036/5 (GnomAD)
                                  C=0.000038/10 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1482113264 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    5:50968741 (GRCh38)
                                    5:50264575 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:50968740:G:A
                                    Gene:
                                    LINC02106 (Varview), LOC124901181 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1482038947 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      5:50971753 (GRCh38)
                                      5:50267587 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:50971752:C:T
                                      Gene:
                                      LINC02106 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1481671280 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        5:50969002 (GRCh38)
                                        5:50264836 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:50969001:C:A
                                        Gene:
                                        LINC02106 (Varview), LOC124901181 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1481424534 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          5:50970743 (GRCh38)
                                          5:50266577 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:50970742:A:G
                                          Gene:
                                          LINC02106 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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