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Links from Gene

Items: 1 to 20 of 931

1.

rs1490804579 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:195698400 (GRCh38)
    3:195425271 (GRCh37)
    Canonical SPDI:
    NC_000003.12:195698399:C:T
    Gene:
    MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490732693 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      3:195699697 (GRCh38)
      3:195426569 (GRCh37)
      Canonical SPDI:
      NC_000003.12:195699697:AA:AAA
      Gene:
      MIR570HG (Varview), MIR570 (Varview)
      Functional Consequence:
      intron_variant,downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      AAA=0./0 (ALFA)
      HGVS:
      3.

      rs1490671318 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:195698131 (GRCh38)
        3:195425002 (GRCh37)
        Canonical SPDI:
        NC_000003.12:195698130:T:C
        Gene:
        MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        HGVS:
        4.

        rs1489853074 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          3:195697851 (GRCh38)
          3:195424722 (GRCh37)
          Canonical SPDI:
          NC_000003.12:195697850:A:G
          Gene:
          MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000043/6 (GnomAD)
          HGVS:
          5.

          rs1489737997 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            T>- [Show Flanks]
            Chromosome:
            3:195699874 (GRCh38)
            3:195426745 (GRCh37)
            Canonical SPDI:
            NC_000003.12:195699873:TT:T
            Gene:
            MIR570HG (Varview), MIR570 (Varview)
            Functional Consequence:
            intron_variant,downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            TT=0./0 (ALFA)
            HGVS:
            6.

            rs1488221248 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              3:195698441 (GRCh38)
              3:195425312 (GRCh37)
              Canonical SPDI:
              NC_000003.12:195698440:G:T
              Gene:
              MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1487797621 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:195697461 (GRCh38)
                3:195424332 (GRCh37)
                Canonical SPDI:
                NC_000003.12:195697460:T:C
                Gene:
                MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1486484656 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  3:195699669 (GRCh38)
                  3:195426540 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:195699668:T:C
                  Gene:
                  MIR570HG (Varview), MIR570 (Varview)
                  Functional Consequence:
                  intron_variant,downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1484433410 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C,T [Show Flanks]
                    Chromosome:
                    3:195699136 (GRCh38)
                    3:195426007 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:195699135:G:A,NC_000003.12:195699135:G:C,NC_000003.12:195699135:G:T
                    Gene:
                    MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
                    Functional Consequence:
                    intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1484195269 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      T>- [Show Flanks]
                      Chromosome:
                      3:195699477 (GRCh38)
                      3:195426348 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:195699476:TTT:TT
                      Gene:
                      MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TT=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1484162707 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        3:195699246 (GRCh38)
                        3:195426117 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:195699245:G:T
                        Gene:
                        MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
                        Functional Consequence:
                        intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1484094701 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AT>- [Show Flanks]
                          Chromosome:
                          3:195699565 (GRCh38)
                          3:195426436 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:195699563:TAT:T
                          Gene:
                          MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
                          Functional Consequence:
                          intron_variant,downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1483307353 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:195698876 (GRCh38)
                            3:195425747 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:195698875:A:G
                            Gene:
                            MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1482981655 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              3:195698622 (GRCh38)
                              3:195425493 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:195698621:C:T
                              Gene:
                              MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1482906310 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                3:195698121 (GRCh38)
                                3:195424992 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:195698120:A:T
                                Gene:
                                MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1482475396 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  3:195698575 (GRCh38)
                                  3:195425446 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:195698574:T:C
                                  Gene:
                                  MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1481236196 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    3:195697899 (GRCh38)
                                    3:195424770 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:195697898:C:G
                                    Gene:
                                    MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1481050825 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      3:195698186 (GRCh38)
                                      3:195425057 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:195698185:C:G,NC_000003.12:195698185:C:T
                                      Gene:
                                      MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1480907571 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        A>- [Show Flanks]
                                        Chromosome:
                                        3:195697582 (GRCh38)
                                        3:195424453 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:195697581:A:
                                        Gene:
                                        MIR570HG (Varview), MIR570 (Varview), LOC124909477 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1480145869 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          3:195699863 (GRCh38)
                                          3:195426734 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:195699862:G:T
                                          Gene:
                                          MIR570HG (Varview), MIR570 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,500B_downstream_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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