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Items: 1 to 20 of 730

1.

rs1490800340 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    17:41517771 (GRCh38)
    17:39674023 (GRCh37)
    Canonical SPDI:
    NC_000017.11:41517770:T:C
    Gene:
    KRT15 (Varview), MIR6510 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1488905226 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,G [Show Flanks]
      Chromosome:
      17:41517595 (GRCh38)
      17:39673847 (GRCh37)
      Canonical SPDI:
      NC_000017.11:41517594:C:A,NC_000017.11:41517594:C:G
      Gene:
      KRT15 (Varview), MIR6510 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      G=0.000035/1 (TOMMO)
      A=0.000042/1 (GnomAD_exomes)
      A=0.000042/11 (TOPMED)
      A=0.000043/6 (GnomAD)
      HGVS:
      3.

      rs1488402333 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        17:41517203 (GRCh38)
        17:39673455 (GRCh37)
        Canonical SPDI:
        NC_000017.11:41517202:C:G
        Gene:
        KRT15 (Varview), MIR6510 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000035/1 (TOMMO)
        HGVS:
        4.

        rs1486557603 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          C>- [Show Flanks]
          Chromosome:
          17:41517331 (GRCh38)
          17:39673583 (GRCh37)
          Canonical SPDI:
          NC_000017.11:41517330:CC:C
          Gene:
          KRT15 (Varview), MIR6510 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CC=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          -=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1485910401 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:41518002 (GRCh38)
            17:39674254 (GRCh37)
            Canonical SPDI:
            NC_000017.11:41518001:C:T
            Gene:
            KRT15 (Varview), MIR6510 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000071/1 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1483317138 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              17:41518589 (GRCh38)
              17:39674841 (GRCh37)
              Canonical SPDI:
              NC_000017.11:41518588:C:T
              Gene:
              KRT15 (Varview), MIR6510 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1483219262 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                17:41518824 (GRCh38)
                17:39675076 (GRCh37)
                Canonical SPDI:
                NC_000017.11:41518823:T:A
                Gene:
                KRT15 (Varview), MIR6510 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000006/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1482803950 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  17:41517485 (GRCh38)
                  17:39673737 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:41517484:C:A
                  Gene:
                  KRT15 (Varview), MIR6510 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1482324381 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:41518145 (GRCh38)
                    17:39674397 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:41518144:G:A
                    Gene:
                    KRT15 (Varview), MIR6510 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000142/2 (ALFA)
                    A=0.000036/5 (GnomAD)
                    A=0.000042/11 (TOPMED)
                    HGVS:
                    11.

                    rs1478544702 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      17:41517874 (GRCh38)
                      17:39674126 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:41517873:G:C
                      Gene:
                      KRT15 (Varview), MIR6510 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      12.

                      rs1478336712 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        17:41518830 (GRCh38)
                        17:39675082 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:41518829:C:A
                        Gene:
                        KRT15 (Varview), MIR6510 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000006/1 (GnomAD_exomes)
                        HGVS:
                        13.

                        rs1475992312 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          17:41517264 (GRCh38)
                          17:39673516 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:41517263:A:G
                          Gene:
                          KRT15 (Varview), MIR6510 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          14.

                          rs1474709649 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            17:41518085 (GRCh38)
                            17:39674337 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:41518084:C:G,NC_000017.11:41518084:C:T
                            Gene:
                            KRT15 (Varview), MIR6510 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            15.

                            rs1474162804 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:41518462 (GRCh38)
                              17:39674714 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:41518461:C:T
                              Gene:
                              KRT15 (Varview), MIR6510 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              16.

                              rs1473208288 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                17:41518041 (GRCh38)
                                17:39674293 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:41518040:T:A
                                Gene:
                                KRT15 (Varview), MIR6510 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                17.

                                rs1472173565 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:41517231 (GRCh38)
                                  17:39673483 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:41517230:C:T
                                  Gene:
                                  KRT15 (Varview), MIR6510 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by cluster
                                  HGVS:
                                  18.

                                  rs1471797738 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:41517194 (GRCh38)
                                    17:39673446 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:41517193:G:A
                                    Gene:
                                    KRT15 (Varview), MIR6510 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1470786935 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      17:41516819 (GRCh38)
                                      17:39673071 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:41516818:T:C
                                      Gene:
                                      KRT15 (Varview), MIR6510 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      20.

                                      rs1468870713 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        17:41518801 (GRCh38)
                                        17:39675053 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:41518800:A:G
                                        Gene:
                                        KRT15 (Varview), MIR6510 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000142/2 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:

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