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Items: 1 to 20 of 1000

1.

rs1491396371 has merged into rs201227589 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CG>- [Show Flanks]
    Chromosome:
    17:48612725 (GRCh38)
    17:46690087 (GRCh37)
    Canonical SPDI:
    NC_000017.11:48612723:GCG:G
    Gene:
    HOXB7 (Varview), HOXB8 (Varview)
    Functional Consequence:
    upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000061/1 (ALFA)
    -=0.000106/2 (TOMMO)
    -=0.000121/16 (GnomAD)
    HGVS:
    2.

    rs1491323817 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GA>- [Show Flanks]
      Chromosome:
      17:48611624 (GRCh38)
      17:46688986 (GRCh37)
      Canonical SPDI:
      NC_000017.11:48611622:AGA:A
      Gene:
      HOXB7 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.002023/24 (ALFA)
      -=0.002292/306 (GnomAD)
      HGVS:
      3.

      rs1490409754 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:48609711 (GRCh38)
        17:46687073 (GRCh37)
        Canonical SPDI:
        NC_000017.11:48609710:C:T
        Gene:
        HOXB7 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000015/4 (TOPMED)
        T=0.000035/1 (TOMMO)
        HGVS:
        4.

        rs1490358192 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AG>- [Show Flanks]
          Chromosome:
          17:48609680 (GRCh38)
          17:46687042 (GRCh37)
          Canonical SPDI:
          NC_000017.11:48609675:AGAGAG:AGAG
          Gene:
          HOXB7 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AGAG=0./0 (ALFA)
          -=0.000034/9 (TOPMED)
          -=0.000043/6 (GnomAD)
          HGVS:
          5.

          rs1490357835 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:48607836 (GRCh38)
            17:46685198 (GRCh37)
            Canonical SPDI:
            NC_000017.11:48607835:C:T
            Gene:
            HOXB7 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490028244 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              17:48609558 (GRCh38)
              17:46686920 (GRCh37)
              Canonical SPDI:
              NC_000017.11:48609557:C:A
              Gene:
              HOXB7 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1489916959 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:48610081 (GRCh38)
                17:46687443 (GRCh37)
                Canonical SPDI:
                NC_000017.11:48610080:G:A
                Gene:
                HOXB7 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                8.

                rs1489713755 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  17:48608242 (GRCh38)
                  17:46685604 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:48608241:T:C
                  Gene:
                  HOXB7 (Varview)
                  Functional Consequence:
                  intron_variant
                  HGVS:
                  9.

                  rs1489644498 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    17:48610450 (GRCh38)
                    17:46687812 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:48610449:G:C
                    Gene:
                    HOXB7 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489158984 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:48610601 (GRCh38)
                      17:46687963 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:48610600:C:T
                      Gene:
                      HOXB7 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      HGVS:
                      11.

                      rs1488782068 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        17:48607787 (GRCh38)
                        17:46685149 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:48607786:G:A,NC_000017.11:48607786:G:C
                        Gene:
                        HOXB7 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1488148968 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          17:48610964 (GRCh38)
                          17:46688326 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:48610963:T:G
                          Gene:
                          HOXB7 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000007/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1488143503 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            17:48611741 (GRCh38)
                            17:46689103 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:48611740:C:G
                            Gene:
                            HOXB7 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1487750188 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              17:48607407 (GRCh38)
                              17:46684769 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:48607406:G:T
                              Gene:
                              HOXB7 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487101608 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                17:48611160 (GRCh38)
                                17:46688522 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:48611159:T:C
                                Gene:
                                HOXB7 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1487087146 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C,T [Show Flanks]
                                  Chromosome:
                                  17:48608195 (GRCh38)
                                  17:46685557 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:48608194:G:A,NC_000017.11:48608194:G:C,NC_000017.11:48608194:G:T
                                  Gene:
                                  HOXB7 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1486483702 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    17:48611655 (GRCh38)
                                    17:46689017 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:48611654:T:A
                                    Gene:
                                    HOXB7 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1486400442 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:48611850 (GRCh38)
                                      17:46689212 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:48611849:G:A
                                      Gene:
                                      HOXB7 (Varview), HOXB8 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1485752137 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C,T [Show Flanks]
                                        Chromosome:
                                        17:48612597 (GRCh38)
                                        17:46689959 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:48612596:G:C,NC_000017.11:48612596:G:T
                                        Gene:
                                        HOXB7 (Varview), HOXB8 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1484866635 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          17:48609451 (GRCh38)
                                          17:46686813 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:48609450:G:T
                                          Gene:
                                          HOXB7 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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