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Items: 1 to 20 of 4462

1.

rs1491537755 has merged into rs11305892 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,T,TTT [Show Flanks]
    Chromosome:
    3:39278586 (GRCh38)
    3:39320077 (GRCh37)
    Canonical SPDI:
    NC_000003.12:39278578:TTTTTTTTT:TTTTTTT,NC_000003.12:39278578:TTTTTTTTT:TTTTTTTT,NC_000003.12:39278578:TTTTTTTTT:TTTTTTTTTT
    Gene:
    CX3CR1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTT=0./0 (ALFA)
    T=0./0 (Korea1K)
    T=0.000318/5 (TOMMO)
    T=0.043333/26 (NorthernSweden)
    T=0.085415/428 (1000Genomes)
    T=0.125584/484 (ALSPAC)
    T=0.12676/33552 (TOPMED)
    T=0.127255/127 (GoNL)
    T=0.127562/473 (TWINSUK)
    T=0.2/8 (GENOME_DK)
    HGVS:
    2.

    rs1491362518 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      3:39275921 (GRCh38)
      3:39317412 (GRCh37)
      Canonical SPDI:
      NC_000003.12:39275918:CACA:CA
      Gene:
      CX3CR1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CACA=0./0 (ALFA)
      HGVS:
      3.

      rs1491191410 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GGCTCAATTTTTT [Show Flanks]
        Chromosome:
        3:39278579 (GRCh38)
        3:39320071 (GRCh37)
        Canonical SPDI:
        NC_000003.12:39278579:TTTTTT:TTTTTTGGCTCAATTTTTT
        Gene:
        CX3CR1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TTTTTTGGCTCAATTTTTT=0./0 (ALFA)
        TTTTTTGGCTCAA=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1491161298 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->A,AA [Show Flanks]
          Chromosome:
          3:39275919 (GRCh38)
          3:39317411 (GRCh37)
          Canonical SPDI:
          NC_000003.12:39275919:A:AA,NC_000003.12:39275919:A:AAA
          Gene:
          CX3CR1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          AA=0.00008/1 (ALFA)
          HGVS:
          5.

          rs1491109368 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->CTTT
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1490725718 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:39266505 (GRCh38)
              3:39307996 (GRCh37)
              Canonical SPDI:
              NC_000003.12:39266504:T:C
              Gene:
              CX3CR1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490658341 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                3:39273231 (GRCh38)
                3:39314722 (GRCh37)
                Canonical SPDI:
                NC_000003.12:39273230:G:T
                Gene:
                CX3CR1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000019/5 (TOPMED)
                T=0.000156/1 (1000Genomes)
                HGVS:
                8.

                rs1490337405 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C,T [Show Flanks]
                  Chromosome:
                  3:39263065 (GRCh38)
                  3:39304556 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:39263064:G:A,NC_000003.12:39263064:G:C,NC_000003.12:39263064:G:T
                  Gene:
                  CX3CR1 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.00011/2 (ALFA)
                  T=0.00004/1 (TOMMO)
                  A=0.00022/1 (Estonian)
                  HGVS:
                  9.

                  rs1490262085 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:39264712 (GRCh38)
                    3:39306203 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:39264711:G:A
                    Gene:
                    CX3CR1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000014/2 (GnomAD)
                    A=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1490237403 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:39266021 (GRCh38)
                      3:39307512 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:39266020:G:A
                      Gene:
                      CX3CR1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1490164462 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:39272760 (GRCh38)
                        3:39314251 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:39272759:G:A
                        Gene:
                        CX3CR1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000019/5 (TOPMED)
                        HGVS:
                        12.

                        rs1489534124 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          3:39271512 (GRCh38)
                          3:39313003 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:39271511:C:T
                          Gene:
                          CX3CR1 (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:
                          13.

                          rs1488958455 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            3:39266180 (GRCh38)
                            3:39307671 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:39266179:G:A
                            Gene:
                            CX3CR1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1488724286 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              3:39270931 (GRCh38)
                              3:39312422 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:39270930:T:C
                              Gene:
                              CX3CR1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1488407969 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                3:39263689 (GRCh38)
                                3:39305180 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:39263688:A:G
                                Gene:
                                CX3CR1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1488401035 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:39275122 (GRCh38)
                                  3:39316613 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:39275121:A:G
                                  Gene:
                                  CX3CR1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488355793 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    3:39279169 (GRCh38)
                                    3:39320660 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:39279168:A:G
                                    Gene:
                                    CX3CR1 (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:
                                    18.

                                    rs1488341306 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      3:39283632 (GRCh38)
                                      3:39325123 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:39283631:T:C
                                      Gene:
                                      CX3CR1 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000022/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488252286 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        3:39274289 (GRCh38)
                                        3:39315780 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:39274288:T:G
                                        Gene:
                                        CX3CR1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487762741 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          3:39267547 (GRCh38)
                                          3:39309038 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:39267546:G:T
                                          Gene:
                                          CX3CR1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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