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Items: 1 to 20 of 1387

1.

rs1491477577 has merged into rs746326926 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCCCC [Show Flanks]
    Chromosome:
    X:7842988 (GRCh38)
    X:7811029 (GRCh37)
    Canonical SPDI:
    NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000023.11:7842979:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC
    Gene:
    VCX (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCCCCCCC=0.00057/6 (ALFA)
    -=0.20588/7 (GENOME_DK)
    HGVS:
    2.

    rs1491474542 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GA>- [Show Flanks]
      Chromosome:
      X:7841303 (GRCh38)
      X:7809344 (GRCh37)
      Canonical SPDI:
      NC_000023.11:7841302:GA:
      Gene:
      VCX (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00008/1 (ALFA)
      -=0.00006/5 (GnomAD)
      HGVS:
      3.

      rs1491089952 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->AC,GC [Show Flanks]
        Chromosome:
        X:7842980 (GRCh38)
        X:7811022 (GRCh37)
        Canonical SPDI:
        NC_000023.11:7842980:C:CAC,NC_000023.11:7842980:C:CGC
        Gene:
        VCX (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CGC=0./0 (ALFA)
        CG=0.03698/390 (TOMMO)
        HGVS:
        4.

        rs1491008997 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->TCACACACACACACACACACACACACACAC [Show Flanks]
          Chromosome:
          X:7842085 (GRCh38)
          X:7810127 (GRCh37)
          Canonical SPDI:
          NC_000023.11:7842085:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACTCACACACACACACACACACACACACACAC
          Gene:
          VCX (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          HGVS:
          5.

          rs1490123253 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            X:7842589 (GRCh38)
            X:7810630 (GRCh37)
            Canonical SPDI:
            NC_000023.11:7842588:T:G
            Gene:
            VCX (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            G=0.000029/3 (GnomAD)
            ...more
            HGVS:
            7.
            8.

            rs1489814229 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAG>- [Show Flanks]
              Chromosome:
              X:7844556 (GRCh38)
              X:7812597 (GRCh37)
              Canonical SPDI:
              NC_000023.11:7844553:AGAAAG:AG
              Gene:
              VCX (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              AG=0.00008/1 (ALFA)
              HGVS:
              9.

              rs1489783566 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                X:7840836 (GRCh38)
                X:7808877 (GRCh37)
                Canonical SPDI:
                NC_000023.11:7840835:A:G
                Gene:
                VCX (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.00001/1 (GnomAD)
                G=0.00003/8 (TOPMED)
                ...more
                HGVS:
                10.

                rs1488785945 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  X:7841280 (GRCh38)
                  X:7809321 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:7841279:A:G
                  Gene:
                  VCX (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000023/6 (TOPMED)
                  G=0.000041/4 (GnomAD)
                  ...more
                  HGVS:
                  11.

                  rs1488107495 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    X:7841357 (GRCh38)
                    X:7809398 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:7841356:A:G
                    Gene:
                    VCX (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000019/2 (GnomAD)
                    ...more
                    HGVS:
                    12.

                    rs1487733665 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      X:7844581 (GRCh38)
                      X:7812622 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:7844580:G:C
                      Gene:
                      VCX (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000015/4 (TOPMED)
                      HGVS:
                      14.

                      rs1486231815 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAGGAAAGAAGGAAGGAACAAGTGGTATGTGGGGAGGGAG>- [Show Flanks]
                        Chromosome:
                        X:7844556 (GRCh38)
                        X:7812597 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:7844542:TGTGGGGAGGGAGAAAGGAAAGAAGGAAGGAACAAGTGGTATGTGGGGAGGGAG:TGTGGGGAGGGAG
                        Gene:
                        VCX (Varview)
                        Functional Consequence:
                        500B_downstream_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TGTGGGGAGGGAG=0./0 (ALFA)
                        -=0.00169/20 (TOMMO)
                        HGVS:
                        15.

                        rs1485870371 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          X:7843148 (GRCh38)
                          X:7811189 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:7843147:G:A,NC_000023.11:7843147:G:C
                          Gene:
                          VCX (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.000011/1 (GnomAD)
                          ...more
                          HGVS:
                          16.

                          rs1485585439 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:7844634 (GRCh38)
                            X:7812675 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:7844633:G:A
                            Gene:
                            VCX (Varview)
                            Functional Consequence:
                            500B_downstream_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000285/4 (ALFA)
                            A=0.000344/91 (TOPMED)
                            A=0.000364/35 (GnomAD)
                            ...more
                            HGVS:
                            17.

                            rs1484644979 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              X:7843662 (GRCh38)
                              X:7811703 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:7843661:G:A
                              Gene:
                              VCX (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              HGVS:
                              18.

                              rs1484091235 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                X:7841850 (GRCh38)
                                X:7809891 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:7841849:T:A
                                Gene:
                                VCX (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.00001/1 (GnomAD)
                                ...more
                                HGVS:
                                19.

                                rs1483900676 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  X:7842752 (GRCh38)
                                  X:7810793 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:7842751:C:G
                                  Gene:
                                  VCX (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  20.

                                  rs1483705429 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AG>- [Show Flanks]
                                    Chromosome:
                                    X:7842405 (GRCh38)
                                    X:7810446 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:7842403:GAG:G
                                    Gene:
                                    VCX (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.00025/3 (ALFA)
                                    -=0.00145/32 (TOMMO)
                                    HGVS:

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