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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491388594 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    9:35092370 (GRCh38)
    9:35092367 (GRCh37)
    Canonical SPDI:
    NC_000009.12:35092369:AG:
    Gene:
    PIGO (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,frameshift_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.0001/1 (ALFA)
    HGVS:
    2.

    rs1490933041 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      9:35089165 (GRCh38)
      9:35089162 (GRCh37)
      Canonical SPDI:
      NC_000009.12:35089164:A:G
      Gene:
      PIGO (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490151366 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        9:35097514 (GRCh38)
        9:35097511 (GRCh37)
        Canonical SPDI:
        NC_000009.12:35097513:A:T
        Gene:
        PIGO (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        HGVS:
        4.
        5.

        rs1489907332 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          9:35098057 (GRCh38)
          9:35098054 (GRCh37)
          Canonical SPDI:
          NC_000009.12:35098056:T:G
          Gene:
          PIGO (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          6.

          rs1489661507 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            9:35091807 (GRCh38)
            9:35091804 (GRCh37)
            Canonical SPDI:
            NC_000009.12:35091806:G:T
            Gene:
            PIGO (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant
            Clinical significance:
            uncertain-significance
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000028/1 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000007/1 (GnomAD)
            T=0.000008/2 (TOPMED)
            HGVS:
            7.

            rs1489125702 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              9:35096630 (GRCh38)
              9:35096627 (GRCh37)
              Canonical SPDI:
              NC_000009.12:35096629:G:C
              Gene:
              PIGO (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              8.

              rs1489073463 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                9:35095772 (GRCh38)
                9:35095769 (GRCh37)
                Canonical SPDI:
                NC_000009.12:35095771:G:T
                Gene:
                PIGO (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000015/4 (TOPMED)
                HGVS:
                9.

                rs1488953731 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:35095859 (GRCh38)
                  9:35095856 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:35095858:C:T
                  Gene:
                  PIGO (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  10.

                  rs1488869656 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    9:35092268 (GRCh38)
                    9:35092265 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:35092267:G:T
                    Gene:
                    PIGO (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    T=0.000021/3 (GnomAD)
                    HGVS:
                    11.

                    rs1488796322 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      9:35086608 (GRCh38)
                      9:35086605 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:35086607:G:A
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      12.

                      rs1488765638 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        9:35085310 (GRCh38)
                        9:35085307 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:35085309:G:A
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000026/7 (TOPMED)
                        A=0.000036/5 (GnomAD)
                        HGVS:
                        13.

                        rs1488724713 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          9:35096236 (GRCh38)
                          9:35096233 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:35096235:C:A,NC_000009.12:35096235:C:T
                          Gene:
                          PIGO (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          14.

                          rs1488553908 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:35094383 (GRCh38)
                            9:35094380 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:35094382:C:T
                            Gene:
                            PIGO (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            15.

                            rs1488227812 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              9:35093341 (GRCh38)
                              9:35093338 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:35093340:T:C
                              Gene:
                              PIGO (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              16.

                              rs1487907356 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                9:35093436 (GRCh38)
                                9:35093433 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:35093435:G:A
                                Gene:
                                PIGO (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                17.

                                rs1487827660 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  9:35088702 (GRCh38)
                                  9:35088699 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:35088701:T:C
                                  Gene:
                                  PIGO (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1487811612 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    9:35085270 (GRCh38)
                                    9:35085267 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:35085269:T:C
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    20.

                                    rs1487499885 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:35088138 (GRCh38)
                                      9:35088135 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:35088137:G:A
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:

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