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Items: 1 to 20 of 7660

1.

rs1491443189 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    11:75778833 (GRCh38)
    11:75489878 (GRCh37)
    Canonical SPDI:
    NC_000011.10:75778832:CA:
    Gene:
    DGAT2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491405555 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      11:75787380 (GRCh38)
      11:75498425 (GRCh37)
      Canonical SPDI:
      NC_000011.10:75787379:CA:
      Gene:
      DGAT2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491401600 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        11:75797346 (GRCh38)
        11:75508391 (GRCh37)
        Canonical SPDI:
        NC_000011.10:75797345:TA:
        Gene:
        DGAT2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.0002/2 (ALFA)
        HGVS:
        4.

        rs1491132382 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->A [Show Flanks]
          Chromosome:
          11:75787380 (GRCh38)
          11:75498426 (GRCh37)
          Canonical SPDI:
          NC_000011.10:75787380:A:AA
          Gene:
          DGAT2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          AA=0./0 (ALFA)
          A=0.000023/6 (TOPMED)
          HGVS:
          5.

          rs1490844510 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            11:75769948 (GRCh38)
            11:75480993 (GRCh37)
            Canonical SPDI:
            NC_000011.10:75769947:T:G
            Gene:
            DGAT2 (Varview), DGAT2-DT (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1490827022 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              11:75774820 (GRCh38)
              11:75485865 (GRCh37)
              Canonical SPDI:
              NC_000011.10:75774819:A:G
              Gene:
              DGAT2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1490705688 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:75792561 (GRCh38)
                11:75503606 (GRCh37)
                Canonical SPDI:
                NC_000011.10:75792560:C:T
                Gene:
                DGAT2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490586880 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  11:75800363 (GRCh38)
                  11:75511408 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:75800362:C:T
                  Gene:
                  DGAT2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1490506636 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    11:75787087 (GRCh38)
                    11:75498132 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:75787086:C:G
                    Gene:
                    DGAT2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000019/5 (TOPMED)
                    G=0.000029/4 (GnomAD)
                    HGVS:
                    10.

                    rs1490440253 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      11:75784212 (GRCh38)
                      11:75495257 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:75784211:A:T
                      Gene:
                      DGAT2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490411923 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:75801390 (GRCh38)
                        11:75512435 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:75801389:C:T
                        Gene:
                        DGAT2 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/3 (TOPMED)
                        T=0.000029/4 (GnomAD)
                        HGVS:
                        12.

                        rs1490336249 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C,T [Show Flanks]
                          Chromosome:
                          11:75788275 (GRCh38)
                          11:75499320 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:75788274:G:A,NC_000011.10:75788274:G:C,NC_000011.10:75788274:G:T
                          Gene:
                          DGAT2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000015/4 (TOPMED)
                          C=0.000342/1 (KOREAN)
                          HGVS:
                          13.

                          rs1490246217 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            11:75767643 (GRCh38)
                            11:75478688 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:75767642:A:G
                            Gene:
                            DGAT2 (Varview), DGAT2-DT (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490135642 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:75782114 (GRCh38)
                              11:75493159 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:75782113:C:T
                              Gene:
                              DGAT2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000106/2 (TOMMO)
                              HGVS:
                              15.

                              rs1490122751 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                11:75799365 (GRCh38)
                                11:75510410 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:75799364:T:C
                                Gene:
                                DGAT2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1489919583 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:75791116 (GRCh38)
                                  11:75502161 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:75791115:C:T
                                  Gene:
                                  DGAT2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489919402 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:75769677 (GRCh38)
                                    11:75480722 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:75769676:C:T
                                    Gene:
                                    DGAT2 (Varview), DGAT2-DT (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489863399 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      11:75772002 (GRCh38)
                                      11:75483047 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:75772001:A:G
                                      Gene:
                                      DGAT2 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000021/3 (GnomAD)
                                      G=0.000042/11 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489719287 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:75768148 (GRCh38)
                                        11:75479193 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:75768147:G:A
                                        Gene:
                                        DGAT2 (Varview), DGAT2-DT (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        A=0.000035/1 (TOMMO)
                                        A=0.000312/2 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1489682673 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          11:75768823 (GRCh38)
                                          11:75479868 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:75768822:C:T
                                          Gene:
                                          DGAT2 (Varview), DGAT2-DT (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0./0 (GnomAD)
                                          T=0.000008/2 (TOPMED)
                                          T=0.000071/1 (TOMMO)
                                          T=0.000312/2 (1000Genomes)
                                          HGVS:

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