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Items: 1 to 20 of 2221

1.

rs1490296501 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    13:60152738 (GRCh38)
    13:60726872 (GRCh37)
    Canonical SPDI:
    NC_000013.11:60152737:T:C
    Gene:
    DIAPH3 (Varview), DIAPH3-AS2 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490251371 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      13:60147095 (GRCh38)
      13:60721229 (GRCh37)
      Canonical SPDI:
      NC_000013.11:60147094:G:C
      Gene:
      DIAPH3 (Varview), DIAPH3-AS2 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      HGVS:
      3.

      rs1490174899 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        13:60144067 (GRCh38)
        13:60718201 (GRCh37)
        Canonical SPDI:
        NC_000013.11:60144066:C:T
        Gene:
        DIAPH3 (Varview), DIAPH3-AS2 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000011/3 (TOPMED)
        T=0.000312/2 (1000Genomes)
        C=0.5/1 (SGDP_PRJ)
        HGVS:
        4.

        rs1490149045 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CTTTTTTTTTTT>- [Show Flanks]
          Chromosome:
          13:60142923 (GRCh38)
          13:60717057 (GRCh37)
          Canonical SPDI:
          NC_000013.11:60142912:TTTTTTTTTTCTTTTTTTTTTT:TTTTTTTTTT
          Gene:
          DIAPH3 (Varview), DIAPH3-AS2 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          TTTTTTTTTT=0.000084/1 (ALFA)
          -=0.000076/10 (GnomAD)
          HGVS:
          5.

          rs1490009536 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            13:60143479 (GRCh38)
            13:60717613 (GRCh37)
            Canonical SPDI:
            NC_000013.11:60143478:T:C
            Gene:
            DIAPH3 (Varview), DIAPH3-AS2 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs1489272301 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              13:60153429 (GRCh38)
              13:60727563 (GRCh37)
              Canonical SPDI:
              NC_000013.11:60153428:C:T
              Gene:
              DIAPH3 (Varview), DIAPH3-AS2 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489233348 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                13:60146191 (GRCh38)
                13:60720325 (GRCh37)
                Canonical SPDI:
                NC_000013.11:60146190:C:T
                Gene:
                DIAPH3 (Varview), DIAPH3-AS2 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1489213104 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  13:60145622 (GRCh38)
                  13:60719756 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:60145621:C:G,NC_000013.11:60145621:C:T
                  Gene:
                  DIAPH3 (Varview), DIAPH3-AS2 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000057/8 (GnomAD)
                  HGVS:
                  9.

                  rs1488204086 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    13:60150381 (GRCh38)
                    13:60724515 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:60150380:G:A
                    Gene:
                    DIAPH3 (Varview), DIAPH3-AS2 (Varview)
                    Functional Consequence:
                    intron_variant,genic_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:
                    10.

                    rs1488043559 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      13:60146225 (GRCh38)
                      13:60720359 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:60146224:G:A
                      Gene:
                      DIAPH3 (Varview), DIAPH3-AS2 (Varview)
                      Functional Consequence:
                      intron_variant,genic_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:
                      11.

                      rs1487235035 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        13:60143940 (GRCh38)
                        13:60718074 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:60143939:T:G
                        Gene:
                        DIAPH3 (Varview), DIAPH3-AS2 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000019/5 (TOPMED)
                        HGVS:
                        12.

                        rs1487087853 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          13:60145811 (GRCh38)
                          13:60719945 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:60145810:A:G,NC_000013.11:60145810:A:T
                          Gene:
                          DIAPH3 (Varview), DIAPH3-AS2 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_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:
                          13.

                          rs1487058099 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            13:60148692 (GRCh38)
                            13:60722826 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:60148691:A:C
                            Gene:
                            DIAPH3 (Varview), DIAPH3-AS2 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1486893047 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TAAGA>- [Show Flanks]
                              Chromosome:
                              13:60152619 (GRCh38)
                              13:60726753 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:60152614:AAGATAAGA:AAGA
                              Gene:
                              DIAPH3 (Varview), DIAPH3-AS2 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAGA=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1486759540 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                13:60149581 (GRCh38)
                                13:60723715 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:60149580:T:A
                                Gene:
                                DIAPH3 (Varview), DIAPH3-AS2 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1486102669 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  13:60147037 (GRCh38)
                                  13:60721171 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:60147036:C:G,NC_000013.11:60147036:C:T
                                  Gene:
                                  DIAPH3 (Varview), DIAPH3-AS2 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1486073468 [Homo sapiens]
                                    Variant type:
                                    SNV:
                                    Alleles:
                                    ACGCCAGCC>-
                                    Chromosome:
                                    no mapping
                                    Canonical SPDI:
                                    18.

                                    rs1485980520 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      13:60147959 (GRCh38)
                                      13:60722093 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:60147958:C:A
                                      Gene:
                                      DIAPH3 (Varview), DIAPH3-AS2 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1485617507 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        13:60147328 (GRCh38)
                                        13:60721462 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:60147327:G:A
                                        Gene:
                                        DIAPH3 (Varview), DIAPH3-AS2 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.002/9 (ALFA)
                                        A=0.0018/8 (Estonian)
                                        HGVS:
                                        20.

                                        rs1485361471 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          13:60153187 (GRCh38)
                                          13:60727321 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:60153186:G:A
                                          Gene:
                                          DIAPH3 (Varview), DIAPH3-AS2 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000011/3 (TOPMED)
                                          HGVS:

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