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Links from Nucleotide

Items: 1 to 20 of 138

1.

rs1481958404 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    19:36687433 (GRCh38)
    19:37178335 (GRCh37)
    Canonical SPDI:
    NC_000019.10:36687432:A:G
    Gene:
    ZNF567 (Varview), ZNF567-DT (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000023/6 (TOPMED)
    G=0.000035/1 (TOMMO)
    HGVS:
    2.

    rs1479051561 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      19:36686011 (GRCh38)
      19:37176913 (GRCh37)
      Canonical SPDI:
      NC_000019.10:36686010:G:A
      Gene:
      ZNF567 (Varview), ZNF567-DT (Varview)
      Functional Consequence:
      non_coding_transcript_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)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1479025254 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        19:36686714 (GRCh38)
        19:37177616 (GRCh37)
        Canonical SPDI:
        NC_000019.10:36686713:G:A,NC_000019.10:36686713:G:T
        Gene:
        ZNF567 (Varview), ZNF567-DT (Varview)
        Functional Consequence:
        non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        HGVS:
        4.

        rs1475733731 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:36687311 (GRCh38)
          19:37178213 (GRCh37)
          Canonical SPDI:
          NC_000019.10:36687310:C:T
          Gene:
          ZNF567 (Varview), ZNF567-DT (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1467681081 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            19:36687437 (GRCh38)
            19:37178339 (GRCh37)
            Canonical SPDI:
            NC_000019.10:36687436:G:A,NC_000019.10:36687436:G:T
            Gene:
            ZNF567 (Varview), ZNF567-DT (Varview)
            Functional Consequence:
            non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000066/1 (ALFA)
            T=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            A=0.000223/1 (Estonian)
            HGVS:
            6.

            rs1462286011 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              19:36687358 (GRCh38)
              19:37178260 (GRCh37)
              Canonical SPDI:
              NC_000019.10:36687357:C:T
              Gene:
              ZNF567 (Varview), ZNF567-DT (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1460711134 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ACAC>- [Show Flanks]
                Chromosome:
                19:36687321 (GRCh38)
                19:37178223 (GRCh37)
                Canonical SPDI:
                NC_000019.10:36687316:ACACACAC:ACAC
                Gene:
                ZNF567 (Varview), ZNF567-DT (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                ACACACAC=0./0 (ALFA)
                -=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1453012315 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  19:36685464 (GRCh38)
                  19:37176366 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:36685463:G:A
                  Gene:
                  ZNF567 (Varview), ZNF567-DT (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1452908092 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    19:36686696 (GRCh38)
                    19:37177598 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:36686695:G:C
                    Gene:
                    ZNF567 (Varview), ZNF567-DT (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,non_coding_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:
                    10.

                    rs1452657144 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      19:36685865 (GRCh38)
                      19:37176767 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:36685864:A:C
                      Gene:
                      ZNF567 (Varview), ZNF567-DT (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000071/1 (ALFA)
                      C=0.000015/4 (TOPMED)
                      C=0.000029/4 (GnomAD)
                      HGVS:
                      11.

                      rs1440233274 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        19:36687366 (GRCh38)
                        19:37178268 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:36687365:C:G
                        Gene:
                        ZNF567 (Varview), ZNF567-DT (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.0002/1 (ALFA)
                        G=0.0002/1 (Estonian)
                        HGVS:
                        12.

                        rs1433273861 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          19:36685472 (GRCh38)
                          19:37176374 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:36685471:G:T
                          Gene:
                          ZNF567 (Varview), ZNF567-DT (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1428183425 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            19:36686701 (GRCh38)
                            19:37177603 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:36686700:G:C
                            Gene:
                            ZNF567 (Varview), ZNF567-DT (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000011/3 (TOPMED)
                            C=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1407880232 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              19:36686004 (GRCh38)
                              19:37176906 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:36686003:A:G
                              Gene:
                              ZNF567 (Varview), ZNF567-DT (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1406866114 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:36687272 (GRCh38)
                                19:37178174 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:36687271:C:T
                                Gene:
                                ZNF567 (Varview), ZNF567-DT (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_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:
                                16.

                                rs1405533240 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:36685920 (GRCh38)
                                  19:37176822 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:36685919:C:T
                                  Gene:
                                  ZNF567 (Varview), ZNF567-DT (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_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:
                                  17.

                                  rs1400892864 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    19:36686753 (GRCh38)
                                    19:37177655 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:36686752:C:G,NC_000019.10:36686752:C:T
                                    Gene:
                                    ZNF567 (Varview), ZNF567-DT (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1395273747 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      19:36686690 (GRCh38)
                                      19:37177592 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:36686689:C:A,NC_000019.10:36686689:C:T
                                      Gene:
                                      ZNF567 (Varview), ZNF567-DT (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      A=0.000029/4 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1392437093 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        19:36685916 (GRCh38)
                                        19:37176818 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:36685915:G:A
                                        Gene:
                                        ZNF567 (Varview), ZNF567-DT (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1391593310 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          19:36687365 (GRCh38)
                                          19:37178267 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:36687364:C:A
                                          Gene:
                                          ZNF567 (Varview), ZNF567-DT (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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