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Links from Gene

Items: 1 to 20 of 1020

1.

rs1490581643 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    17:16790794 (GRCh38)
    17:16694108 (GRCh37)
    Canonical SPDI:
    NC_000017.11:16790793:T:C
    Gene:
    USP32P1 (Varview), FAM106C (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0.000169/2 (ALFA)
    C=0.000043/6 (GnomAD)
    HGVS:
    2.

    rs1490238845 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TGAAG>- [Show Flanks]
      Chromosome:
      17:16789635 (GRCh38)
      17:16692949 (GRCh37)
      Canonical SPDI:
      NC_000017.11:16789631:AAGTGAAG:AAG
      Gene:
      USP32P1 (Varview), FAM106C (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      AAG=0./0 (ALFA)
      HGVS:
      3.

      rs1489717739 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        17:16790020 (GRCh38)
        17:16693334 (GRCh37)
        Canonical SPDI:
        NC_000017.11:16790019:G:A,NC_000017.11:16790019:G:T
        Gene:
        USP32P1 (Varview), FAM106C (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        A=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1488120727 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          17:16787965 (GRCh38)
          17:16691279 (GRCh37)
          Canonical SPDI:
          NC_000017.11:16787964:C:G,NC_000017.11:16787964:C:T
          Gene:
          USP32P1 (Varview), FAM106C (Varview)
          Functional Consequence:
          2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000036/5 (GnomAD)
          HGVS:
          5.

          rs1488003597 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            C>T
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1487360431 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              17:16790749 (GRCh38)
              17:16694063 (GRCh37)
              Canonical SPDI:
              NC_000017.11:16790748:C:G,NC_000017.11:16790748:C:T
              Gene:
              USP32P1 (Varview), FAM106C (Varview)
              Functional Consequence:
              downstream_transcript_variant,500B_downstream_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1487114898 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                17:16789895 (GRCh38)
                17:16693209 (GRCh37)
                Canonical SPDI:
                NC_000017.11:16789894:A:T
                Gene:
                USP32P1 (Varview), FAM106C (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000253/3 (ALFA)
                T=0.000128/18 (GnomAD)
                T=0.000177/3 (TOMMO)
                T=0.001027/3 (KOREAN)
                HGVS:
                8.

                rs1486913850 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  17:16790651 (GRCh38)
                  17:16693965 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:16790650:G:A
                  Gene:
                  USP32P1 (Varview), FAM106C (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant,intron_variant
                  HGVS:
                  9.

                  rs1486801102 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:16790828 (GRCh38)
                    17:16694142 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:16790827:C:T
                    Gene:
                    USP32P1 (Varview), FAM106C (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000312/2 (1000Genomes)
                    HGVS:
                    10.

                    rs1485818953 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      17:16787685 (GRCh38)
                      17:16690999 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:16787684:C:A
                      Gene:
                      USP32P1 (Varview), FAM106C (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1484999457 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        17:16788839 (GRCh38)
                        17:16692153 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:16788838:A:G
                        Gene:
                        USP32P1 (Varview), FAM106C (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1484790248 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:16787435 (GRCh38)
                          17:16690749 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:16787434:G:A
                          Gene:
                          USP32P1 (Varview), FAM106C (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000022/3 (GnomAD)
                          HGVS:
                          13.

                          rs1484761200 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:16788103 (GRCh38)
                            17:16691417 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:16788102:C:T
                            Gene:
                            USP32P1 (Varview), FAM106C (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1484462199 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              17:16788920 (GRCh38)
                              17:16692234 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:16788919:T:A
                              Gene:
                              USP32P1 (Varview), FAM106C (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1483580843 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                17:16787560 (GRCh38)
                                17:16690874 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:16787559:CC:C
                                Gene:
                                USP32P1 (Varview), FAM106C (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                HGVS:
                                16.

                                rs1483316088 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  17:16790420 (GRCh38)
                                  17:16693734 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:16790419:A:G
                                  Gene:
                                  USP32P1 (Varview), FAM106C (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000015/4 (TOPMED)
                                  G=0.000029/4 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1483283802 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->ACTT [Show Flanks]
                                    Chromosome:
                                    17:16788331 (GRCh38)
                                    17:16691646 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:16788331:ACTT:ACTTACTT
                                    Gene:
                                    USP32P1 (Varview), FAM106C (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    ACTTACTT=0./0 (ALFA)
                                    ACTT=0.000011/3 (TOPMED)
                                    ACTT=0.00005/7 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1481804488 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      17:16789091 (GRCh38)
                                      17:16692405 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:16789090:C:A
                                      Gene:
                                      USP32P1 (Varview), FAM106C (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1481050420 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        17:16787328 (GRCh38)
                                        17:16690642 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:16787327:A:G
                                        Gene:
                                        USP32P1 (Varview), FAM106C (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1480820833 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C,T [Show Flanks]
                                          Chromosome:
                                          17:16789608 (GRCh38)
                                          17:16692922 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:16789607:G:C,NC_000017.11:16789607:G:T
                                          Gene:
                                          USP32P1 (Varview), FAM106C (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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