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Links from Gene

Items: 1 to 20 of 1152

1.

rs1490544507 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    17:42865686 (GRCh38)
    17:41017703 (GRCh37)
    Canonical SPDI:
    NC_000017.11:42865685:C:G
    Gene:
    AOC4P (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1488111360 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      17:42868890 (GRCh38)
      17:41020907 (GRCh37)
      Canonical SPDI:
      NC_000017.11:42868889:C:T
      Gene:
      AOC4P (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      HGVS:
      3.

      rs1487416968 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        17:42865882 (GRCh38)
        17:41017899 (GRCh37)
        Canonical SPDI:
        NC_000017.11:42865881:G:T
        Gene:
        AOC4P (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1487331910 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:42867597 (GRCh38)
          17:41019614 (GRCh37)
          Canonical SPDI:
          NC_000017.11:42867596:G:A
          Gene:
          AOC4P (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1487197779 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:42868635 (GRCh38)
            17:41020652 (GRCh37)
            Canonical SPDI:
            NC_000017.11:42868634:G:A
            Gene:
            AOC4P (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1486733300 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              17:42868808 (GRCh38)
              17:41020825 (GRCh37)
              Canonical SPDI:
              NC_000017.11:42868807:T:G
              Gene:
              AOC4P (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000111/1 (ALFA)
              G=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1486515476 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                17:42869366 (GRCh38)
                17:41021383 (GRCh37)
                Canonical SPDI:
                NC_000017.11:42869365:C:A
                Gene:
                AOC4P (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1486514442 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:42866365 (GRCh38)
                  17:41018382 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:42866364:C:T
                  Gene:
                  AOC4P (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000011/3 (TOPMED)
                  T=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1485713958 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:42865364 (GRCh38)
                    17:41017381 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:42865363:G:A
                    Gene:
                    AOC4P (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,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:
                    10.

                    rs1485593580 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      17:42868340 (GRCh38)
                      17:41020357 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:42868339:A:T
                      Gene:
                      AOC4P (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1484813658 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        17:42869350 (GRCh38)
                        17:41021367 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:42869349:T:G
                        Gene:
                        AOC4P (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1484086453 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          17:42869107 (GRCh38)
                          17:41021124 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:42869106:T:C
                          Gene:
                          AOC4P (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1482676814 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:42866810 (GRCh38)
                            17:41018827 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:42866809:T:C
                            Gene:
                            AOC4P (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1482433753 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:42866553 (GRCh38)
                              17:41018570 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:42866552:C:T
                              Gene:
                              AOC4P (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1481739947 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                17:42867350 (GRCh38)
                                17:41019367 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:42867349:T:C
                                Gene:
                                AOC4P (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1481659667 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G,T [Show Flanks]
                                  Chromosome:
                                  17:42866664 (GRCh38)
                                  17:41018681 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:42866663:A:G,NC_000017.11:42866663:A:T
                                  Gene:
                                  AOC4P (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,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)
                                  T=0.000035/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1481147614 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    17:42866358 (GRCh38)
                                    17:41018375 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:42866357:G:C
                                    Gene:
                                    AOC4P (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1481097536 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      17:42865226 (GRCh38)
                                      17:41017243 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:42865225:T:A
                                      Gene:
                                      AOC4P (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000021/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1480733544 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        17:42869483 (GRCh38)
                                        17:41021500 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:42869482:A:G
                                        Gene:
                                        AOC4P (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1480001731 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          17:42867656 (GRCh38)
                                          17:41019673 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:42867655:C:T
                                          Gene:
                                          AOC4P (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000011/3 (TOPMED)
                                          T=0.000013/3 (GnomAD_exomes)
                                          HGVS:

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