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Items: 1 to 20 of 2280

1.

rs1491532082 has merged into rs71457914 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
    Chromosome:
    11:55299534 (GRCh38)
    11:55067010 (GRCh37)
    Canonical SPDI:
    NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:55299524:ATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
    Gene:
    TRIM51HP (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATATATA=0./0 (ALFA)
    HGVS:
    NC_000011.10:g.55299526TA[4], NC_000011.10:g.55299526TA[5], NC_000011.10:g.55299526TA[6], NC_000011.10:g.55299526TA[7], NC_000011.10:g.55299526TA[8], NC_000011.10:g.55299526TA[9], NC_000011.10:g.55299526TA[10], NC_000011.10:g.55299526TA[11], NC_000011.10:g.55299526TA[12], NC_000011.10:g.55299526TA[13], NC_000011.10:g.55299526TA[14], NC_000011.10:g.55299526TA[15], NC_000011.10:g.55299526TA[16], NC_000011.10:g.55299526TA[17], NC_000011.10:g.55299526TA[18], NC_000011.10:g.55299526TA[20], NC_000011.10:g.55299526TA[21], NC_000011.10:g.55299526TA[22], NC_000011.10:g.55299526TA[23], NC_000011.10:g.55299526TA[24], NC_000011.10:g.55299526TA[25], NC_000011.10:g.55299526TA[26], NC_000011.10:g.55299526TA[27], NC_000011.10:g.55299526TA[28], NC_000011.10:g.55299526TA[29], NC_000011.10:g.55299526TA[30], NC_000011.10:g.55299526TA[31], NC_000011.9:g.55067002TA[4], NC_000011.9:g.55067002TA[5], NC_000011.9:g.55067002TA[6], NC_000011.9:g.55067002TA[7], NC_000011.9:g.55067002TA[8], NC_000011.9:g.55067002TA[9], NC_000011.9:g.55067002TA[10], NC_000011.9:g.55067002TA[11], NC_000011.9:g.55067002TA[12], NC_000011.9:g.55067002TA[13], NC_000011.9:g.55067002TA[14], NC_000011.9:g.55067002TA[15], NC_000011.9:g.55067002TA[16], NC_000011.9:g.55067002TA[17], NC_000011.9:g.55067002TA[18], NC_000011.9:g.55067002TA[20], NC_000011.9:g.55067002TA[21], NC_000011.9:g.55067002TA[22], NC_000011.9:g.55067002TA[23], NC_000011.9:g.55067002TA[24], NC_000011.9:g.55067002TA[25], NC_000011.9:g.55067002TA[26], NC_000011.9:g.55067002TA[27], NC_000011.9:g.55067002TA[28], NC_000011.9:g.55067002TA[29], NC_000011.9:g.55067002TA[30], NC_000011.9:g.55067002TA[31]
    ...more
    2.

    rs1491348411 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TTAT [Show Flanks]
      Chromosome:
      11:55299525 (GRCh38)
      11:55067002 (GRCh37)
      Canonical SPDI:
      NC_000011.10:55299525:TAT:TATTTAT
      Gene:
      TRIM51HP (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      TATTTAT=0./0 (ALFA)
      TATT=0.00108/2 (GnomAD)
      HGVS:
      3.

      rs1490861367 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G [Show Flanks]
        Chromosome:
        11:55293814 (GRCh38)
        11:55061290 (GRCh37)
        Canonical SPDI:
        NC_000011.10:55293813:C:A,NC_000011.10:55293813:C:G
        Gene:
        TRIM51HP (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        A=0.000008/2 (TOPMED)
        ...more
        HGVS:
        4.

        rs1490681029 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          11:55299594 (GRCh38)
          11:55067070 (GRCh37)
          Canonical SPDI:
          NC_000011.10:55299593:C:G
          Gene:
          TRIM51HP (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:
          5.

          rs1490652195 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            11:55298883 (GRCh38)
            11:55066359 (GRCh37)
            Canonical SPDI:
            NC_000011.10:55298882:T:A
            Gene:
            TRIM51HP (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1490403894 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              T>- [Show Flanks]
              Chromosome:
              11:55294809 (GRCh38)
              11:55062285 (GRCh37)
              Canonical SPDI:
              NC_000011.10:55294808:TT:T
              Gene:
              TRIM51HP (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TT=0./0 (ALFA)
              -=0.000015/4 (TOPMED)
              -=0.000021/3 (GnomAD)
              ...more
              HGVS:
              7.

              rs1490224025 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:55294081 (GRCh38)
                11:55061557 (GRCh37)
                Canonical SPDI:
                NC_000011.10:55294080:C:T
                Gene:
                TRIM51HP (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1489809887 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:55298015 (GRCh38)
                  11:55065491 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:55298014:G:A
                  Gene:
                  TRIM51HP (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489744231 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    ACTTCTTTGTGGT>- [Show Flanks]
                    Chromosome:
                    11:55296187 (GRCh38)
                    11:55063663 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:55296186:ACTTCTTTGTGGT:
                    Gene:
                    TRIM51HP (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1489500099 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      11:55297749 (GRCh38)
                      11:55065225 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:55297748:A:C
                      Gene:
                      TRIM51HP (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      ...more
                      HGVS:
                      11.

                      rs1489319562 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        11:55298547 (GRCh38)
                        11:55066023 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:55298546:G:A,NC_000011.10:55298546:G:T
                        Gene:
                        TRIM51HP (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        ...more
                        HGVS:
                        12.

                        rs1488654909 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->C [Show Flanks]
                          Chromosome:
                          11:55293536 (GRCh38)
                          11:55061013 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:55293536:C:CC
                          Gene:
                          TRIM51HP (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CC=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000019/5 (TOPMED)
                          ...more
                          HGVS:
                          13.

                          rs1488007109 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            11:55295196 (GRCh38)
                            11:55062672 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:55295195:T:A
                            Gene:
                            TRIM51HP (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1487656937 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:55297421 (GRCh38)
                              11:55064897 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:55297420:G:A
                              Gene:
                              TRIM51HP (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              ...more
                              HGVS:
                              15.

                              rs1487609547 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                A>- [Show Flanks]
                                Chromosome:
                                11:55299541 (GRCh38)
                                11:55067017 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:55299540:A:
                                Gene:
                                TRIM51HP (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000028/3 (GnomAD)
                                HGVS:
                                16.

                                rs1487591742 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:55297801 (GRCh38)
                                  11:55065277 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:55297800:G:A
                                  Gene:
                                  TRIM51HP (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1487524667 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GGTATTCCTATAGG>- [Show Flanks]
                                    Chromosome:
                                    11:55297234 (GRCh38)
                                    11:55064710 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:55297231:GGGGTATTCCTATAGG:GG
                                    Gene:
                                    TRIM51HP (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    GG=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487021505 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      11:55293252 (GRCh38)
                                      11:55060728 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:55293251:A:G,NC_000011.10:55293251:A:T
                                      Gene:
                                      TRIM51HP (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486952848 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:55298304 (GRCh38)
                                        11:55065780 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:55298303:G:A
                                        Gene:
                                        TRIM51HP (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486880194 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TT>- [Show Flanks]
                                          Chromosome:
                                          11:55299665 (GRCh38)
                                          11:55067141 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:55299662:TTTT:TT
                                          Gene:
                                          TRIM51HP (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTTT=0./0 (ALFA)
                                          -=0.000014/2 (GnomAD)
                                          -=0.000019/5 (TOPMED)
                                          ...more
                                          HGVS:

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