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Items: 1 to 20 of 476

1.

rs1487436702 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    X:95063470 (GRCh38)
    X:94318469 (GRCh37)
    Canonical SPDI:
    NC_000023.11:95063469:C:T
    Gene:
    MIR548M (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1487299156 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,T [Show Flanks]
      Chromosome:
      X:95063836 (GRCh38)
      X:94318835 (GRCh37)
      Canonical SPDI:
      NC_000023.11:95063835:A:C,NC_000023.11:95063835:A:T
      Gene:
      MIR548M (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      T=0.00001/1 (GnomAD)
      HGVS:
      3.

      rs1485963802 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        X:95064420 (GRCh38)
        X:94319419 (GRCh37)
        Canonical SPDI:
        NC_000023.11:95064419:A:G
        Gene:
        MIR548M (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=0.00001/1 (GnomAD)
        HGVS:
        4.

        rs1485953774 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          X:95064303 (GRCh38)
          X:94319302 (GRCh37)
          Canonical SPDI:
          NC_000023.11:95064302:T:A
          Gene:
          MIR548M (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.00017/2 (ALFA)
          HGVS:
          5.

          rs1485813116 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            X:95063663 (GRCh38)
            X:94318662 (GRCh37)
            Canonical SPDI:
            NC_000023.11:95063662:A:T
            Gene:
            MIR548M (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            HGVS:
            6.

            rs1485024870 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              X:95064229 (GRCh38)
              X:94319228 (GRCh37)
              Canonical SPDI:
              NC_000023.11:95064228:T:C
              Gene:
              MIR548M (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1483022723 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:95063847 (GRCh38)
                X:94318846 (GRCh37)
                Canonical SPDI:
                NC_000023.11:95063846:T:C
                Gene:
                MIR548M (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.00001/1 (GnomAD)
                C=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1482979018 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  X:95064728 (GRCh38)
                  X:94319727 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:95064727:C:A
                  Gene:
                  MIR548M (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.00003/3 (GnomAD)
                  HGVS:
                  9.

                  rs1481554875 has merged into rs1167990817 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TATA>-,TA,TATATA [Show Flanks]
                    Chromosome:
                    X:95064550 (GRCh38)
                    X:94319549 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:95064541:TATATATATATA:TATATATA,NC_000023.11:95064541:TATATATATATA:TATATATATA,NC_000023.11:95064541:TATATATATATA:TATATATATATATA
                    Gene:
                    MIR548M (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TATATATATA=0./0 (ALFA)
                    -=0.000102/27 (TOPMED)
                    TA=0.00027/3 (TOMMO)
                    HGVS:
                    10.

                    rs1481163892 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      X:95062884 (GRCh38)
                      X:94317883 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:95062883:A:G
                      Gene:
                      MIR548M (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000038/10 (TOPMED)
                      HGVS:
                      11.

                      rs1475986533 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        X:95063959 (GRCh38)
                        X:94318958 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:95063958:G:A
                        Gene:
                        MIR548M (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000029/3 (GnomAD)
                        A=0.00003/8 (TOPMED)
                        HGVS:
                        12.

                        rs1475583096 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:95063963 (GRCh38)
                          X:94318962 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:95063962:G:A
                          Gene:
                          MIR548M (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          HGVS:
                          13.

                          rs1475561421 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            X:95062744 (GRCh38)
                            X:94317743 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:95062743:C:G,NC_000023.11:95062743:C:T
                            Gene:
                            MIR548M (Varview)
                            Functional Consequence:
                            500B_downstream_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1475455827 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              X:95063779 (GRCh38)
                              X:94318778 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:95063778:T:G
                              Gene:
                              MIR548M (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1475408730 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->TA [Show Flanks]
                                Chromosome:
                                X:95064529 (GRCh38)
                                X:94319529 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:95064529:ATATATATA:ATATATATATA
                                Gene:
                                MIR548M (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                ATATATATATA=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1471112331 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  X:95063559 (GRCh38)
                                  X:94318558 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:95063558:A:C
                                  Gene:
                                  MIR548M (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  C=0.000029/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1465290043 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    X:95063233 (GRCh38)
                                    X:94318232 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:95063232:T:C
                                    Gene:
                                    MIR548M (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.00001/1 (GnomAD)
                                    C=0.000018/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1464342937 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      A>- [Show Flanks]
                                      Chromosome:
                                      X:95063680 (GRCh38)
                                      X:94318679 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:95063679:AAA:AA
                                      Gene:
                                      MIR548M (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AA=0./0 (ALFA)
                                      -=0.000026/7 (TOPMED)
                                      -=0.000029/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1464044271 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        X:95063593 (GRCh38)
                                        X:94318592 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:95063592:A:T
                                        Gene:
                                        MIR548M (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.00001/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1462650210 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          G>- [Show Flanks]
                                          Chromosome:
                                          X:95065123 (GRCh38)
                                          X:94320122 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:95065122:G:
                                          Gene:
                                          MIR548M (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.000008/2 (TOPMED)
                                          -=0.00001/1 (GnomAD)
                                          HGVS:

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