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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490984649 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    X:70178043 (GRCh38)
    X:69397893 (GRCh37)
    Canonical SPDI:
    NC_000023.11:70178042:G:A
    Gene:
    DGAT2L6 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000015/4 (TOPMED)
    A=0.000029/3 (GnomAD)
    HGVS:
    2.

    rs1490803377 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      X:70190438 (GRCh38)
      X:69410288 (GRCh37)
      Canonical SPDI:
      NC_000023.11:70190437:A:G
      Gene:
      DGAT2L6 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.00001/1 (GnomAD)
      HGVS:
      3.

      rs1490684782 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        X:70175660 (GRCh38)
        X:69395510 (GRCh37)
        Canonical SPDI:
        NC_000023.11:70175659:C:T
        Gene:
        DGAT2L6 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.00001/1 (GnomAD)
        HGVS:
        4.

        rs1490503472 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          X:70177382 (GRCh38)
          X:69397232 (GRCh37)
          Canonical SPDI:
          NC_000023.11:70177381:T:C
          Gene:
          DGAT2L6 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490317982 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            X:70200452 (GRCh38)
            X:69420302 (GRCh37)
            Canonical SPDI:
            NC_000023.11:70200451:G:C
            Gene:
            DGAT2L6 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000043/1 (ALFA)
            C=0.000011/2 (GnomAD_exomes)
            C=0.000019/2 (GnomAD)
            C=0.000072/19 (TOPMED)
            HGVS:
            6.

            rs1490299884 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              X:70202484 (GRCh38)
              X:69422334 (GRCh37)
              Canonical SPDI:
              NC_000023.11:70202483:A:G
              Gene:
              DGAT2L6 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000023/6 (TOPMED)
              G=0.000038/4 (GnomAD)
              HGVS:
              7.

              rs1489985271 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                X:70191164 (GRCh38)
                X:69411014 (GRCh37)
                Canonical SPDI:
                NC_000023.11:70191163:C:T
                Gene:
                DGAT2L6 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000019/5 (TOPMED)
                T=0.000029/3 (GnomAD)
                HGVS:
                8.

                rs1489716927 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  X:70200806 (GRCh38)
                  X:69420656 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:70200805:A:G
                  Gene:
                  DGAT2L6 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.00001/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489709711 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    X:70182270 (GRCh38)
                    X:69402120 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:70182269:C:G
                    Gene:
                    DGAT2L6 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000068/7 (GnomAD)
                    HGVS:
                    10.

                    rs1489605656 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      X:70179530 (GRCh38)
                      X:69399380 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:70179529:C:T
                      Gene:
                      DGAT2L6 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.00003/3 (GnomAD)
                      HGVS:
                      11.

                      rs1489528486 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        X:70192713 (GRCh38)
                        X:69412563 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:70192712:A:C
                        Gene:
                        DGAT2L6 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1489497529 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          A>- [Show Flanks]
                          Chromosome:
                          X:70191018 (GRCh38)
                          X:69410868 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:70191017:A:
                          Gene:
                          DGAT2L6 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000008/2 (TOPMED)
                          -=0.00001/1 (GnomAD)
                          HGVS:
                          13.

                          rs1489117493 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            X:70184218 (GRCh38)
                            X:69404068 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:70184217:C:T
                            Gene:
                            DGAT2L6 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1489067208 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              X:70201899 (GRCh38)
                              X:69421749 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:70201898:C:G
                              Gene:
                              DGAT2L6 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.00001/1 (GnomAD)
                              HGVS:
                              15.

                              rs1489049945 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                X:70205879 (GRCh38)
                                X:69425729 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:70205878:G:T
                                Gene:
                                DGAT2L6 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000019/2 (GnomAD)
                                HGVS:
                                16.

                                rs1488950375 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  X:70180701 (GRCh38)
                                  X:69400551 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:70180700:T:C
                                  Gene:
                                  DGAT2L6 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.00001/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1488905437 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    X:70181826 (GRCh38)
                                    X:69401676 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:70181825:C:T
                                    Gene:
                                    DGAT2L6 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.00001/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1488723955 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      X:70196029 (GRCh38)
                                      X:69415879 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:70196028:C:T
                                      Gene:
                                      DGAT2L6 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.00001/1 (GnomAD)
                                      T=0.000023/6 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488521463 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        A>- [Show Flanks]
                                        Chromosome:
                                        X:70191379 (GRCh38)
                                        X:69411229 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:70191378:AAAA:AAA
                                        Gene:
                                        DGAT2L6 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAA=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.00001/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1488302690 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          X:70178457 (GRCh38)
                                          X:69398307 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:70178456:G:A
                                          Gene:
                                          DGAT2L6 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.00001/1 (GnomAD)
                                          HGVS:

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