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Items: 1 to 20 of 4504

1.

rs1491444835 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CCTCTC [Show Flanks]
    Chromosome:
    10:17224446 (GRCh38)
    10:17266446 (GRCh37)
    Canonical SPDI:
    NC_000010.11:17224446:CTCTC:CTCTCCCTCTC
    Gene:
    VIM-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    CTCTCCCTCTC=0./0 (ALFA)
    HGVS:
    2.

    rs1491187831 has merged into rs371871136 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
      Chromosome:
      10:17224465 (GRCh38)
      10:17266464 (GRCh37)
      Canonical SPDI:
      NC_000010.11:17224445:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000010.11:17224445:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000010.11:17224445:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:17224445:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:17224445:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:17224445:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:17224445:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:17224445:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:17224445:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:17224445:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:17224445:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000010.11:17224445:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
      Gene:
      VIM-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TCTCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
      TCTCTCTCTCTCTCTCTC=0.000004/1 (TOPMED)
      HGVS:
      NC_000010.11:g.17224447CT[9], NC_000010.11:g.17224447CT[10], NC_000010.11:g.17224447CT[11], NC_000010.11:g.17224447CT[12], NC_000010.11:g.17224447CT[14], NC_000010.11:g.17224447CT[15], NC_000010.11:g.17224447CT[16], NC_000010.11:g.17224447CT[17], NC_000010.11:g.17224447CT[18], NC_000010.11:g.17224447CT[19], NC_000010.11:g.17224447CT[20], NC_000010.11:g.17224447CT[22], NC_000010.10:g.17266446CT[9], NC_000010.10:g.17266446CT[10], NC_000010.10:g.17266446CT[11], NC_000010.10:g.17266446CT[12], NC_000010.10:g.17266446CT[14], NC_000010.10:g.17266446CT[15], NC_000010.10:g.17266446CT[16], NC_000010.10:g.17266446CT[17], NC_000010.10:g.17266446CT[18], NC_000010.10:g.17266446CT[19], NC_000010.10:g.17266446CT[20], NC_000010.10:g.17266446CT[22], NG_012413.1:g.1189CT[9], NG_012413.1:g.1189CT[10], NG_012413.1:g.1189CT[11], NG_012413.1:g.1189CT[12], NG_012413.1:g.1189CT[14], NG_012413.1:g.1189CT[15], NG_012413.1:g.1189CT[16], NG_012413.1:g.1189CT[17], NG_012413.1:g.1189CT[18], NG_012413.1:g.1189CT[19], NG_012413.1:g.1189CT[20], NG_012413.1:g.1189CT[22]
      3.

      rs1491043813 has merged into rs565004468 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        10:17220232 (GRCh38)
        10:17262231 (GRCh37)
        Canonical SPDI:
        NC_000010.11:17220223:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:17220223:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:17220223:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:17220223:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:17220223:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:17220223:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:17220223:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:17220223:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:17220223:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:17220223:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:17220223:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:17220223:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:17220223:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        VIM-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAA=0./0 (ALFA)
        A=0.02166/12 (NorthernSweden)
        HGVS:
        NC_000010.11:g.17220232_17220242del, NC_000010.11:g.17220233_17220242del, NC_000010.11:g.17220237_17220242del, NC_000010.11:g.17220238_17220242del, NC_000010.11:g.17220239_17220242del, NC_000010.11:g.17220240_17220242del, NC_000010.11:g.17220241_17220242del, NC_000010.11:g.17220242del, NC_000010.11:g.17220242dup, NC_000010.11:g.17220241_17220242dup, NC_000010.11:g.17220240_17220242dup, NC_000010.11:g.17220239_17220242dup, NC_000010.11:g.17220238_17220242dup, NC_000010.10:g.17262231_17262241del, NC_000010.10:g.17262232_17262241del, NC_000010.10:g.17262236_17262241del, NC_000010.10:g.17262237_17262241del, NC_000010.10:g.17262238_17262241del, NC_000010.10:g.17262239_17262241del, NC_000010.10:g.17262240_17262241del, NC_000010.10:g.17262241del, NC_000010.10:g.17262241dup, NC_000010.10:g.17262240_17262241dup, NC_000010.10:g.17262239_17262241dup, NC_000010.10:g.17262238_17262241dup, NC_000010.10:g.17262237_17262241dup
        4.

        rs1490862808 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          10:17230637 (GRCh38)
          10:17272637 (GRCh37)
          Canonical SPDI:
          NC_000010.11:17230637:C:CC
          Gene:
          VIM (Varview), VIM-AS1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CC=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490800513 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            10:17223644 (GRCh38)
            10:17265643 (GRCh37)
            Canonical SPDI:
            NC_000010.11:17223643:C:A,NC_000010.11:17223643:C:T
            Gene:
            VIM-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490688070 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              10:17214055 (GRCh38)
              10:17256054 (GRCh37)
              Canonical SPDI:
              NC_000010.11:17214054:C:A,NC_000010.11:17214054:C:T
              Gene:
              VIM-AS1 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1490468889 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                10:17228409 (GRCh38)
                10:17270408 (GRCh37)
                Canonical SPDI:
                NC_000010.11:17228408:T:C
                Gene:
                VIM (Varview), VIM-AS1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000019/5 (TOPMED)
                C=0.000035/1 (TOMMO)
                C=0.000036/5 (GnomAD)
                C=0.001667/1 (NorthernSweden)
                HGVS:
                8.

                rs1490373098 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  10:17231017 (GRCh38)
                  10:17273016 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:17231016:G:A
                  Gene:
                  VIM (Varview), VIM-AS1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490044981 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    10:17230333 (GRCh38)
                    10:17272332 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:17230332:G:A
                    Gene:
                    VIM (Varview), VIM-AS1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1489915515 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:17228426 (GRCh38)
                      10:17270425 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:17228425:T:C
                      Gene:
                      VIM (Varview), VIM-AS1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489348822 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        10:17222341 (GRCh38)
                        10:17264340 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:17222340:T:A
                        Gene:
                        VIM-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1489197347 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          T>-,TT [Show Flanks]
                          Chromosome:
                          10:17214356 (GRCh38)
                          10:17256355 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:17214355:TTTTTT:TTTTT,NC_000010.11:17214355:TTTTTT:TTTTTTT
                          Gene:
                          VIM-AS1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTT=0.00007/1 (ALFA)
                          HGVS:
                          13.

                          rs1489134333 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            10:17215377 (GRCh38)
                            10:17257376 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:17215376:G:A
                            Gene:
                            VIM-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489124179 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              10:17215387 (GRCh38)
                              10:17257386 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:17215386:A:G
                              Gene:
                              VIM-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1489093717 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                10:17215673 (GRCh38)
                                10:17257672 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:17215672:G:A,NC_000010.11:17215672:G:T
                                Gene:
                                VIM-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1488976934 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  10:17228553 (GRCh38)
                                  10:17270552 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:17228552:C:T
                                  Gene:
                                  VIM (Varview), VIM-AS1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000546/1 (Korea1K)
                                  T=0.001026/17 (TOMMO)
                                  T=0.001712/5 (KOREAN)
                                  HGVS:
                                  17.

                                  rs1488790109 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,G [Show Flanks]
                                    Chromosome:
                                    10:17225121 (GRCh38)
                                    10:17267120 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:17225120:T:A,NC_000010.11:17225120:T:G
                                    Gene:
                                    VIM-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1488543641 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      10:17222759 (GRCh38)
                                      10:17264758 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:17222758:A:T
                                      Gene:
                                      VIM-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1488476644 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        TA>- [Show Flanks]
                                        Chromosome:
                                        10:17214787 (GRCh38)
                                        10:17256786 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:17214786:TA:
                                        Gene:
                                        VIM-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488455352 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          10:17223080 (GRCh38)
                                          10:17265079 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:17223079:T:A
                                          Gene:
                                          VIM-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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