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Links from Gene

Items: 1 to 20 of 1423

1.

rs1490938723 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    7:99979197 (GRCh38)
    7:99576820 (GRCh37)
    Canonical SPDI:
    NC_000007.14:99979196:A:G
    Gene:
    AZGP1P1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1490254455 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      7:99984691 (GRCh38)
      7:99582314 (GRCh37)
      Canonical SPDI:
      NC_000007.14:99984690:A:G
      Gene:
      AZGP1P1 (Varview)
      Functional Consequence:
      downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      G=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1490124825 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        7:99978853 (GRCh38)
        7:99576476 (GRCh37)
        Canonical SPDI:
        NC_000007.14:99978852:A:G
        Gene:
        AZGP1P1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1489144521 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          7:99981073 (GRCh38)
          7:99578696 (GRCh37)
          Canonical SPDI:
          NC_000007.14:99981072:CT:
          Gene:
          AZGP1P1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1488971813 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            7:99979034 (GRCh38)
            7:99576657 (GRCh37)
            Canonical SPDI:
            NC_000007.14:99979033:C:T
            Gene:
            AZGP1P1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000026/7 (TOPMED)
            T=0.000043/6 (GnomAD)
            HGVS:
            6.

            rs1488522071 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              7:99979690 (GRCh38)
              7:99577313 (GRCh37)
              Canonical SPDI:
              NC_000007.14:99979689:G:A
              Gene:
              AZGP1P1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1488489444 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                7:99981344 (GRCh38)
                7:99578967 (GRCh37)
                Canonical SPDI:
                NC_000007.14:99981343:C:T
                Gene:
                AZGP1P1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000014/2 (GnomAD)
                T=0.000342/1 (KOREAN)
                HGVS:
                8.

                rs1488202875 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  7:99978819 (GRCh38)
                  7:99576442 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:99978818:A:G
                  Gene:
                  AZGP1P1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1487328292 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    7:99984067 (GRCh38)
                    7:99581690 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:99984066:G:A
                    Gene:
                    AZGP1P1 (Varview)
                    Functional Consequence:
                    non_coding_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.

                    rs1486158777 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      7:99983110 (GRCh38)
                      7:99580733 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:99983109:T:C
                      Gene:
                      AZGP1P1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1486147237 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        7:99983993 (GRCh38)
                        7:99581616 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:99983992:T:C
                        Gene:
                        AZGP1P1 (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:
                        12.

                        rs1485842337 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          7:99982244 (GRCh38)
                          7:99579867 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:99982243:C:T
                          Gene:
                          AZGP1P1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000224/1 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1485708343 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            7:99980669 (GRCh38)
                            7:99578292 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:99980668:G:A
                            Gene:
                            AZGP1P1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000019/5 (TOPMED)
                            A=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1485546526 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              7:99980768 (GRCh38)
                              7:99578391 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:99980767:A:C
                              Gene:
                              AZGP1P1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000008/2 (GnomAD_exomes)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1485542009 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                7:99982031 (GRCh38)
                                7:99579654 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:99982030:A:T
                                Gene:
                                AZGP1P1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1485252245 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  T>A
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:
                                  17.

                                  rs1484630972 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    7:99982145 (GRCh38)
                                    7:99579768 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:99982144:G:C
                                    Gene:
                                    AZGP1P1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    C=0.000035/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1484350555 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      7:99984086 (GRCh38)
                                      7:99581709 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:99984085:C:T
                                      Gene:
                                      AZGP1P1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1483145006 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        7:99979964 (GRCh38)
                                        7:99577587 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:99979963:C:G
                                        Gene:
                                        AZGP1P1 (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)
                                        HGVS:
                                        20.

                                        rs1482743344 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C [Show Flanks]
                                          Chromosome:
                                          7:99979430 (GRCh38)
                                          7:99577053 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:99979429:T:A,NC_000007.14:99979429:T:C
                                          Gene:
                                          AZGP1P1 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000029/4 (GnomAD)
                                          C=0.00003/8 (TOPMED)
                                          HGVS:

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