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Links from Gene

Items: 1 to 20 of 7395

1.

rs1491566309 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->T,TGTGTGTGT,TGTGTGTGTGTGT [Show Flanks]
    Chromosome:
    20:31990214 (GRCh38)
    20:30578018 (GRCh37)
    Canonical SPDI:
    NC_000020.11:31990214::T,NC_000020.11:31990214::TGTGTGTGT,NC_000020.11:31990214::TGTGTGTGTGTGT
    Gene:
    XKR7 (Varview)
    Functional Consequence:
    intron_variant
    HGVS:
    2.

    rs1491236886 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GG>- [Show Flanks]
      Chromosome:
      20:31990214 (GRCh38)
      20:30578017 (GRCh37)
      Canonical SPDI:
      NC_000020.11:31990213:GG:
      Gene:
      XKR7 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.000169/2 (ALFA)
      -=0.000051/7 (GnomAD)
      HGVS:
      3.

      rs1491048578 has merged into rs34871534 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
        Chromosome:
        20:31979148 (GRCh38)
        20:30566951 (GRCh37)
        Canonical SPDI:
        NC_000020.11:31979134:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:31979134:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:31979134:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:31979134:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:31979134:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
        Gene:
        XKR7 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
        -=0.3514/1760 (1000Genomes)
        -=0.3951/226 (NorthernSweden)
        -=0.4019/1549 (ALSPAC)
        -=0.4088/1516 (TWINSUK)
        A=0.5/20 (GENOME_DK)
        HGVS:
        4.

        rs1490943393 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          20:31981181 (GRCh38)
          20:30568984 (GRCh37)
          Canonical SPDI:
          NC_000020.11:31981180:A:T
          Gene:
          XKR7 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490626189 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            20:31967926 (GRCh38)
            20:30555729 (GRCh37)
            Canonical SPDI:
            NC_000020.11:31967925:G:A
            Gene:
            XKR7 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.00005/7 (GnomAD)
            A=0.000057/15 (TOPMED)
            A=0.000156/1 (1000Genomes)
            A=0.00092/15 (TOMMO)
            A=0.001107/2 (Korea1K)
            A=0.002755/8 (KOREAN)
            HGVS:
            6.

            rs1490509309 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ACTACCAAGCAGACCCAGCATCCAAGACACAGACAGACAG>-,ACTACCAAGCAGACCCAGCATCCAAGACACAGACAGACAGACTACCAAGCAGACCCAGCATCCAAGACACAGACAGACAG [Show Flanks]
              Chromosome:
              20:31985710 (GRCh38)
              20:30573513 (GRCh37)
              Canonical SPDI:
              NC_000020.11:31985680:GACCCAGCATCCAAGACACAGACAGACAGACTACCAAGCAGACCCAGCATCCAAGACACAGACAGACAG:GACCCAGCATCCAAGACACAGACAGACAG,NC_000020.11:31985680:GACCCAGCATCCAAGACACAGACAGACAGACTACCAAGCAGACCCAGCATCCAAGACACAGACAGACAG:GACCCAGCATCCAAGACACAGACAGACAGACTACCAAGCAGACCCAGCATCCAAGACACAGACAGACAGACTACCAAGCAGACCCAGCATCCAAGACACAGACAGACAG
              Gene:
              XKR7 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by cluster
              HGVS:
              7.

              rs1490498113 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                20:31995547 (GRCh38)
                20:30583350 (GRCh37)
                Canonical SPDI:
                NC_000020.11:31995546:C:A
                Gene:
                XKR7 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000038/10 (TOPMED)
                HGVS:
                8.

                rs1490443128 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  20:31987307 (GRCh38)
                  20:30575110 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:31987306:G:A
                  Gene:
                  XKR7 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490441663 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    20:31994448 (GRCh38)
                    20:30582251 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:31994447:C:T
                    Gene:
                    XKR7 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490429301 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      20:31979687 (GRCh38)
                      20:30567490 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:31979686:G:T
                      Gene:
                      XKR7 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490361915 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G,T [Show Flanks]
                        Chromosome:
                        20:31979766 (GRCh38)
                        20:30567569 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:31979765:C:A,NC_000020.11:31979765:C:G,NC_000020.11:31979765:C:T
                        Gene:
                        XKR7 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        A=0./0 (GnomAD)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490325019 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          20:31973911 (GRCh38)
                          20:30561714 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:31973910:G:A
                          Gene:
                          XKR7 (Varview)
                          Functional Consequence:
                          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:
                          13.

                          rs1490317299 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->G [Show Flanks]
                            Chromosome:
                            20:31988128 (GRCh38)
                            20:30575932 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:31988128:GG:GGG
                            Gene:
                            XKR7 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            GGG=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490311395 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              20:31995173 (GRCh38)
                              20:30582976 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:31995172:G:A
                              Gene:
                              XKR7 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              HGVS:
                              15.

                              rs1490100652 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                20:31980515 (GRCh38)
                                20:30568318 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:31980514:G:A
                                Gene:
                                XKR7 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1489879217 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  20:31988685 (GRCh38)
                                  20:30576488 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:31988684:A:G
                                  Gene:
                                  XKR7 (Varview)
                                  Functional Consequence:
                                  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:
                                  17.

                                  rs1489809680 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    20:31996596 (GRCh38)
                                    20:30584399 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:31996595:G:A
                                    Gene:
                                    XKR7 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489765853 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      C>- [Show Flanks]
                                      Chromosome:
                                      20:31972228 (GRCh38)
                                      20:30560031 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:31972227:CCC:CC
                                      Gene:
                                      XKR7 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CC=0./0 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489562912 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        20:31985762 (GRCh38)
                                        20:30573565 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:31985761:G:A
                                        Gene:
                                        XKR7 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000009/1 (GnomAD)
                                        A=0.000248/7 (TOMMO)
                                        A=0.000781/5 (1000Genomes)
                                        A=0.001092/2 (Korea1K)
                                        HGVS:
                                        20.

                                        rs1489515633 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          20:31970611 (GRCh38)
                                          20:30558414 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:31970610:G:A,NC_000020.11:31970610:G:T
                                          Gene:
                                          XKR7 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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