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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491349178 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GGCGACTCAGGTGGCGG [Show Flanks]
    Chromosome:
    7:29685472 (GRCh38)
    7:29725089 (GRCh37)
    Canonical SPDI:
    NC_000007.14:29685472:GGGGCGACTCAGGTGGCGG:GGGGCGACTCAGGTGGCGGGGCGACTCAGGTGGCGG
    Gene:
    DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    GGGGCGACTCAGGTGGCGGGGCGACTCAGGTGGCGG=0./0 (ALFA)
    GGGGCGACTCAGGTGGC=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1491300580 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AG>- [Show Flanks]
      Chromosome:
      7:29685472 (GRCh38)
      7:29725088 (GRCh37)
      Canonical SPDI:
      NC_000007.14:29685471:AG:
      Gene:
      DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.000071/1 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490973094 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        7:29686900 (GRCh38)
        7:29726516 (GRCh37)
        Canonical SPDI:
        NC_000007.14:29686899:T:C
        Gene:
        DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
        Functional Consequence:
        2KB_upstream_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490757692 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          7:29685412 (GRCh38)
          7:29725028 (GRCh37)
          Canonical SPDI:
          NC_000007.14:29685411:G:A,NC_000007.14:29685411:G:C,NC_000007.14:29685411:G:T
          Gene:
          DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (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)
          HGVS:
          5.

          rs1490154449 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            7:29687850 (GRCh38)
            7:29727466 (GRCh37)
            Canonical SPDI:
            NC_000007.14:29687849:G:A
            Gene:
            DPY19L2P3 (Varview)
            Functional Consequence:
            non_coding_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:
            6.

            rs1489639764 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              7:29683749 (GRCh38)
              7:29723365 (GRCh37)
              Canonical SPDI:
              NC_000007.14:29683748:G:A,NC_000007.14:29683748:G:C
              Gene:
              DPY19L2P3 (Varview), LOC646762 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              rs1489412796 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                7:29685627 (GRCh38)
                7:29725243 (GRCh37)
                Canonical SPDI:
                NC_000007.14:29685626:C:T
                Gene:
                DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1489315448 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  7:29686466 (GRCh38)
                  7:29726082 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:29686465:G:A
                  Gene:
                  DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000019/5 (TOPMED)
                  HGVS:
                  9.

                  rs1488903308 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    7:29684715 (GRCh38)
                    7:29724331 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:29684714:A:T
                    Gene:
                    DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1488344683 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      7:29685074 (GRCh38)
                      7:29724690 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:29685073:CCCCC:CCCC
                      Gene:
                      DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CCCC=0./0 (ALFA)
                      -=0.000014/2 (GnomAD)
                      -=0.000015/4 (TOPMED)
                      HGVS:
                      11.

                      rs1488294728 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        7:29685619 (GRCh38)
                        7:29725235 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:29685618:C:T
                        Gene:
                        DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (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)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1487795437 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          7:29688434 (GRCh38)
                          7:29728050 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:29688433:G:A
                          Gene:
                          DPY19L2P3 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1487393423 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            7:29685146 (GRCh38)
                            7:29724762 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:29685145:G:A,NC_000007.14:29685145:G:C
                            Gene:
                            DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1487062738 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              7:29684623 (GRCh38)
                              7:29724239 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:29684622:C:T
                              Gene:
                              DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
                              Functional Consequence:
                              intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1486135886 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                7:29686368 (GRCh38)
                                7:29725984 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:29686367:C:G,NC_000007.14:29686367:C:T
                                Gene:
                                DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1486042875 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  T>- [Show Flanks]
                                  Chromosome:
                                  7:29687208 (GRCh38)
                                  7:29726824 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:29687207:TTTT:TTT
                                  Gene:
                                  DPY19L2P3 (Varview), ZNRF2P2 (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  TTT=0./0 (ALFA)
                                  -=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1485338172 has merged into rs33966783 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    7:29686314 (GRCh38)
                                    7:29725930 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:29686300:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    DPY19L2P3 (Varview), LOC646762 (Varview), ZNRF2P2 (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
                                    -=0.3207/1606 (1000Genomes)
                                    HGVS:
                                    18.

                                    rs1484995226 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      7:29687559 (GRCh38)
                                      7:29727175 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:29687558:C:T
                                      Gene:
                                      DPY19L2P3 (Varview), ZNRF2P2 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1483426186 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        7:29683184 (GRCh38)
                                        7:29722800 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:29683183:T:C
                                        Gene:
                                        DPY19L2P3 (Varview), LOC646762 (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1483218907 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          7:29683990 (GRCh38)
                                          7:29723606 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:29683989:G:A
                                          Gene:
                                          DPY19L2P3 (Varview), LOC646762 (Varview)
                                          Functional Consequence:
                                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000054/1 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:

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