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Links from Gene

Items: 1 to 20 of 1138

1.

rs1491160277 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TC [Show Flanks]
    Chromosome:
    10:11610634 (GRCh38)
    10:11652634 (GRCh37)
    Canonical SPDI:
    NC_000010.11:11610634:TC:TCTC
    Gene:
    USP6NL (Varview), USP6NL-AS1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    TCTC=0.00008/1 (ALFA)
    HGVS:
    2.

    rs1490575180 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      10:11611408 (GRCh38)
      10:11653407 (GRCh37)
      Canonical SPDI:
      NC_000010.11:11611407:G:A
      Gene:
      USP6NL (Varview), USP6NL-AS1 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490139490 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        10:11612213 (GRCh38)
        10:11654212 (GRCh37)
        Canonical SPDI:
        NC_000010.11:11612212:T:C
        Gene:
        USP6NL (Varview), USP6NL-AS1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1489118519 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          10:11612315 (GRCh38)
          10:11654314 (GRCh37)
          Canonical SPDI:
          NC_000010.11:11612314:T:G
          Gene:
          USP6NL (Varview), USP6NL-AS1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.0016/7 (ALFA)
          HGVS:
          5.

          rs1489084071 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            10:11612877 (GRCh38)
            10:11654876 (GRCh37)
            Canonical SPDI:
            NC_000010.11:11612876:A:C
            Gene:
            USP6NL (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1488090965 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              10:11610786 (GRCh38)
              10:11652785 (GRCh37)
              Canonical SPDI:
              NC_000010.11:11610785:G:A
              Gene:
              USP6NL (Varview), USP6NL-AS1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1487107231 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                10:11611143 (GRCh38)
                10:11653142 (GRCh37)
                Canonical SPDI:
                NC_000010.11:11611142:G:A,NC_000010.11:11611142:G:C
                Gene:
                USP6NL (Varview), USP6NL-AS1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1486915949 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  10:11609009 (GRCh38)
                  10:11651008 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:11609008:A:C
                  Gene:
                  USP6NL (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000066/1 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000223/1 (Estonian)
                  HGVS:
                  9.

                  rs1486812082 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    10:11611052 (GRCh38)
                    10:11653051 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:11611051:G:A,NC_000010.11:11611051:G:C
                    Gene:
                    USP6NL (Varview), USP6NL-AS1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000285/4 (ALFA)
                    C=0.000014/2 (GnomAD)
                    C=0.000015/4 (TOPMED)
                    A=0.000035/1 (TOMMO)
                    HGVS:
                    10.

                    rs1485805201 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->T [Show Flanks]
                      Chromosome:
                      10:11609459 (GRCh38)
                      10:11651459 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:11609459:TT:TTT
                      Gene:
                      USP6NL (Varview), USP6NL-AS1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTT=0./0 (ALFA)
                      T=0.000009/1 (GnomAD)
                      T=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1485782538 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:11611420 (GRCh38)
                        10:11653419 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:11611419:G:A
                        Gene:
                        USP6NL (Varview), USP6NL-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000015/4 (TOPMED)
                        A=0.000021/3 (GnomAD)
                        A=0.000106/2 (TOMMO)
                        HGVS:
                        12.

                        rs1485570051 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          10:11608824 (GRCh38)
                          10:11650823 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:11608823:A:T
                          Gene:
                          USP6NL (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1484825642 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            10:11609911 (GRCh38)
                            10:11651910 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:11609910:A:G
                            Gene:
                            USP6NL (Varview), USP6NL-AS1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1484774606 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTATTATTCTTACA>- [Show Flanks]
                              Chromosome:
                              10:11608948 (GRCh38)
                              10:11650947 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:11608946:ATTATTATTCTTACA:A
                              Gene:
                              USP6NL (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000034/9 (TOPMED)
                              HGVS:
                              15.

                              rs1484270630 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                10:11612745 (GRCh38)
                                10:11654744 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:11612744:T:G
                                Gene:
                                USP6NL (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1482401114 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->GG [Show Flanks]
                                  Chromosome:
                                  10:11610609 (GRCh38)
                                  10:11652609 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:11610609:GG:GGGG
                                  Gene:
                                  USP6NL (Varview), USP6NL-AS1 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GGGG=0./0 (ALFA)
                                  GG=0.000004/1 (TOPMED)
                                  GG=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1481698172 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    10:11611343 (GRCh38)
                                    10:11653342 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:11611342:C:T
                                    Gene:
                                    USP6NL (Varview), USP6NL-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_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:
                                    18.

                                    rs1478563398 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      10:11610543 (GRCh38)
                                      10:11652542 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:11610542:T:C
                                      Gene:
                                      USP6NL (Varview), USP6NL-AS1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_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:
                                      19.

                                      rs1478510834 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        10:11609437 (GRCh38)
                                        10:11651436 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:11609436:C:T
                                        Gene:
                                        USP6NL (Varview), USP6NL-AS1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,intron_variant,upstream_transcript_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:
                                        20.

                                        rs1477397948 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          10:11611126 (GRCh38)
                                          10:11653125 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:11611125:G:A
                                          Gene:
                                          USP6NL (Varview), USP6NL-AS1 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000026/7 (TOPMED)
                                          HGVS:

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