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Links from Gene

Items: 1 to 20 of 1595

1.

rs1491053904 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GT>- [Show Flanks]
    Chromosome:
    22:46054324 (GRCh38)
    22:46450204 (GRCh37)
    Canonical SPDI:
    NC_000022.11:46054323:GT:
    Gene:
    PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
    Functional Consequence:
    2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491040291 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C,GT [Show Flanks]
      Chromosome:
      22:46054324 (GRCh38)
      22:46450205 (GRCh37)
      Canonical SPDI:
      NC_000022.11:46054324::C,NC_000022.11:46054324::GT
      Gene:
      PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
      Functional Consequence:
      2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      GT=0./0 (ALFA)
      HGVS:
      3.

      rs1489681820 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        22:46055091 (GRCh38)
        22:46450971 (GRCh37)
        Canonical SPDI:
        NC_000022.11:46055090:A:G
        Gene:
        PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
        Functional Consequence:
        2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000224/1 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000223/1 (Estonian)
        HGVS:
        4.

        rs1489196496 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          22:46054702 (GRCh38)
          22:46450582 (GRCh37)
          Canonical SPDI:
          NC_000022.11:46054701:C:T
          Gene:
          PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
          Functional Consequence:
          2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000019/5 (TOPMED)
          HGVS:
          5.

          rs1488925682 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            22:46054883 (GRCh38)
            22:46450763 (GRCh37)
            Canonical SPDI:
            NC_000022.11:46054882:G:C
            Gene:
            PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/1 (GnomAD)
            HGVS:
            6.

            rs1488874026 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              22:46053025 (GRCh38)
              22:46448905 (GRCh37)
              Canonical SPDI:
              NC_000022.11:46053024:A:G
              Gene:
              PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000014/2 (GnomAD)
              G=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1488787118 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                22:46054818 (GRCh38)
                22:46450698 (GRCh37)
                Canonical SPDI:
                NC_000022.11:46054817:A:C
                Gene:
                PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1488514140 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  22:46055861 (GRCh38)
                  22:46451741 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:46055860:C:T
                  Gene:
                  PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000021/3 (GnomAD)
                  T=0.000023/6 (TOPMED)
                  HGVS:
                  9.

                  rs1488171823 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    22:46054413 (GRCh38)
                    22:46450293 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:46054412:GG:G
                    Gene:
                    PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GG=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1487716818 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      22:46053444 (GRCh38)
                      22:46449324 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:46053443:G:A
                      Gene:
                      PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000026/7 (TOPMED)
                      HGVS:
                      11.

                      rs1487458225 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G,T [Show Flanks]
                        Chromosome:
                        22:46054272 (GRCh38)
                        22:46450152 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:46054271:A:C,NC_000022.11:46054271:A:G,NC_000022.11:46054271:A:T
                        Gene:
                        PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        T=0.000008/1 (GnomAD)
                        G=0.000248/4 (TOMMO)
                        HGVS:
                        12.

                        rs1487334840 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          22:46053894 (GRCh38)
                          22:46449774 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:46053893:C:A,NC_000022.11:46053893:C:T
                          Gene:
                          PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant,genic_upstream_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:
                          13.

                          rs1487225659 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            22:46050483 (GRCh38)
                            22:46446363 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:46050482:C:G,NC_000022.11:46050482:C:T
                            Gene:
                            PRR34 (Varview), LOC124905135 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1487181485 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              22:46051468 (GRCh38)
                              22:46447348 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:46051467:G:A,NC_000022.11:46051467:G:T
                              Gene:
                              PRR34 (Varview), LOC124905135 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1486796974 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                22:46054841 (GRCh38)
                                22:46450721 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:46054840:T:A
                                Gene:
                                PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                HGVS:
                                16.

                                rs1486735035 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  22:46053987 (GRCh38)
                                  22:46449867 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:46053986:G:T
                                  Gene:
                                  PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  HGVS:
                                  17.

                                  rs1486351386 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:46050827 (GRCh38)
                                    22:46446707 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:46050826:G:A
                                    Gene:
                                    PRR34 (Varview), LOC124905135 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    A=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485734113 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      22:46050699 (GRCh38)
                                      22:46446579 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:46050698:C:T
                                      Gene:
                                      PRR34 (Varview), LOC124905135 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant,genic_upstream_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:
                                      19.

                                      rs1485606145 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        22:46054611 (GRCh38)
                                        22:46450491 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:46054610:C:T
                                        Gene:
                                        PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000021/3 (GnomAD)
                                        T=0.000425/7 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1484993762 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          G>- [Show Flanks]
                                          Chromosome:
                                          22:46053651 (GRCh38)
                                          22:46449531 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:46053650:GGGG:GGG
                                          Gene:
                                          PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          GGG=0.000071/1 (ALFA)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:

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