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Items: 1 to 20 of 769

1.

rs1490738759 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C,G [Show Flanks]
    Chromosome:
    1:39568778 (GRCh38)
    1:40034450 (GRCh37)
    Canonical SPDI:
    NC_000001.11:39568777:T:A,NC_000001.11:39568777:T:C,NC_000001.11:39568777:T:G
    Gene:
    PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000071/1 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490249816 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      1:39567366 (GRCh38)
      1:40033038 (GRCh37)
      Canonical SPDI:
      NC_000001.11:39567365:C:A
      Gene:
      PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
      Functional Consequence:
      intron_variant,downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1489447341 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:39566880 (GRCh38)
        1:40032552 (GRCh37)
        Canonical SPDI:
        NC_000001.11:39566879:T:C
        Gene:
        PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
        Functional Consequence:
        intron_variant,downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.00006/1 (TOMMO)
        HGVS:
        4.

        rs1489265772 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:39568494 (GRCh38)
          1:40034166 (GRCh37)
          Canonical SPDI:
          NC_000001.11:39568493:G:A
          Gene:
          PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1488415736 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            1:39567481 (GRCh38)
            1:40033153 (GRCh37)
            Canonical SPDI:
            NC_000001.11:39567480:C:A
            Gene:
            PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.0002/1 (ALFA)
            A=0.0002/1 (Estonian)
            HGVS:
            6.

            rs1486296870 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:39568742 (GRCh38)
              1:40034414 (GRCh37)
              Canonical SPDI:
              NC_000001.11:39568741:G:A
              Gene:
              PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:
              7.

              rs1485092742 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                1:39568546 (GRCh38)
                1:40034218 (GRCh37)
                Canonical SPDI:
                NC_000001.11:39568545:C:G
                Gene:
                PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1484665269 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:39569199 (GRCh38)
                  1:40034871 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:39569198:A:G
                  Gene:
                  PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1484609447 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:39568218 (GRCh38)
                    1:40033890 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:39568217:C:T
                    Gene:
                    PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1484527719 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:39567506 (GRCh38)
                      1:40033178 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:39567505:T:C
                      Gene:
                      PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      HGVS:
                      11.

                      rs1484301240 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:39567080 (GRCh38)
                        1:40032752 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:39567079:G:A
                        Gene:
                        PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,downstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1483121119 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          1:39567889 (GRCh38)
                          1:40033561 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:39567888:A:C
                          Gene:
                          PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,intron_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1481163288 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            1:39567864 (GRCh38)
                            1:40033536 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:39567863:C:G
                            Gene:
                            PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,intron_variant,upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1480998728 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:39568400 (GRCh38)
                              1:40034072 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:39568399:C:T
                              Gene:
                              PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1480948238 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ACT>- [Show Flanks]
                                Chromosome:
                                1:39567643 (GRCh38)
                                1:40033315 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:39567640:CTACT:CT
                                Gene:
                                PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                CT=0./0 (ALFA)
                                -=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1477298121 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  1:39567223 (GRCh38)
                                  1:40032895 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:39567222:T:G
                                  Gene:
                                  PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,intron_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1476002499 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:39567386 (GRCh38)
                                    1:40033058 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:39567385:G:A
                                    Gene:
                                    PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    HGVS:
                                    18.

                                    rs1475077785 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      1:39568727 (GRCh38)
                                      1:40034399 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:39568726:C:G,NC_000001.11:39568726:C:T
                                      Gene:
                                      PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1472200805 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        1:39568371 (GRCh38)
                                        1:40034043 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:39568370:G:T
                                        Gene:
                                        PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1471626946 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:39567498 (GRCh38)
                                          1:40033170 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:39567497:G:A
                                          Gene:
                                          PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:

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