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Items: 1 to 20 of 1000

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.

    rs1490225081 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      17:41514615 (GRCh38)
      17:39670867 (GRCh37)
      Canonical SPDI:
      NC_000017.11:41514614:C:T
      Gene:
      KRT15 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490023683 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        17:41522776 (GRCh38)
        17:39679028 (GRCh37)
        Canonical SPDI:
        NC_000017.11:41522775:A:T
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1489604629 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G,T [Show Flanks]
          Chromosome:
          17:41515708 (GRCh38)
          17:39671960 (GRCh37)
          Canonical SPDI:
          NC_000017.11:41515707:A:G,NC_000017.11:41515707:A:T
          Gene:
          KRT15 (Varview)
          Functional Consequence:
          intron_variant
          HGVS:
          5.

          rs1489387137 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            17:41523357 (GRCh38)
            17:39679609 (GRCh37)
            Canonical SPDI:
            NC_000017.11:41523356:T:C
            Gene:
            KRT19 (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1489131076 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              17:41513637 (GRCh38)
              17:39669889 (GRCh37)
              Canonical SPDI:
              NC_000017.11:41513636:G:A,NC_000017.11:41513636:G:C
              Gene:
              KRT15 (Varview)
              Functional Consequence:
              downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              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:
                8.

                rs1488876700 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  17:41523737 (GRCh38)
                  17:39679989 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:41523736:G:A
                  Gene:
                  KRT19 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  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:
                    10.

                    rs1488400260 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:41522887 (GRCh38)
                      17:39679139 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:41522886:G:A
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1488368246 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        17:41521882 (GRCh38)
                        17:39678134 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:41521881:C:A
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1488334182 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          17:41520769 (GRCh38)
                          17:39677021 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:41520768:T:A
                          Gene:
                          KRT15 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1488202794 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            17:41514399 (GRCh38)
                            17:39670651 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:41514398:G:T
                            Gene:
                            KRT15 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000106/2 (TOMMO)
                            HGVS:
                            14.

                            rs1487798321 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:41514070 (GRCh38)
                              17:39670322 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:41514069:C:T
                              Gene:
                              KRT15 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1487388537 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,T [Show Flanks]
                                Chromosome:
                                17:41521428 (GRCh38)
                                17:39677680 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:41521427:A:C,NC_000017.11:41521427:A:T
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1486990063 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  A>- [Show Flanks]
                                  Chromosome:
                                  17:41515937 (GRCh38)
                                  17:39672189 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:41515936:A:
                                  Gene:
                                  KRT15 (Varview)
                                  Functional Consequence:
                                  frameshift_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0.000051/1 (ALFA)
                                  -=0.000008/2 (TOPMED)
                                  -=0.000012/3 (GnomAD_exomes)
                                  -=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1486797426 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    17:41513615 (GRCh38)
                                    17:39669867 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:41513614:A:G
                                    Gene:
                                    KRT15 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1486759319 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:41520342 (GRCh38)
                                      17:39676594 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:41520341:G:A
                                      Gene:
                                      KRT15 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      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:
                                        20.

                                        rs1486242113 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          17:41513528 (GRCh38)
                                          17:39669780 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:41513527:C:A
                                          Gene:
                                          KRT15 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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