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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491399763 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    19:9619862 (GRCh38)
    19:9730539 (GRCh37)
    Canonical SPDI:
    NC_000019.10:9619862::C
    Gene:
    ZNF561 (Varview), ZNF561-AS1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.000035/1 (TOMMO)
    C=0.044191/283 (1000Genomes)
    C=0.049731/5908 (GnomAD)
    HGVS:
    2.

    rs1491149711 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CTAT,CTATAT,CTCTAT,CTCTCTAT [Show Flanks]
      Chromosome:
      19:9622318 (GRCh38)
      19:9732995 (GRCh37)
      Canonical SPDI:
      NC_000019.10:9622318:T:TCTAT,NC_000019.10:9622318:T:TCTATAT,NC_000019.10:9622318:T:TCTCTAT,NC_000019.10:9622318:T:TCTCTCTAT
      Gene:
      ZNF561 (Varview), ZNF561-AS1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TCTCTAT=0./0 (ALFA)
      TCTA=0.00167/1 (NorthernSweden)
      TCTA=0.00394/66 (TOMMO)
      HGVS:
      3.

      rs1491095098 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>- [Show Flanks]
        Chromosome:
        19:9619863 (GRCh38)
        19:9730539 (GRCh37)
        Canonical SPDI:
        NC_000019.10:9619861:TTT:T
        Gene:
        ZNF561 (Varview), ZNF561-AS1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0.00017/2 (ALFA)
        HGVS:
        4.

        rs1491083566 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          19:9619929 (GRCh38)
          19:9730606 (GRCh37)
          Canonical SPDI:
          NC_000019.10:9619929:C:CC
          Gene:
          ZNF561 (Varview), ZNF561-AS1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          CC=0./0 (ALFA)
          HGVS:
          5.

          rs1491075946 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->AC
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1490909149 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->T [Show Flanks]
              Chromosome:
              19:9612758 (GRCh38)
              19:9723435 (GRCh37)
              Canonical SPDI:
              NC_000019.10:9612758:T:TT
              Gene:
              ZNF561 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              TT=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490740882 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                19:9622807 (GRCh38)
                19:9733483 (GRCh37)
                Canonical SPDI:
                NC_000019.10:9622806:A:G
                Gene:
                ZNF561 (Varview), ZNF561-AS1 (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)
                HGVS:
                8.

                rs1490637805 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  19:9621064 (GRCh38)
                  19:9731740 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:9621063:G:T
                  Gene:
                  ZNF561 (Varview), ZNF561-AS1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000029/4 (GnomAD)
                  HGVS:
                  9.

                  rs1490457684 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    19:9621576 (GRCh38)
                    19:9732252 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:9621575:C:T
                    Gene:
                    ZNF561 (Varview), ZNF561-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490445492 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      19:9614885 (GRCh38)
                      19:9725561 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:9614884:C:A
                      Gene:
                      ZNF561 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490313557 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        19:9620313 (GRCh38)
                        19:9730989 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:9620312:C:A,NC_000019.10:9620312:C:T
                        Gene:
                        ZNF561 (Varview), ZNF561-AS1 (Varview)
                        Functional Consequence:
                        2KB_upstream_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)
                        C=0.5/1 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1490261628 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          19:9619846 (GRCh38)
                          19:9730522 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:9619845:T:A,NC_000019.10:9619845:T:C
                          Gene:
                          ZNF561 (Varview), ZNF561-AS1 (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)
                          A=0.000007/1 (GnomAD)
                          A=0.000011/3 (TOPMED)
                          A=0.000312/2 (1000Genomes)
                          HGVS:
                          13.

                          rs1490133309 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            19:9617184 (GRCh38)
                            19:9727860 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:9617183:A:G
                            Gene:
                            ZNF561 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1490119031 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              ATT>- [Show Flanks]
                              Chromosome:
                              19:9613967 (GRCh38)
                              19:9724643 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:9613966:ATT:
                              Gene:
                              ZNF561 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1489822749 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G [Show Flanks]
                                Chromosome:
                                19:9620728 (GRCh38)
                                19:9731404 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:9620727:A:C,NC_000019.10:9620727:A:G
                                Gene:
                                ZNF561 (Varview), ZNF561-AS1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                C=0.00025/4 (TOMMO)
                                HGVS:
                                16.

                                rs1489782543 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GAGA>-,GAGAGA [Show Flanks]
                                  Chromosome:
                                  19:9608314 (GRCh38)
                                  19:9718990 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:9608307:GAGAGAGAGA:GAGAGA,NC_000019.10:9608307:GAGAGAGAGA:GAGAGAGAGAGA
                                  Gene:
                                  ZNF561 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GAGAGA=0./0 (ALFA)
                                  -=0.000019/5 (TOPMED)
                                  -=0.000021/3 (GnomAD)
                                  -=0.000546/1 (Korea1K)
                                  HGVS:
                                  NC_000019.10:g.9608308GA[3], NC_000019.10:g.9608308GA[6], NC_000019.9:g.9718984GA[3], NC_000019.9:g.9718984GA[6], XM_006722938.4:c.*1883TC[3], XM_006722938.4:c.*1883TC[6], XM_006722938.3:c.*1883TC[3], XM_006722938.3:c.*1883TC[6], XM_006722938.2:c.*1883TC[3], XM_006722938.2:c.*1883TC[6], XM_005260150.3:c.*1883TC[3], XM_005260150.3:c.*1883TC[6], XM_005260150.2:c.*1883TC[3], XM_005260150.2:c.*1883TC[6], XM_011528434.3:c.*1883TC[3], XM_011528434.3:c.*1883TC[6], XM_011528434.2:c.*1883TC[3], XM_011528434.2:c.*1883TC[6], NM_152289.3:c.*1883TC[3], NM_152289.3:c.*1883TC[6], NM_152289.2:c.*1883TC[3], NM_152289.2:c.*1883TC[6], XM_017027479.3:c.*1883TC[3], XM_017027479.3:c.*1883TC[6], XM_017027479.2:c.*1883TC[3], XM_017027479.2:c.*1883TC[6], XM_017027479.1:c.*1883TC[3], XM_017027479.1:c.*1883TC[6], XM_024451781.2:c.*1883TC[3], XM_024451781.2:c.*1883TC[6], XM_024451781.1:c.*1883TC[3], XM_024451781.1:c.*1883TC[6], NM_001330365.2:c.*1883TC[3], NM_001330365.2:c.*1883TC[6], NM_001330365.1:c.*1883TC[3], NM_001330365.1:c.*1883TC[6], XM_047439709.1:c.*1883TC[3], XM_047439709.1:c.*1883TC[6], XM_047439708.1:c.*1883TC[3], XM_047439708.1:c.*1883TC[6], XM_047439711.1:c.*1883TC[3], XM_047439711.1:c.*1883TC[6], XM_047439710.1:c.*1883TC[3], XM_047439710.1:c.*1883TC[6], XM_047439712.1:c.*1883TC[3], XM_047439712.1:c.*1883TC[6]
                                  17.

                                  rs1489720248 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:9612467 (GRCh38)
                                    19:9723143 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:9612466:C:T
                                    Gene:
                                    ZNF561 (Varview)
                                    Functional Consequence:
                                    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:
                                    18.

                                    rs1489590701 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TATA>- [Show Flanks]
                                      Chromosome:
                                      19:9622363 (GRCh38)
                                      19:9733039 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:9622359:ATATATA:ATA
                                      Gene:
                                      ZNF561 (Varview), ZNF561-AS1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      ATA=0./0 (ALFA)
                                      HGVS:
                                      20.

                                      rs1489567446 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        19:9622206 (GRCh38)
                                        19:9732882 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:9622205:G:A
                                        Gene:
                                        ZNF561 (Varview), ZNF561-AS1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:

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