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Links from Gene

Items: 1 to 20 of 4942

1.

rs1491003250 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    19:57560847 (GRCh38)
    19:58072215 (GRCh37)
    Canonical SPDI:
    NC_000019.10:57560846:A:T
    Gene:
    ZNF550 (Varview), LOC124904781 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,upstream_transcript_variant,intron_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:
    2.

    rs1490945365 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      19:57559640 (GRCh38)
      19:58071008 (GRCh37)
      Canonical SPDI:
      NC_000019.10:57559639:G:C
      Gene:
      ZNF550 (Varview), LOC124904781 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000019/5 (TOPMED)
      C=0.000029/4 (GnomAD)
      HGVS:
      3.

      rs1490849773 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        19:57559895 (GRCh38)
        19:58071263 (GRCh37)
        Canonical SPDI:
        NC_000019.10:57559894:T:C
        Gene:
        ZNF550 (Varview), LOC124904781 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_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:
        4.

        rs1490370257 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          19:57552528 (GRCh38)
          19:58063896 (GRCh37)
          Canonical SPDI:
          NC_000019.10:57552527:C:A
          Gene:
          ZNF550 (Varview)
          Functional Consequence:
          intron_variant
          HGVS:
          5.

          rs1490299649 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            19:57553739 (GRCh38)
            19:58065107 (GRCh37)
            Canonical SPDI:
            NC_000019.10:57553738:A:C
            Gene:
            ZNF550 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000015/4 (TOPMED)
            HGVS:
            6.

            rs1490266765 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->T [Show Flanks]
              Chromosome:
              19:57542065 (GRCh38)
              19:58053434 (GRCh37)
              Canonical SPDI:
              NC_000019.10:57542065:T:TT
              Gene:
              ZNF550 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TT=0./0 (ALFA)
              T=0.000011/3 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1490181645 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:57561637 (GRCh38)
                19:58073005 (GRCh37)
                Canonical SPDI:
                NC_000019.10:57561636:C:T
                Gene:
                ZNF550 (Varview), LOC124904781 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1489799420 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  19:57547647 (GRCh38)
                  19:58059015 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:57547646:C:G
                  Gene:
                  ZNF550 (Varview)
                  Functional Consequence:
                  synonymous_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000056/2 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1489683598 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:57563341 (GRCh38)
                    19:58074709 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:57563340:G:A
                    Gene:
                    ZNF550 (Varview), LOC124904781 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_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:
                    10.

                    rs1489653213 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      19:57562303 (GRCh38)
                      19:58073671 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:57562302:A:T
                      Gene:
                      ZNF550 (Varview), LOC124904781 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000014/2 (GnomAD)
                      T=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1489619639 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        19:57559089 (GRCh38)
                        19:58070457 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:57559088:A:C
                        Gene:
                        ZNF550 (Varview), LOC124904781 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489587975 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G [Show Flanks]
                          Chromosome:
                          19:57557947 (GRCh38)
                          19:58069315 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:57557946:A:C,NC_000019.10:57557946:A:G
                          Gene:
                          ZNF550 (Varview), LOC124904781 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489574802 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            19:57561506 (GRCh38)
                            19:58072874 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:57561505:A:G
                            Gene:
                            ZNF550 (Varview), LOC124904781 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1489364521 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              19:57542858 (GRCh38)
                              19:58054226 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:57542857:G:A
                              Gene:
                              ZNF550 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1489240668 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->T [Show Flanks]
                                Chromosome:
                                19:57553127 (GRCh38)
                                19:58064496 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:57553127:TTT:TTTT
                                Gene:
                                ZNF550 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTT=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1489188527 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:57554230 (GRCh38)
                                  19:58065598 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:57554229:G:A
                                  Gene:
                                  ZNF550 (Varview)
                                  Functional Consequence:
                                  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:
                                  17.

                                  rs1488872803 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:57554814 (GRCh38)
                                    19:58066182 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:57554813:C:T
                                    Gene:
                                    ZNF550 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488861056 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      19:57554738 (GRCh38)
                                      19:58066106 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:57554737:T:A
                                      Gene:
                                      ZNF550 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000021/3 (GnomAD)
                                      A=0.000026/7 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488614881 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        19:57562665 (GRCh38)
                                        19:58074033 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:57562664:C:T
                                        Gene:
                                        ZNF550 (Varview), LOC124904781 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,intron_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.

                                        rs1488528411 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          19:57550969 (GRCh38)
                                          19:58062337 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:57550968:C:G
                                          Gene:
                                          ZNF550 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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