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Links from Gene

Items: 1 to 20 of 2010

1.

rs1491151084 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    X:88745466 (GRCh38)
    X:88000467 (GRCh37)
    Canonical SPDI:
    NC_000023.11:88745465:CA:
    Gene:
    CPXCR1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491097815 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CAAAA [Show Flanks]
      Chromosome:
      X:88745466 (GRCh38)
      X:88000468 (GRCh37)
      Canonical SPDI:
      NC_000023.11:88745466:AA:AACAAAA
      Gene:
      CPXCR1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      AACAAAA=0./0 (ALFA)
      AACAA=0.00002/1 (GnomAD)
      HGVS:
      3.

      rs1490644124 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        X:88746834 (GRCh38)
        X:88001835 (GRCh37)
        Canonical SPDI:
        NC_000023.11:88746833:G:C
        Gene:
        CPXCR1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000019/2 (GnomAD)
        C=0.00003/8 (TOPMED)
        HGVS:
        4.

        rs1490299288 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:88746126 (GRCh38)
          X:88001127 (GRCh37)
          Canonical SPDI:
          NC_000023.11:88746125:C:T
          Gene:
          CPXCR1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.00001/1 (GnomAD)
          HGVS:
          5.

          rs1490086729 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            X:88754725 (GRCh38)
            X:88009726 (GRCh37)
            Canonical SPDI:
            NC_000023.11:88754724:A:G
            Gene:
            CPXCR1 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000142/2 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000019/2 (GnomAD)
            G=0.00018/2 (TOMMO)
            HGVS:
            6.

            rs1490054286 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:88745640 (GRCh38)
              X:88000641 (GRCh37)
              Canonical SPDI:
              NC_000023.11:88745639:C:T
              Gene:
              CPXCR1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000029/3 (GnomAD)
              HGVS:
              7.

              rs1489943701 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                X:88749245 (GRCh38)
                X:88004246 (GRCh37)
                Canonical SPDI:
                NC_000023.11:88749244:C:A
                Gene:
                CPXCR1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.0002/1 (ALFA)
                HGVS:
                8.

                rs1489469664 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  X:88749127 (GRCh38)
                  X:88004128 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:88749126:A:T
                  Gene:
                  CPXCR1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1488894459 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    X:88749402 (GRCh38)
                    X:88004403 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:88749401:A:T
                    Gene:
                    CPXCR1 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1488775719 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,C [Show Flanks]
                      Chromosome:
                      X:88753049 (GRCh38)
                      X:88008050 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:88753048:T:A,NC_000023.11:88753048:T:C
                      Gene:
                      CPXCR1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1488663417 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        X:88754678 (GRCh38)
                        X:88009679 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:88754677:T:C
                        Gene:
                        CPXCR1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1488599313 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          X:88748664 (GRCh38)
                          X:88003665 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:88748663:T:C
                          Gene:
                          CPXCR1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.00001/1 (GnomAD)
                          HGVS:
                          13.

                          rs1488486116 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            X:88749860 (GRCh38)
                            X:88004861 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:88749859:A:G
                            Gene:
                            CPXCR1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            G=0.00001/1 (GnomAD)
                            HGVS:
                            14.

                            rs1488046206 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              X:88750989 (GRCh38)
                              X:88005990 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:88750988:G:A
                              Gene:
                              CPXCR1 (Varview)
                              Functional Consequence:
                              intron_variant
                              HGVS:
                              15.

                              rs1487996584 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                X:88747476 (GRCh38)
                                X:88002477 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:88747475:T:A
                                Gene:
                                CPXCR1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.00001/1 (GnomAD)
                                HGVS:
                                16.

                                rs1487946226 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  X:88747296 (GRCh38)
                                  X:88002297 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:88747295:C:G
                                  Gene:
                                  CPXCR1 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000023/6 (TOPMED)
                                  G=0.000029/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487833113 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    X:88748769 (GRCh38)
                                    X:88003770 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:88748768:T:C
                                    Gene:
                                    CPXCR1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000142/2 (ALFA)
                                    C=0.000029/3 (GnomAD)
                                    C=0.000042/11 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1486566393 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      X:88752248 (GRCh38)
                                      X:88007249 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:88752247:A:G
                                      Gene:
                                      CPXCR1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.00001/1 (GnomAD)
                                      G=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486514727 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        X:88750898 (GRCh38)
                                        X:88005899 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:88750897:T:G
                                        Gene:
                                        CPXCR1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486448240 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          X:88750405 (GRCh38)
                                          X:88005406 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:88750404:G:T
                                          Gene:
                                          CPXCR1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000019/2 (GnomAD)
                                          HGVS:

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