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Items: 1 to 20 of 12067

1.

rs1491553805 has merged into rs140642017 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA [Show Flanks]
    Chromosome:
    8:48813011 (GRCh38)
    8:49725570 (GRCh37)
    Canonical SPDI:
    NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA
    Gene:
    LOC105375825 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ACACACACACACACACACA=0./0 (ALFA)
    HGVS:
    NC_000008.11:g.48812995CA[8], NC_000008.11:g.48812995CA[9], NC_000008.11:g.48812995CA[10], NC_000008.11:g.48812995CA[11], NC_000008.11:g.48812995CA[12], NC_000008.11:g.48812995CA[13], NC_000008.11:g.48812995CA[14], NC_000008.11:g.48812995CA[16], NC_000008.11:g.48812995CA[17], NC_000008.11:g.48812995CA[18], NC_000008.11:g.48812995CA[19], NC_000008.11:g.48812995CA[20], NC_000008.11:g.48812995CA[21], NC_000008.11:g.48812995CA[22], NC_000008.11:g.48812995CA[23], NC_000008.11:g.48812995CA[24], NC_000008.11:g.48812995CA[25], NC_000008.10:g.49725554CA[8], NC_000008.10:g.49725554CA[9], NC_000008.10:g.49725554CA[10], NC_000008.10:g.49725554CA[11], NC_000008.10:g.49725554CA[12], NC_000008.10:g.49725554CA[13], NC_000008.10:g.49725554CA[14], NC_000008.10:g.49725554CA[16], NC_000008.10:g.49725554CA[17], NC_000008.10:g.49725554CA[18], NC_000008.10:g.49725554CA[19], NC_000008.10:g.49725554CA[20], NC_000008.10:g.49725554CA[21], NC_000008.10:g.49725554CA[22], NC_000008.10:g.49725554CA[23], NC_000008.10:g.49725554CA[24], NC_000008.10:g.49725554CA[25]
    2.

    rs1491386685 has merged into rs34669810 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AA>-,A,AAA,AAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      8:48810125 (GRCh38)
      8:49722684 (GRCh37)
      Canonical SPDI:
      NC_000008.11:48810112:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:48810112:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:48810112:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:48810112:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:48810112:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      LOC105375825 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAAAA=0./0 (ALFA)
      HGVS:
      3.

      rs1491371754 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>- [Show Flanks]
        Chromosome:
        8:48796804 (GRCh38)
        8:49709363 (GRCh37)
        Canonical SPDI:
        NC_000008.11:48796798:TTTTTTT:TTTTT
        Gene:
        LOC105375825 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTT=0./0 (ALFA)
        -=0.000007/1 (GnomAD)
        -=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1491306294 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          8:48796799 (GRCh38)
          8:49709359 (GRCh37)
          Canonical SPDI:
          NC_000008.11:48796799::C
          Gene:
          LOC105375825 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000043/6 (GnomAD)
          HGVS:
          5.

          rs1491003878 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            8:48827298 (GRCh38)
            8:49739857 (GRCh37)
            Canonical SPDI:
            NC_000008.11:48827297:A:G
            Gene:
            LOC105375825 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000295/78 (TOPMED)
            G=0.000335/47 (GnomAD)
            HGVS:
            6.

            rs1490956998 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              8:48779214 (GRCh38)
              8:49691773 (GRCh37)
              Canonical SPDI:
              NC_000008.11:48779213:T:C
              Gene:
              LOC105375825 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490841784 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                8:48794290 (GRCh38)
                8:49706849 (GRCh37)
                Canonical SPDI:
                NC_000008.11:48794289:T:A
                Gene:
                LOC105375825 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490760075 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  G>- [Show Flanks]
                  Chromosome:
                  8:48817660 (GRCh38)
                  8:49730219 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:48817659:G:
                  Gene:
                  LOC105375825 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency
                  MAF:
                  -=0.000015/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490615691 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    8:48799910 (GRCh38)
                    8:49712469 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:48799909:G:A,NC_000008.11:48799909:G:T
                    Gene:
                    LOC105375825 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.00007/1 (TOMMO)
                    T=0.00016/1 (1000Genomes)
                    T=0.00068/2 (KOREAN)
                    HGVS:
                    10.

                    rs1490536828 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->TTT [Show Flanks]
                      Chromosome:
                      8:48785616 (GRCh38)
                      8:49698176 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:48785616:TTT:TTTTTT
                      Gene:
                      LOC105375825 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TTTTTT=0.000071/1 (ALFA)
                      TTT=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490513371 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        8:48826817 (GRCh38)
                        8:49739376 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:48826816:T:A
                        Gene:
                        LOC105375825 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1490466666 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          8:48778681 (GRCh38)
                          8:49691240 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:48778680:C:T
                          Gene:
                          LOC105375825 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000019/5 (TOPMED)
                          T=0.000057/8 (GnomAD)
                          HGVS:
                          13.

                          rs1490421750 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            8:48786535 (GRCh38)
                            8:49699094 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:48786534:A:G
                            Gene:
                            LOC105375825 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1490360596 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              8:48789088 (GRCh38)
                              8:49701647 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:48789087:A:T
                              Gene:
                              LOC105375825 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1490352050 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                8:48793999 (GRCh38)
                                8:49706558 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:48793998:G:A
                                Gene:
                                LOC105375825 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1490343722 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  8:48786216 (GRCh38)
                                  8:49698775 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:48786215:A:G
                                  Gene:
                                  LOC105375825 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490298008 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    A>- [Show Flanks]
                                    Chromosome:
                                    8:48798544 (GRCh38)
                                    8:49711103 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:48798543:AA:A
                                    Gene:
                                    LOC105375825 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    AA=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490285830 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      8:48811089 (GRCh38)
                                      8:49723648 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:48811088:A:T
                                      Gene:
                                      LOC105375825 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490259373 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        8:48812183 (GRCh38)
                                        8:49724742 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:48812182:C:T
                                        Gene:
                                        LOC105375825 (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)
                                        HGVS:
                                        20.

                                        rs1490237085 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          8:48825949 (GRCh38)
                                          8:49738508 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:48825948:A:G
                                          Gene:
                                          LOC105375825 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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