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Items: 1 to 20 of 4469

1.

rs1491526950 has merged into rs770893268 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
    Chromosome:
    16:408534 (GRCh38)
    16:458534 (GRCh37)
    Canonical SPDI:
    NC_000016.10:408522:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:408522:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:408522:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:408522:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:408522:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:408522:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
    Gene:
    DECR2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.175/7 (GENOME_DK)
    HGVS:
    2.

    rs1491442147 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      >
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491409423 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        16:408523 (GRCh38)
        16:458524 (GRCh37)
        Canonical SPDI:
        NC_000016.10:408523::C
        Gene:
        DECR2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000008/1 (GnomAD)
        ...more
        HGVS:
        4.

        rs1491105505 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CC>- [Show Flanks]
          Chromosome:
          16:408016 (GRCh38)
          16:458016 (GRCh37)
          Canonical SPDI:
          NC_000016.10:408012:CCCCC:CCC
          Gene:
          DECR2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          CCC=0./0 (ALFA)
          HGVS:
          5.

          rs1490978525 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            16:405914 (GRCh38)
            16:455914 (GRCh37)
            Canonical SPDI:
            NC_000016.10:405913:G:C
            Gene:
            DECR2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            ...more
            HGVS:
            6.

            rs1490870669 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:405048 (GRCh38)
              16:455048 (GRCh37)
              Canonical SPDI:
              NC_000016.10:405047:C:T
              Gene:
              DECR2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490803610 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                16:405864 (GRCh38)
                16:455864 (GRCh37)
                Canonical SPDI:
                NC_000016.10:405863:T:C
                Gene:
                DECR2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1490797652 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  16:407688 (GRCh38)
                  16:457688 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:407687:C:T
                  Gene:
                  DECR2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0./0 (KOREAN)
                  T=0.000008/2 (TOPMED)
                  T=0.000021/3 (GnomAD)
                  ...more
                  HGVS:
                  9.

                  rs1490553166 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:411691 (GRCh38)
                    16:461691 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:411690:C:T
                    Gene:
                    DECR2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490316318 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:406630 (GRCh38)
                      16:456630 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:406629:T:C
                      Gene:
                      DECR2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      ...more
                      HGVS:
                      11.

                      rs1490290315 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        T>- [Show Flanks]
                        Chromosome:
                        16:408060 (GRCh38)
                        16:458060 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:408059:T:
                        Gene:
                        DECR2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency
                        MAF:
                        -=0.00007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490191559 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          16:410483 (GRCh38)
                          16:460483 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:410482:G:A,NC_000016.10:410482:G:T
                          Gene:
                          DECR2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.00004/1 (TOMMO)
                          G=0.5/1 (SGDP_PRJ)
                          ...more
                          HGVS:
                          13.

                          rs1490168238 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            16:410745 (GRCh38)
                            16:460745 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:410744:G:T
                            Gene:
                            DECR2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.0002/1 (ALFA)
                            HGVS:
                            14.

                            rs1490156517 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              16:405529 (GRCh38)
                              16:455529 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:405528:A:G
                              Gene:
                              DECR2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              ...more
                              HGVS:
                              15.

                              rs1489800495 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                16:408636 (GRCh38)
                                16:458636 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:408635:G:A
                                Gene:
                                DECR2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1488885601 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  16:405110 (GRCh38)
                                  16:455110 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:405109:T:G
                                  Gene:
                                  DECR2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  ...more
                                  HGVS:
                                  17.

                                  rs1488858945 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:410066 (GRCh38)
                                    16:460066 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:410065:C:T
                                    Gene:
                                    DECR2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000019/5 (TOPMED)
                                    T=0.000029/4 (GnomAD)
                                    ...more
                                    HGVS:
                                    18.

                                    rs1488676451 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      16:404318 (GRCh38)
                                      16:454318 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:404317:A:G
                                      Gene:
                                      DECR2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488352602 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        16:402645 (GRCh38)
                                        16:452645 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:402644:C:T
                                        Gene:
                                        DECR2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.00116/19 (ALFA)
                                        HGVS:
                                        20.

                                        rs1488351671 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:409412 (GRCh38)
                                          16:459412 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:409411:C:T
                                          Gene:
                                          DECR2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0.000169/2 (ALFA)
                                          T=0.000029/4 (GnomAD)
                                          HGVS:

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