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Links from Gene

Items: 1 to 20 of 1752

1.

rs1491150798 has merged into rs201733165 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CTCT>-,CT,CTCTCT [Show Flanks]
    Chromosome:
    8:55157859 (GRCh38)
    8:56070419 (GRCh37)
    Canonical SPDI:
    NC_000008.11:55157851:TCTCTCTCTCT:TCTCTCT,NC_000008.11:55157851:TCTCTCTCTCT:TCTCTCTCT,NC_000008.11:55157851:TCTCTCTCTCT:TCTCTCTCTCTCT
    Gene:
    XKR4 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TCTCTCTCTCTCT=0./0 (ALFA)
    -=0.00078/3 (ALSPAC)
    -=0.00081/3 (TWINSUK)
    -=0.00804/36 (Estonian)
    -=0.01333/8 (NorthernSweden)
    -=0.05606/281 (1000Genomes)
    -=0.10178/1706 (TOMMO)
    HGVS:
    2.

    rs1488844751 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      8:55159588 (GRCh38)
      8:56072148 (GRCh37)
      Canonical SPDI:
      NC_000008.11:55159587:G:T
      Gene:
      XKR4 (Varview), LOC105375844 (Varview)
      Functional Consequence:
      2KB_upstream_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1487511075 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        8:55157926 (GRCh38)
        8:56070486 (GRCh37)
        Canonical SPDI:
        NC_000008.11:55157925:A:T
        Gene:
        XKR4 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000029/4 (GnomAD)
        HGVS:
        4.

        rs1487426856 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          8:55164111 (GRCh38)
          8:56076671 (GRCh37)
          Canonical SPDI:
          NC_000008.11:55164110:T:C
          Gene:
          XKR4 (Varview), LOC105375844 (Varview)
          Functional Consequence:
          intron_variant
          HGVS:
          5.

          rs1487346634 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            8:55163853 (GRCh38)
            8:56076413 (GRCh37)
            Canonical SPDI:
            NC_000008.11:55163852:A:T
            Gene:
            XKR4 (Varview), LOC105375844 (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:
            6.

            rs1487004957 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              8:55164086 (GRCh38)
              8:56076646 (GRCh37)
              Canonical SPDI:
              NC_000008.11:55164085:A:G
              Gene:
              XKR4 (Varview), LOC105375844 (Varview)
              Functional Consequence:
              intron_variant
              HGVS:
              7.

              rs1486597299 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                8:55161174 (GRCh38)
                8:56073734 (GRCh37)
                Canonical SPDI:
                NC_000008.11:55161173:A:G
                Gene:
                XKR4 (Varview), LOC105375844 (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000019/5 (TOPMED)
                G=0.000029/4 (GnomAD)
                HGVS:
                8.

                rs1486470221 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  8:55160642 (GRCh38)
                  8:56073202 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:55160641:T:C
                  Gene:
                  XKR4 (Varview), LOC105375844 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1486374110 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    8:55163502 (GRCh38)
                    8:56076062 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:55163501:G:A
                    Gene:
                    XKR4 (Varview), LOC105375844 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000011/3 (TOPMED)
                    A=0.000036/5 (GnomAD)
                    HGVS:
                    10.

                    rs1486266142 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      8:55157376 (GRCh38)
                      8:56069936 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:55157375:A:T
                      Gene:
                      XKR4 (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:
                      11.

                      rs1486024433 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C,T [Show Flanks]
                        Chromosome:
                        8:55164487 (GRCh38)
                        8:56077047 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:55164486:G:A,NC_000008.11:55164486:G:C,NC_000008.11:55164486:G:T
                        Gene:
                        XKR4 (Varview), LOC105375844 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        A=0.000008/1 (GnomAD_exomes)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1486012976 [Homo sapiens]
                          Variant type:
                          SNV:
                          Alleles:
                          G>T
                          Chromosome:
                          no mapping
                          Canonical SPDI:
                          13.

                          rs1485287226 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            8:55162103 (GRCh38)
                            8:56074663 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:55162102:C:A
                            Gene:
                            XKR4 (Varview), LOC105375844 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1484901394 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              8:55162122 (GRCh38)
                              8:56074682 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:55162121:A:G
                              Gene:
                              XKR4 (Varview), LOC105375844 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1484152927 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                8:55158635 (GRCh38)
                                8:56071195 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:55158634:A:G
                                Gene:
                                XKR4 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1483353202 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  8:55162946 (GRCh38)
                                  8:56075506 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:55162945:A:G
                                  Gene:
                                  XKR4 (Varview), LOC105375844 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  G=0.000038/10 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1483046215 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    8:55163367 (GRCh38)
                                    8:56075927 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:55163366:A:T
                                    Gene:
                                    XKR4 (Varview), LOC105375844 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1483040885 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      8:55164144 (GRCh38)
                                      8:56076704 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:55164143:G:A
                                      Gene:
                                      XKR4 (Varview), LOC105375844 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1483025712 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        8:55164332 (GRCh38)
                                        8:56076892 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:55164331:A:C
                                        Gene:
                                        XKR4 (Varview), LOC105375844 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        HGVS:
                                        20.

                                        rs1482931630 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          8:55163049 (GRCh38)
                                          8:56075609 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:55163048:T:C
                                          Gene:
                                          XKR4 (Varview), LOC105375844 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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