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Items: 1 to 20 of 1560

1.

rs1491077205 has merged into rs35525827 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAA>-,A,AA,AAAA [Show Flanks]
    Chromosome:
    2:146589870 (GRCh38)
    2:147347438 (GRCh37)
    Canonical SPDI:
    NC_000002.12:146589858:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:146589858:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:146589858:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:146589858:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
    Gene:
    PABPC1P2 (Varview), LOC124907895 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAAA=0./0 (ALFA)
    A=0.003/11 (TWINSUK)
    A=0.0031/12 (ALSPAC)
    A=0.0233/14 (NorthernSweden)
    A=0.0341/34 (GoNL)
    A=0.05/2 (GENOME_DK)
    HGVS:
    2.

    rs1490609252 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      2:146585108 (GRCh38)
      2:147342676 (GRCh37)
      Canonical SPDI:
      NC_000002.12:146585107:T:C
      Gene:
      PABPC1P2 (Varview), LOC124907895 (Varview)
      Functional Consequence:
      upstream_transcript_variant,intron_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000071/1 (ALFA)
      C=0./0 (GnomAD)
      C=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490240642 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        2:146590707 (GRCh38)
        2:147348275 (GRCh37)
        Canonical SPDI:
        NC_000002.12:146590706:C:G
        Gene:
        PABPC1P2 (Varview), LOC124907895 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1489275457 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:146587503 (GRCh38)
          2:147345071 (GRCh37)
          Canonical SPDI:
          NC_000002.12:146587502:G:A
          Gene:
          PABPC1P2 (Varview), LOC124907895 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1489223188 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->CAATGATTT [Show Flanks]
            Chromosome:
            2:146586618 (GRCh38)
            2:147344187 (GRCh37)
            Canonical SPDI:
            NC_000002.12:146586618:TCAATGATTT:TCAATGATTTCAATGATTT
            Gene:
            PABPC1P2 (Varview), LOC124907895 (Varview)
            Functional Consequence:
            upstream_transcript_variant,intron_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            TCAATGATTTCAATGATTT=0./0 (ALFA)
            TCAATGATT=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1489059833 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              2:146590249 (GRCh38)
              2:147347817 (GRCh37)
              Canonical SPDI:
              NC_000002.12:146590248:T:A,NC_000002.12:146590248:T:C
              Gene:
              PABPC1P2 (Varview), LOC124907895 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000014/2 (GnomAD)
              A=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1488956992 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                2:146591270 (GRCh38)
                2:147348838 (GRCh37)
                Canonical SPDI:
                NC_000002.12:146591269:T:C
                Gene:
                PABPC1P2 (Varview), LOC124907895 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1488731807 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ACCATTGCACTCCAGC>- [Show Flanks]
                  Chromosome:
                  2:146589812 (GRCh38)
                  2:147347380 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:146589809:GCACCATTGCACTCCAGC:GC
                  Gene:
                  PABPC1P2 (Varview), LOC124907895 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GC=0./0 (ALFA)
                  -=0.000022/3 (GnomAD)
                  -=0.000113/30 (TOPMED)
                  HGVS:
                  9.

                  rs1488629523 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    2:146590711 (GRCh38)
                    2:147348279 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:146590710:T:A
                    Gene:
                    PABPC1P2 (Varview), LOC124907895 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1488335949 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G,T [Show Flanks]
                      Chromosome:
                      2:146589747 (GRCh38)
                      2:147347315 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:146589746:A:C,NC_000002.12:146589746:A:G,NC_000002.12:146589746:A:T
                      Gene:
                      PABPC1P2 (Varview), LOC124907895 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1488113711 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:146589715 (GRCh38)
                        2:147347283 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:146589714:C:T
                        Gene:
                        PABPC1P2 (Varview), LOC124907895 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000014/2 (GnomAD)
                        T=0.000342/1 (KOREAN)
                        T=0.000389/7 (TOMMO)
                        T=0.001092/2 (Korea1K)
                        HGVS:
                        12.

                        rs1488113279 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:146588193 (GRCh38)
                          2:147345761 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:146588192:A:G
                          Gene:
                          PABPC1P2 (Varview), LOC124907895 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1487625540 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            2:146589486 (GRCh38)
                            2:147347054 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:146589485:C:A,NC_000002.12:146589485:C:T
                            Gene:
                            PABPC1P2 (Varview), LOC124907895 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000035/1 (TOMMO)
                            HGVS:
                            14.

                            rs1487095179 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:146589378 (GRCh38)
                              2:147346946 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:146589377:C:T
                              Gene:
                              PABPC1P2 (Varview), LOC124907895 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1487000375 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                2:146590275 (GRCh38)
                                2:147347843 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:146590274:T:A
                                Gene:
                                PABPC1P2 (Varview), LOC124907895 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1485664157 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  2:146587136 (GRCh38)
                                  2:147344704 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:146587135:T:G
                                  Gene:
                                  PABPC1P2 (Varview), LOC124907895 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1484927974 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    2:146586999 (GRCh38)
                                    2:147344567 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:146586998:G:C
                                    Gene:
                                    PABPC1P2 (Varview), LOC124907895 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1484218237 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:146585123 (GRCh38)
                                      2:147342691 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:146585122:T:C
                                      Gene:
                                      PABPC1P2 (Varview), LOC124907895 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000066/1 (ALFA)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1483557018 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:146588431 (GRCh38)
                                        2:147345999 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:146588430:A:G
                                        Gene:
                                        PABPC1P2 (Varview), LOC124907895 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1483138882 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          2:146587429 (GRCh38)
                                          2:147344997 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:146587428:G:T
                                          Gene:
                                          PABPC1P2 (Varview), LOC124907895 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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