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Links from Nucleotide

Items: 1 to 20 of 671

1.

rs1491399224 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GT>- [Show Flanks]
    Chromosome:
    19:53215181 (GRCh38)
    19:53718434 (GRCh37)
    Canonical SPDI:
    NC_000019.10:53215180:GT:
    Gene:
    ZNF818P (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000699/93 (GnomAD)
    -=0.002054/34 (TOMMO)
    HGVS:
    2.

    rs1491386213 has merged into rs1205672386 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
      Chromosome:
      19:53215195 (GRCh38)
      19:53718448 (GRCh37)
      Canonical SPDI:
      NC_000019.10:53215181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:53215181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:53215181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:53215181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:53215181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:53215181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:53215181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
      Gene:
      ZNF818P (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTT=0./0 (ALFA)
      HGVS:
      3.

      rs1489756183 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TAATG>- [Show Flanks]
        Chromosome:
        19:53214457 (GRCh38)
        19:53717710 (GRCh37)
        Canonical SPDI:
        NC_000019.10:53214452:AATGTAATG:AATG
        Gene:
        ZNF818P (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AATG=0./0 (ALFA)
        -=0.000007/1 (GnomAD)
        -=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1488526539 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          19:53214860 (GRCh38)
          19:53718113 (GRCh37)
          Canonical SPDI:
          NC_000019.10:53214859:C:G
          Gene:
          ZNF818P (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000224/1 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000223/1 (Estonian)
          HGVS:
          5.

          rs1487074120 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            19:53213313 (GRCh38)
            19:53716566 (GRCh37)
            Canonical SPDI:
            NC_000019.10:53213312:G:T
            Gene:
            ZNF818P (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            HGVS:
            6.

            rs1485226981 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              19:53215691 (GRCh38)
              19:53718944 (GRCh37)
              Canonical SPDI:
              NC_000019.10:53215690:G:A
              Gene:
              ZNF818P (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000014/2 (GnomAD)
              A=0.000023/6 (TOPMED)
              HGVS:
              7.

              rs1484429100 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                19:53214230 (GRCh38)
                19:53717483 (GRCh37)
                Canonical SPDI:
                NC_000019.10:53214229:G:A,NC_000019.10:53214229:G:T
                Gene:
                ZNF818P (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1484281828 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CATT>- [Show Flanks]
                  Chromosome:
                  19:53214795 (GRCh38)
                  19:53718048 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:53214791:ATTCATT:ATT
                  Gene:
                  ZNF818P (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ATT=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1480818609 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TA>- [Show Flanks]
                    Chromosome:
                    19:53213055 (GRCh38)
                    19:53716308 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:53213052:TATA:TA
                    Gene:
                    ZNF818P (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TATA=0./0 (ALFA)
                    -=0.000007/1 (GnomAD)
                    -=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1480767192 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      19:53213138 (GRCh38)
                      19:53716391 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:53213137:A:C
                      Gene:
                      ZNF818P (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1480013963 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        19:53214588 (GRCh38)
                        19:53717841 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:53214587:G:C
                        Gene:
                        ZNF818P (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1479237220 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:53214620 (GRCh38)
                          19:53717873 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:53214619:C:T
                          Gene:
                          ZNF818P (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          T=0.00003/8 (TOPMED)
                          HGVS:
                          13.

                          rs1477656455 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            19:53213035 (GRCh38)
                            19:53716288 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:53213034:C:G
                            Gene:
                            ZNF818P (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1476544068 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:53214176 (GRCh38)
                              19:53717429 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:53214175:C:T
                              Gene:
                              ZNF818P (Varview)
                              Functional Consequence:
                              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:
                              15.

                              rs1474321074 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                19:53215247 (GRCh38)
                                19:53718500 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:53215246:C:A,NC_000019.10:53215246:C:T
                                Gene:
                                ZNF818P (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000084/1 (ALFA)
                                T=0.000011/3 (TOPMED)
                                T=0.000029/4 (GnomAD)
                                T=0.000156/1 (1000Genomes)
                                T=0.001097/18 (TOMMO)
                                C=0.5/1 (SGDP_PRJ)
                                HGVS:
                                16.

                                rs1473306099 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  19:53214427 (GRCh38)
                                  19:53717680 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:53214426:G:C
                                  Gene:
                                  ZNF818P (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1472916752 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    19:53213373 (GRCh38)
                                    19:53716626 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:53213372:C:G
                                    Gene:
                                    ZNF818P (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1471997401 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      19:53214287 (GRCh38)
                                      19:53717540 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:53214286:A:G
                                      Gene:
                                      ZNF818P (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.0002/1 (ALFA)
                                      G=0.0002/1 (Estonian)
                                      HGVS:
                                      19.

                                      rs1468693880 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        19:53213461 (GRCh38)
                                        19:53716714 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:53213460:A:G
                                        Gene:
                                        ZNF818P (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1466017027 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          19:53215210 (GRCh38)
                                          19:53718463 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:53215209:C:T
                                          Gene:
                                          ZNF818P (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000022/3 (GnomAD)
                                          T=0.000156/1 (1000Genomes)
                                          HGVS:

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