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Items: 1 to 20 of 1660

1.

rs1491449327 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C,CTC [Show Flanks]
    Chromosome:
    13:91093400 (GRCh38)
    13:91745655 (GRCh37)
    Canonical SPDI:
    NC_000013.11:91093400::C,NC_000013.11:91093400::CTC
    Gene:
    LINC00380 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    CTC=0./0 (ALFA)
    HGVS:
    2.

    rs1491263504 has merged into rs762447882 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      13:91093411 (GRCh38)
      13:91745665 (GRCh37)
      Canonical SPDI:
      NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:91093399:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      LINC00380 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTT=0./0 (ALFA)
      TTTTTTTTTTTTT=0./0 (GENOME_DK)
      HGVS:
      NC_000013.11:g.91093411_91093424del, NC_000013.11:g.91093412_91093424del, NC_000013.11:g.91093413_91093424del, NC_000013.11:g.91093414_91093424del, NC_000013.11:g.91093415_91093424del, NC_000013.11:g.91093416_91093424del, NC_000013.11:g.91093417_91093424del, NC_000013.11:g.91093418_91093424del, NC_000013.11:g.91093419_91093424del, NC_000013.11:g.91093420_91093424del, NC_000013.11:g.91093421_91093424del, NC_000013.11:g.91093422_91093424del, NC_000013.11:g.91093423_91093424del, NC_000013.11:g.91093424del, NC_000013.11:g.91093424dup, NC_000013.11:g.91093423_91093424dup, NC_000013.11:g.91093422_91093424dup, NC_000013.11:g.91093421_91093424dup, NC_000013.11:g.91093420_91093424dup, NC_000013.11:g.91093419_91093424dup, NC_000013.11:g.91093418_91093424dup, NC_000013.11:g.91093417_91093424dup, NC_000013.11:g.91093416_91093424dup, NC_000013.11:g.91093424_91093425insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.91745665_91745678del, NC_000013.10:g.91745666_91745678del, NC_000013.10:g.91745667_91745678del, NC_000013.10:g.91745668_91745678del, NC_000013.10:g.91745669_91745678del, NC_000013.10:g.91745670_91745678del, NC_000013.10:g.91745671_91745678del, NC_000013.10:g.91745672_91745678del, NC_000013.10:g.91745673_91745678del, NC_000013.10:g.91745674_91745678del, NC_000013.10:g.91745675_91745678del, NC_000013.10:g.91745676_91745678del, NC_000013.10:g.91745677_91745678del, NC_000013.10:g.91745678del, NC_000013.10:g.91745678dup, NC_000013.10:g.91745677_91745678dup, NC_000013.10:g.91745676_91745678dup, NC_000013.10:g.91745675_91745678dup, NC_000013.10:g.91745674_91745678dup, NC_000013.10:g.91745673_91745678dup, NC_000013.10:g.91745672_91745678dup, NC_000013.10:g.91745671_91745678dup, NC_000013.10:g.91745670_91745678dup, NC_000013.10:g.91745678_91745679insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      3.

      rs1491107682 has merged into rs398037743 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        13:91091871 (GRCh38)
        13:91744125 (GRCh37)
        Canonical SPDI:
        NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:91091857:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        LINC00380 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAAAA=0./0 (ALFA)
        -=0.22464/1125 (1000Genomes)
        HGVS:
        NC_000013.11:g.91091871_91091878del, NC_000013.11:g.91091872_91091878del, NC_000013.11:g.91091873_91091878del, NC_000013.11:g.91091874_91091878del, NC_000013.11:g.91091875_91091878del, NC_000013.11:g.91091876_91091878del, NC_000013.11:g.91091877_91091878del, NC_000013.11:g.91091878del, NC_000013.11:g.91091878dup, NC_000013.11:g.91091877_91091878dup, NC_000013.11:g.91091876_91091878dup, NC_000013.11:g.91091875_91091878dup, NC_000013.11:g.91091874_91091878dup, NC_000013.11:g.91091873_91091878dup, NC_000013.11:g.91091872_91091878dup, NC_000013.11:g.91091871_91091878dup, NC_000013.11:g.91091870_91091878dup, NC_000013.11:g.91091878_91091879insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.91744125_91744132del, NC_000013.10:g.91744126_91744132del, NC_000013.10:g.91744127_91744132del, NC_000013.10:g.91744128_91744132del, NC_000013.10:g.91744129_91744132del, NC_000013.10:g.91744130_91744132del, NC_000013.10:g.91744131_91744132del, NC_000013.10:g.91744132del, NC_000013.10:g.91744132dup, NC_000013.10:g.91744131_91744132dup, NC_000013.10:g.91744130_91744132dup, NC_000013.10:g.91744129_91744132dup, NC_000013.10:g.91744128_91744132dup, NC_000013.10:g.91744127_91744132dup, NC_000013.10:g.91744126_91744132dup, NC_000013.10:g.91744125_91744132dup, NC_000013.10:g.91744124_91744132dup, NC_000013.10:g.91744132_91744133insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        4.

        rs1488995900 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          13:91091165 (GRCh38)
          13:91743419 (GRCh37)
          Canonical SPDI:
          NC_000013.11:91091164:A:G
          Gene:
          LINC00380 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1488487374 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            13:91087676 (GRCh38)
            13:91739930 (GRCh37)
            Canonical SPDI:
            NC_000013.11:91087675:G:C
            Gene:
            LINC00380 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1488467781 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              13:91091654 (GRCh38)
              13:91743908 (GRCh37)
              Canonical SPDI:
              NC_000013.11:91091653:A:G
              Gene:
              LINC00380 (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:
              7.

              rs1488203317 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                13:91087912 (GRCh38)
                13:91740166 (GRCh37)
                Canonical SPDI:
                NC_000013.11:91087911:C:T
                Gene:
                LINC00380 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1486703967 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  13:91092387 (GRCh38)
                  13:91744641 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:91092386:A:G
                  Gene:
                  LINC00380 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000029/4 (GnomAD)
                  G=0.000053/14 (TOPMED)
                  HGVS:
                  9.

                  rs1486672171 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    13:91088653 (GRCh38)
                    13:91740907 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:91088652:C:T
                    Gene:
                    LINC00380 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1486270654 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      13:91091362 (GRCh38)
                      13:91743616 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:91091361:A:G
                      Gene:
                      LINC00380 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.002633/43 (ALFA)
                      G=0.000329/43 (GnomAD)
                      G=0.000531/9 (TOMMO)
                      G=0.001405/9 (1000Genomes)
                      G=0.016769/49 (KOREAN)
                      HGVS:
                      11.

                      rs1485207016 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        13:91091079 (GRCh38)
                        13:91743333 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:91091078:A:C
                        Gene:
                        LINC00380 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1484967451 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          13:91087035 (GRCh38)
                          13:91739289 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:91087034:T:C
                          Gene:
                          LINC00380 (Varview)
                          Functional Consequence:
                          500B_downstream_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1484744675 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            13:91090739 (GRCh38)
                            13:91742993 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:91090738:G:T
                            Gene:
                            LINC00380 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000008/2 (TOPMED)
                            T=0.000342/1 (KOREAN)
                            T=0.000546/1 (Korea1K)
                            T=0.000743/12 (TOMMO)
                            HGVS:
                            14.

                            rs1484292813 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              13:91092928 (GRCh38)
                              13:91745182 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:91092927:A:T
                              Gene:
                              LINC00380 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1483953148 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                13:91086907 (GRCh38)
                                13:91739161 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:91086906:C:G,NC_000013.11:91086906:C:T
                                Gene:
                                LINC00380 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1483401769 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  13:91087798 (GRCh38)
                                  13:91740052 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:91087797:A:G
                                  Gene:
                                  LINC00380 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1482781740 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    13:91087680 (GRCh38)
                                    13:91739934 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:91087679:A:G
                                    Gene:
                                    LINC00380 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1482421717 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      13:91088252 (GRCh38)
                                      13:91740506 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:91088251:A:T
                                      Gene:
                                      LINC00380 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1482110632 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        13:91093435 (GRCh38)
                                        13:91745689 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:91093434:C:A,NC_000013.11:91093434:C:T
                                        Gene:
                                        LINC00380 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.00086/13 (ALFA)
                                        T=0.00007/7 (GnomAD)
                                        A=0.00012/2 (TOMMO)
                                        T=0.00291/13 (Estonian)
                                        HGVS:
                                        20.

                                        rs1481984287 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          13:91087785 (GRCh38)
                                          13:91740039 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:91087784:G:A
                                          Gene:
                                          LINC00380 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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