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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490999245 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:28088629 (GRCh38)
    6:28056407 (GRCh37)
    Canonical SPDI:
    NC_000006.12:28088628:G:A
    Gene:
    ZNF165 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000028/1 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490861180 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      6:28090205 (GRCh38)
      6:28057983 (GRCh37)
      Canonical SPDI:
      NC_000006.12:28090204:G:A
      Gene:
      ZSCAN12P1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1490665117 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:28100392 (GRCh38)
        6:28068170 (GRCh37)
        Canonical SPDI:
        NC_000006.12:28100391:G:A
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1490627770 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:28099055 (GRCh38)
          6:28066833 (GRCh37)
          Canonical SPDI:
          NC_000006.12:28099054:C:T
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490467833 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            6:28080119 (GRCh38)
            6:28047897 (GRCh37)
            Canonical SPDI:
            NC_000006.12:28080118:T:A
            Gene:
            ZNF165 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1490402626 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              T>- [Show Flanks]
              Chromosome:
              6:28080727 (GRCh38)
              6:28048505 (GRCh37)
              Canonical SPDI:
              NC_000006.12:28080726:TTT:TT
              Gene:
              ZNF165 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              TT=0./0 (ALFA)
              -=0.000034/9 (TOPMED)
              HGVS:
              7.

              rs1490303795 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                6:28098111 (GRCh38)
                6:28065889 (GRCh37)
                Canonical SPDI:
                NC_000006.12:28098110:T:G
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490062264 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:28088874 (GRCh38)
                  6:28056652 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:28088873:C:T
                  Gene:
                  ZNF165 (Varview), ZSCAN12P1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000084/1 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489797494 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    T>- [Show Flanks]
                    Chromosome:
                    6:28086873 (GRCh38)
                    6:28054651 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:28086872:T:
                    Gene:
                    ZNF165 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1489509700 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      6:28100208 (GRCh38)
                      6:28067986 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:28100207:T:C
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000015/2 (GnomAD)
                      HGVS:
                      11.

                      rs1489435049 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:28099727 (GRCh38)
                        6:28067505 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:28099726:G:A
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1489409306 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          T>- [Show Flanks]
                          Chromosome:
                          6:28091680 (GRCh38)
                          6:28059458 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:28091679:TTT:TT
                          Gene:
                          ZSCAN12P1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TT=0.000054/1 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000007/1 (GnomAD)
                          -=0.000223/1 (Estonian)
                          HGVS:
                          13.

                          rs1489226585 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            6:28094499 (GRCh38)
                            6:28062277 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:28094498:T:A
                            Gene:
                            ZSCAN12P1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.00013/2 (ALFA)
                            A=0.00045/2 (Estonian)
                            HGVS:
                            14.

                            rs1489054873 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              6:28081639 (GRCh38)
                              6:28049417 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:28081638:C:A
                              Gene:
                              ZNF165 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1488247073 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,G [Show Flanks]
                                Chromosome:
                                6:28095969 (GRCh38)
                                6:28063747 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:28095968:T:A,NC_000006.12:28095968:T:G
                                Gene:
                                ZSCAN12P1 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000084/1 (ALFA)
                                A=0.000007/1 (GnomAD)
                                G=0.000035/1 (TOMMO)
                                HGVS:
                                16.

                                rs1488096808 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  6:28080150 (GRCh38)
                                  6:28047928 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:28080149:A:C,NC_000006.12:28080149:A:G
                                  Gene:
                                  ZNF165 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  C=0.00273/5 (Korea1K)
                                  HGVS:
                                  17.

                                  rs1487939963 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    6:28091472 (GRCh38)
                                    6:28059250 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:28091471:T:C
                                    Gene:
                                    ZSCAN12P1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    HGVS:
                                    18.

                                    rs1487775806 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      6:28094737 (GRCh38)
                                      6:28062515 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:28094736:A:G
                                      Gene:
                                      ZSCAN12P1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1487516552 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:28096174 (GRCh38)
                                        6:28063952 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:28096173:G:A
                                        Gene:
                                        ZSCAN12P1 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487445164 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          6:28094354 (GRCh38)
                                          6:28062132 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:28094353:C:A,NC_000006.12:28094353:C:T
                                          Gene:
                                          ZSCAN12P1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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