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Items: 1 to 20 of 382

2.
3.

rs1490253347 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    8:11201286 (GRCh38)
    8:11058795 (GRCh37)
    Canonical SPDI:
    NC_000008.11:11201285:G:A
    Gene:
    XKR6 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    4.

    rs1489365465 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      8:11200776 (GRCh38)
      8:11058285 (GRCh37)
      Canonical SPDI:
      NC_000008.11:11200775:G:A,NC_000008.11:11200775:G:C
      Gene:
      XKR6 (Varview)
      Functional Consequence:
      stop_gained,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000047/1 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000008.11:g.11200776G>A, NC_000008.11:g.11200776G>C, NC_000008.10:g.11058285G>A, NC_000008.10:g.11058285G>C, NW_018654717.1:g.2146147C>T, NW_018654717.1:g.2146147C>G, NM_173683.4:c.564C>T, NM_173683.4:c.564C>G, NM_173683.3:c.564C>T, NM_173683.3:c.564C>G, XR_948899.4:n.1058C>T, XR_948899.4:n.1058C>G, XR_948899.3:n.634C>T, XR_948899.3:n.634C>G, XR_948899.2:n.634C>T, XR_948899.2:n.634C>G, XR_948899.1:n.606C>T, XR_948899.1:n.606C>G, XM_011543821.3:c.564C>T, XM_011543821.3:c.564C>G, XM_011543821.2:c.564C>T, XM_011543821.2:c.564C>G, XM_011543821.1:c.564C>T, XM_011543821.1:c.564C>G, XM_024447129.2:c.564C>T, XM_024447129.2:c.564C>G, XM_024447129.1:c.564C>T, XM_024447129.1:c.564C>G, NR_138152.2:n.1058C>T, NR_138152.2:n.1058C>G, NR_138152.1:n.591C>T, NR_138152.1:n.591C>G, NR_138154.2:n.1058C>T, NR_138154.2:n.1058C>G, NR_138154.1:n.591C>T, NR_138154.1:n.591C>G, NR_138153.2:n.1058C>T, NR_138153.2:n.1058C>G, NR_138153.1:n.591C>T, NR_138153.1:n.591C>G, NM_001012239.1:c.564C>T, NM_001012239.1:c.564C>G, NP_775954.2:p.Tyr188Ter, XP_011542123.1:p.Tyr188Ter, XP_024302897.1:p.Tyr188Ter
      5.

      rs1486063192 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        8:11201045 (GRCh38)
        8:11058554 (GRCh37)
        Canonical SPDI:
        NC_000008.11:11201044:C:G,NC_000008.11:11201044:C:T
        Gene:
        XKR6 (Varview)
        Functional Consequence:
        missense_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        HGVS:
        NC_000008.11:g.11201045C>G, NC_000008.11:g.11201045C>T, NC_000008.10:g.11058554C>G, NC_000008.10:g.11058554C>T, NW_018654717.1:g.2145879G>C, NW_018654717.1:g.2145879G>A, NM_173683.4:c.295G>C, NM_173683.4:c.295G>A, NM_173683.3:c.295G>C, NM_173683.3:c.295G>A, XR_948899.4:n.789G>C, XR_948899.4:n.789G>A, XR_948899.3:n.365G>C, XR_948899.3:n.365G>A, XR_948899.2:n.365G>C, XR_948899.2:n.365G>A, XR_948899.1:n.337G>C, XR_948899.1:n.337G>A, XM_011543821.3:c.295G>C, XM_011543821.3:c.295G>A, XM_011543821.2:c.295G>C, XM_011543821.2:c.295G>A, XM_011543821.1:c.295G>C, XM_011543821.1:c.295G>A, XM_024447129.2:c.295G>C, XM_024447129.2:c.295G>A, XM_024447129.1:c.295G>C, XM_024447129.1:c.295G>A, NR_138152.2:n.789G>C, NR_138152.2:n.789G>A, NR_138152.1:n.322G>C, NR_138152.1:n.322G>A, NR_138154.2:n.789G>C, NR_138154.2:n.789G>A, NR_138154.1:n.322G>C, NR_138154.1:n.322G>A, NR_138153.2:n.789G>C, NR_138153.2:n.789G>A, NR_138153.1:n.322G>C, NR_138153.1:n.322G>A, NM_001012239.1:c.295G>C, NM_001012239.1:c.295G>A, NP_775954.2:p.Ala99Pro, NP_775954.2:p.Ala99Thr, XP_011542123.1:p.Ala99Pro, XP_011542123.1:p.Ala99Thr, XP_024302897.1:p.Ala99Pro, XP_024302897.1:p.Ala99Thr
        6.

        rs1481719532 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          8:11201172 (GRCh38)
          8:11058681 (GRCh37)
          Canonical SPDI:
          NC_000008.11:11201171:G:A,NC_000008.11:11201171:G:C
          Gene:
          XKR6 (Varview)
          Functional Consequence:
          missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000008.11:g.11201172G>A, NC_000008.11:g.11201172G>C, NC_000008.10:g.11058681G>A, NC_000008.10:g.11058681G>C, NW_018654717.1:g.2145752C>T, NW_018654717.1:g.2145752C>G, NM_173683.4:c.168C>T, NM_173683.4:c.168C>G, NM_173683.3:c.168C>T, NM_173683.3:c.168C>G, XR_948899.4:n.662C>T, XR_948899.4:n.662C>G, XR_948899.3:n.238C>T, XR_948899.3:n.238C>G, XR_948899.2:n.238C>T, XR_948899.2:n.238C>G, XR_948899.1:n.210C>T, XR_948899.1:n.210C>G, XM_011543821.3:c.168C>T, XM_011543821.3:c.168C>G, XM_011543821.2:c.168C>T, XM_011543821.2:c.168C>G, XM_011543821.1:c.168C>T, XM_011543821.1:c.168C>G, XM_024447129.2:c.168C>T, XM_024447129.2:c.168C>G, XM_024447129.1:c.168C>T, XM_024447129.1:c.168C>G, NR_138152.2:n.662C>T, NR_138152.2:n.662C>G, NR_138152.1:n.195C>T, NR_138152.1:n.195C>G, NR_138154.2:n.662C>T, NR_138154.2:n.662C>G, NR_138154.1:n.195C>T, NR_138154.1:n.195C>G, NR_138153.2:n.662C>T, NR_138153.2:n.662C>G, NR_138153.1:n.195C>T, NR_138153.1:n.195C>G, NM_001012239.1:c.168C>T, NM_001012239.1:c.168C>G, NP_775954.2:p.Ile56Met, XP_011542123.1:p.Ile56Met, XP_024302897.1:p.Ile56Met
          7.
          9.
          10.

          rs1477236068 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            8:11195196 (GRCh38)
            8:11052705 (GRCh37)
            Canonical SPDI:
            NC_000008.11:11195195:T:C
            Gene:
            XKR6 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000011/3 (TOPMED)
            C=0.000022/3 (GnomAD_exomes)
            HGVS:
            11.
            12.

            rs1472691580 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G,T [Show Flanks]
              Chromosome:
              8:11200785 (GRCh38)
              8:11058294 (GRCh37)
              Canonical SPDI:
              NC_000008.11:11200784:C:A,NC_000008.11:11200784:C:G,NC_000008.11:11200784:C:T
              Gene:
              XKR6 (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0./0 (GnomAD)
              A=0.000071/1 (TOMMO)
              HGVS:
              NC_000008.11:g.11200785C>A, NC_000008.11:g.11200785C>G, NC_000008.11:g.11200785C>T, NC_000008.10:g.11058294C>A, NC_000008.10:g.11058294C>G, NC_000008.10:g.11058294C>T, NW_018654717.1:g.2146138G>T, NW_018654717.1:g.2146138G>C, NW_018654717.1:g.2146138G>A, NM_173683.4:c.555G>T, NM_173683.4:c.555G>C, NM_173683.4:c.555G>A, NM_173683.3:c.555G>T, NM_173683.3:c.555G>C, NM_173683.3:c.555G>A, XR_948899.4:n.1049G>T, XR_948899.4:n.1049G>C, XR_948899.4:n.1049G>A, XR_948899.3:n.625G>T, XR_948899.3:n.625G>C, XR_948899.3:n.625G>A, XR_948899.2:n.625G>T, XR_948899.2:n.625G>C, XR_948899.2:n.625G>A, XR_948899.1:n.597G>T, XR_948899.1:n.597G>C, XR_948899.1:n.597G>A, XM_011543821.3:c.555G>T, XM_011543821.3:c.555G>C, XM_011543821.3:c.555G>A, XM_011543821.2:c.555G>T, XM_011543821.2:c.555G>C, XM_011543821.2:c.555G>A, XM_011543821.1:c.555G>T, XM_011543821.1:c.555G>C, XM_011543821.1:c.555G>A, XM_024447129.2:c.555G>T, XM_024447129.2:c.555G>C, XM_024447129.2:c.555G>A, XM_024447129.1:c.555G>T, XM_024447129.1:c.555G>C, XM_024447129.1:c.555G>A, NR_138152.2:n.1049G>T, NR_138152.2:n.1049G>C, NR_138152.2:n.1049G>A, NR_138152.1:n.582G>T, NR_138152.1:n.582G>C, NR_138152.1:n.582G>A, NR_138154.2:n.1049G>T, NR_138154.2:n.1049G>C, NR_138154.2:n.1049G>A, NR_138154.1:n.582G>T, NR_138154.1:n.582G>C, NR_138154.1:n.582G>A, NR_138153.2:n.1049G>T, NR_138153.2:n.1049G>C, NR_138153.2:n.1049G>A, NR_138153.1:n.582G>T, NR_138153.1:n.582G>C, NR_138153.1:n.582G>A, NM_001012239.1:c.555G>T, NM_001012239.1:c.555G>C, NM_001012239.1:c.555G>A
              13.

              rs1471308538 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                8:11200906 (GRCh38)
                8:11058415 (GRCh37)
                Canonical SPDI:
                NC_000008.11:11200905:G:A,NC_000008.11:11200905:G:C
                Gene:
                XKR6 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                HGVS:
                NC_000008.11:g.11200906G>A, NC_000008.11:g.11200906G>C, NC_000008.10:g.11058415G>A, NC_000008.10:g.11058415G>C, NW_018654717.1:g.2146017C>T, NW_018654717.1:g.2146017C>G, NM_173683.4:c.434C>T, NM_173683.4:c.434C>G, NM_173683.3:c.434C>T, NM_173683.3:c.434C>G, XR_948899.4:n.928C>T, XR_948899.4:n.928C>G, XR_948899.3:n.504C>T, XR_948899.3:n.504C>G, XR_948899.2:n.504C>T, XR_948899.2:n.504C>G, XR_948899.1:n.476C>T, XR_948899.1:n.476C>G, XM_011543821.3:c.434C>T, XM_011543821.3:c.434C>G, XM_011543821.2:c.434C>T, XM_011543821.2:c.434C>G, XM_011543821.1:c.434C>T, XM_011543821.1:c.434C>G, XM_024447129.2:c.434C>T, XM_024447129.2:c.434C>G, XM_024447129.1:c.434C>T, XM_024447129.1:c.434C>G, NR_138152.2:n.928C>T, NR_138152.2:n.928C>G, NR_138152.1:n.461C>T, NR_138152.1:n.461C>G, NR_138154.2:n.928C>T, NR_138154.2:n.928C>G, NR_138154.1:n.461C>T, NR_138154.1:n.461C>G, NR_138153.2:n.928C>T, NR_138153.2:n.928C>G, NR_138153.1:n.461C>T, NR_138153.1:n.461C>G, NM_001012239.1:c.434C>T, NM_001012239.1:c.434C>G, NP_775954.2:p.Thr145Ile, NP_775954.2:p.Thr145Ser, XP_011542123.1:p.Thr145Ile, XP_011542123.1:p.Thr145Ser, XP_024302897.1:p.Thr145Ile, XP_024302897.1:p.Thr145Ser
                14.

                rs1470102797 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  8:11195173 (GRCh38)
                  8:11052682 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:11195172:G:T
                  Gene:
                  XKR6 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  17.

                  rs1464429406 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    8:11200992 (GRCh38)
                    8:11058501 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:11200991:C:T
                    Gene:
                    XKR6 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000015/2 (GnomAD)
                    HGVS:
                    18.
                    19.

                    rs1460959471 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      8:11200693 (GRCh38)
                      8:11058202 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:11200692:G:T
                      Gene:
                      XKR6 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000162/3 (ALFA)
                      T=0.000008/2 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      T=0.000223/1 (Estonian)
                      HGVS:
                      20.

                      rs1460914655 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        8:11201265 (GRCh38)
                        8:11058774 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:11201264:G:A
                        Gene:
                        XKR6 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000011/3 (TOPMED)
                        HGVS:

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