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Items: 1 to 20 of 778

1.

rs1491267043 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    8:11035940 (GRCh38)
    8:10893451 (GRCh37)
    Canonical SPDI:
    NC_000008.11:11035940::C
    Gene:
    XKR6 (Varview), MIR598 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.00004/2 (GnomAD)
    HGVS:
    2.

    rs1491238096 has merged into rs58989028 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTT>-,T,TTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      8:11035948 (GRCh38)
      8:10893458 (GRCh37)
      Canonical SPDI:
      NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      XKR6 (Varview), MIR598 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000008.11:g.11035948_11035961del, NC_000008.11:g.11035949_11035961del, NC_000008.11:g.11035952_11035961del, NC_000008.11:g.11035955_11035961del, NC_000008.11:g.11035958_11035961del, NC_000008.11:g.11035959_11035961del, NC_000008.11:g.11035960_11035961del, NC_000008.11:g.11035961del, NC_000008.11:g.11035961dup, NC_000008.11:g.11035960_11035961dup, NC_000008.11:g.11035959_11035961dup, NC_000008.11:g.11035958_11035961dup, NC_000008.11:g.11035957_11035961dup, NC_000008.11:g.11035956_11035961dup, NC_000008.11:g.11035955_11035961dup, NC_000008.11:g.11035952_11035961dup, NC_000008.10:g.10893458_10893471del, NC_000008.10:g.10893459_10893471del, NC_000008.10:g.10893462_10893471del, NC_000008.10:g.10893465_10893471del, NC_000008.10:g.10893468_10893471del, NC_000008.10:g.10893469_10893471del, NC_000008.10:g.10893470_10893471del, NC_000008.10:g.10893471del, NC_000008.10:g.10893471dup, NC_000008.10:g.10893470_10893471dup, NC_000008.10:g.10893469_10893471dup, NC_000008.10:g.10893468_10893471dup, NC_000008.10:g.10893467_10893471dup, NC_000008.10:g.10893466_10893471dup, NC_000008.10:g.10893465_10893471dup, NC_000008.10:g.10893462_10893471dup, NW_018654717.1:g.2311055_2311068del, NW_018654717.1:g.2311056_2311068del, NW_018654717.1:g.2311059_2311068del, NW_018654717.1:g.2311062_2311068del, NW_018654717.1:g.2311065_2311068del, NW_018654717.1:g.2311066_2311068del, NW_018654717.1:g.2311067_2311068del, NW_018654717.1:g.2311068del, NW_018654717.1:g.2311068dup, NW_018654717.1:g.2311067_2311068dup, NW_018654717.1:g.2311066_2311068dup, NW_018654717.1:g.2311065_2311068dup, NW_018654717.1:g.2311064_2311068dup, NW_018654717.1:g.2311063_2311068dup, NW_018654717.1:g.2311062_2311068dup, NW_018654717.1:g.2311059_2311068dup
      3.

      rs1490906959 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        8:11036851 (GRCh38)
        8:10894361 (GRCh37)
        Canonical SPDI:
        NC_000008.11:11036850:T:C
        Gene:
        XKR6 (Varview), MIR598 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490487220 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ACTTAT>- [Show Flanks]
          Chromosome:
          8:11037053 (GRCh38)
          8:10894563 (GRCh37)
          Canonical SPDI:
          NC_000008.11:11037045:TACTTATACTTAT:TACTTAT
          Gene:
          XKR6 (Varview), MIR598 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          TACTTAT=0./0 (ALFA)
          -=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1489864184 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            8:11036761 (GRCh38)
            8:10894271 (GRCh37)
            Canonical SPDI:
            NC_000008.11:11036760:C:G
            Gene:
            XKR6 (Varview), MIR598 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,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:
            6.

            rs1489226028 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              8:11035348 (GRCh38)
              8:10892858 (GRCh37)
              Canonical SPDI:
              NC_000008.11:11035347:G:A
              Gene:
              XKR6 (Varview), MIR598 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000111/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1484963390 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                8:11034787 (GRCh38)
                8:10892297 (GRCh37)
                Canonical SPDI:
                NC_000008.11:11034786:G:A
                Gene:
                XKR6 (Varview), MIR598 (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1484306580 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  8:11035409 (GRCh38)
                  8:10892919 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:11035408:A:C
                  Gene:
                  XKR6 (Varview), MIR598 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1483387116 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C,G [Show Flanks]
                    Chromosome:
                    8:11035325 (GRCh38)
                    8:10892835 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:11035324:T:C,NC_000008.11:11035324:T:G
                    Gene:
                    XKR6 (Varview), MIR598 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    G=0.000546/1 (Korea1K)
                    HGVS:
                    10.

                    rs1481558123 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      8:11036405 (GRCh38)
                      8:10893915 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:11036404:A:T
                      Gene:
                      XKR6 (Varview), MIR598 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.001638/3 (Korea1K)
                      T=0.001711/5 (KOREAN)
                      HGVS:
                      11.

                      rs1481035585 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        8:11036097 (GRCh38)
                        8:10893607 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:11036096:C:G
                        Gene:
                        XKR6 (Varview), MIR598 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,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:
                        12.

                        rs1480579974 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          8:11036450 (GRCh38)
                          8:10893960 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:11036449:G:C
                          Gene:
                          XKR6 (Varview), MIR598 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000019/5 (TOPMED)
                          C=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1479922974 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            8:11037083 (GRCh38)
                            8:10894593 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:11037082:G:A
                            Gene:
                            XKR6 (Varview), MIR598 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1479753412 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              8:11036974 (GRCh38)
                              8:10894484 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:11036973:C:A,NC_000008.11:11036973:C:T
                              Gene:
                              XKR6 (Varview), MIR598 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1479595241 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                8:11036836 (GRCh38)
                                8:10894346 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:11036835:G:A
                                Gene:
                                XKR6 (Varview), MIR598 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1475581097 has merged into rs58989028 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTTTTTTTTTTT>-,T,TTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  8:11035948 (GRCh38)
                                  8:10893458 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:11035939:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  XKR6 (Varview), MIR598 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTT=0./0 (ALFA)
                                  HGVS:
                                  NC_000008.11:g.11035948_11035961del, NC_000008.11:g.11035949_11035961del, NC_000008.11:g.11035952_11035961del, NC_000008.11:g.11035955_11035961del, NC_000008.11:g.11035958_11035961del, NC_000008.11:g.11035959_11035961del, NC_000008.11:g.11035960_11035961del, NC_000008.11:g.11035961del, NC_000008.11:g.11035961dup, NC_000008.11:g.11035960_11035961dup, NC_000008.11:g.11035959_11035961dup, NC_000008.11:g.11035958_11035961dup, NC_000008.11:g.11035957_11035961dup, NC_000008.11:g.11035956_11035961dup, NC_000008.11:g.11035955_11035961dup, NC_000008.11:g.11035952_11035961dup, NC_000008.10:g.10893458_10893471del, NC_000008.10:g.10893459_10893471del, NC_000008.10:g.10893462_10893471del, NC_000008.10:g.10893465_10893471del, NC_000008.10:g.10893468_10893471del, NC_000008.10:g.10893469_10893471del, NC_000008.10:g.10893470_10893471del, NC_000008.10:g.10893471del, NC_000008.10:g.10893471dup, NC_000008.10:g.10893470_10893471dup, NC_000008.10:g.10893469_10893471dup, NC_000008.10:g.10893468_10893471dup, NC_000008.10:g.10893467_10893471dup, NC_000008.10:g.10893466_10893471dup, NC_000008.10:g.10893465_10893471dup, NC_000008.10:g.10893462_10893471dup, NW_018654717.1:g.2311055_2311068del, NW_018654717.1:g.2311056_2311068del, NW_018654717.1:g.2311059_2311068del, NW_018654717.1:g.2311062_2311068del, NW_018654717.1:g.2311065_2311068del, NW_018654717.1:g.2311066_2311068del, NW_018654717.1:g.2311067_2311068del, NW_018654717.1:g.2311068del, NW_018654717.1:g.2311068dup, NW_018654717.1:g.2311067_2311068dup, NW_018654717.1:g.2311066_2311068dup, NW_018654717.1:g.2311065_2311068dup, NW_018654717.1:g.2311064_2311068dup, NW_018654717.1:g.2311063_2311068dup, NW_018654717.1:g.2311062_2311068dup, NW_018654717.1:g.2311059_2311068dup
                                  17.

                                  rs1474785050 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    8:11035185 (GRCh38)
                                    8:10892695 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:11035184:G:A,NC_000008.11:11035184:G:T
                                    Gene:
                                    XKR6 (Varview), MIR598 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1473804539 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      8:11035052 (GRCh38)
                                      8:10892562 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:11035051:A:G
                                      Gene:
                                      XKR6 (Varview), MIR598 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000014/2 (GnomAD)
                                      G=0.000026/7 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1472397323 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        8:11036066 (GRCh38)
                                        8:10893576 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:11036065:C:T
                                        Gene:
                                        XKR6 (Varview), MIR598 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1471150208 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          T>- [Show Flanks]
                                          Chromosome:
                                          8:11036535 (GRCh38)
                                          8:10894045 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:11036534:T:
                                          Gene:
                                          XKR6 (Varview), MIR598 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0.000895/4 (ALFA)
                                          -=0.000021/3 (GnomAD)
                                          -=0.000893/4 (Estonian)
                                          HGVS:

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