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Items: 1 to 20 of 10376

1.

rs1491536732 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    C>-,CC [Show Flanks]
    Chromosome:
    6:160245882 (GRCh38)
    6:160666914 (GRCh37)
    Canonical SPDI:
    NC_000006.12:160245881:CCCC:CCC,NC_000006.12:160245881:CCCC:CCCCC
    Gene:
    SLC22A2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCCCC=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000008/1 (GnomAD)
    ...more
    HGVS:
    2.

    rs1491439718 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TC>- [Show Flanks]
      Chromosome:
      6:160245881 (GRCh38)
      6:160666913 (GRCh37)
      Canonical SPDI:
      NC_000006.12:160245880:TC:
      Gene:
      SLC22A2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491069071 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->T,TT [Show Flanks]
        Chromosome:
        6:160256900 (GRCh38)
        6:160677933 (GRCh37)
        Canonical SPDI:
        NC_000006.12:160256900:T:TT,NC_000006.12:160256900:T:TTT
        Gene:
        SLC22A2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TT=0.00202/24 (ALFA)
        T=0.00085/14 (TOMMO)
        T=0.00478/260 (GnomAD)
        ...more
        HGVS:
        4.

        rs1490954242 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:160250350 (GRCh38)
          6:160671382 (GRCh37)
          Canonical SPDI:
          NC_000006.12:160250349:C:T
          Gene:
          SLC22A2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490940747 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            6:160234861 (GRCh38)
            6:160655893 (GRCh37)
            Canonical SPDI:
            NC_000006.12:160234860:C:T
            Gene:
            SLC22A2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0./0 (KOREAN)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            ...more
            HGVS:
            6.

            rs1490854728 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              6:160219140 (GRCh38)
              6:160640172 (GRCh37)
              Canonical SPDI:
              NC_000006.12:160219139:A:G
              Gene:
              SLC22A2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.00684/20 (KOREAN)
              HGVS:
              7.

              rs1490822606 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                6:160228353 (GRCh38)
                6:160649385 (GRCh37)
                Canonical SPDI:
                NC_000006.12:160228352:C:A
                Gene:
                SLC22A2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000011/3 (TOPMED)
                ...more
                HGVS:
                8.

                rs1490738374 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  6:160243199 (GRCh38)
                  6:160664231 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:160243198:T:C
                  Gene:
                  SLC22A2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000142/2 (ALFA)
                  C=0.000014/2 (GnomAD)
                  C=0.000015/4 (TOPMED)
                  ...more
                  HGVS:
                  9.

                  rs1490686222 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GGT>- [Show Flanks]
                    Chromosome:
                    6:160242233 (GRCh38)
                    6:160663265 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:160242227:GTGGTGGT:GTGGT
                    Gene:
                    SLC22A2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GTGGT=0./0 (ALFA)
                    -=0.000007/1 (GnomAD)
                    -=0.000011/3 (TOPMED)
                    ...more
                    HGVS:
                    10.

                    rs1490573219 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      6:160242701 (GRCh38)
                      6:160663733 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:160242700:C:G
                      Gene:
                      SLC22A2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      ...more
                      HGVS:
                      11.

                      rs1490523515 has merged into rs10532482 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TATATA>-,TA,TATA,TATATATA,TATATATATA [Show Flanks]
                        Chromosome:
                        6:160241890 (GRCh38)
                        6:160662922 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:160241877:TATATATATATATATATA:TATATATATATA,NC_000006.12:160241877:TATATATATATATATATA:TATATATATATATA,NC_000006.12:160241877:TATATATATATATATATA:TATATATATATATATA,NC_000006.12:160241877:TATATATATATATATATA:TATATATATATATATATATA,NC_000006.12:160241877:TATATATATATATATATA:TATATATATATATATATATATA
                        Gene:
                        SLC22A2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TATATATATATATATATATA=0./0 (ALFA)
                        TATA=0.1821/767 (1000Genomes)
                        TATA=0.2372/914 (ALSPAC)
                        ...more
                        HGVS:
                        12.

                        rs1490494597 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          6:160222343 (GRCh38)
                          6:160643375 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:160222342:T:A
                          Gene:
                          SLC22A2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490462807 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            6:160259474 (GRCh38)
                            6:160680506 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:160259473:G:A
                            Gene:
                            SLC22A2 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490426329 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              6:160221008 (GRCh38)
                              6:160642040 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:160221007:G:C
                              Gene:
                              SLC22A2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.00003/8 (TOPMED)
                              HGVS:
                              15.

                              rs1490425499 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                6:160234022 (GRCh38)
                                6:160655054 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:160234021:T:G
                                Gene:
                                SLC22A2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000015/4 (TOPMED)
                                G=0.000021/3 (GnomAD)
                                ...more
                                HGVS:
                                16.

                                rs1490240800 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  6:160257662 (GRCh38)
                                  6:160678694 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:160257661:C:T
                                  Gene:
                                  SLC22A2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490173246 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    6:160218916 (GRCh38)
                                    6:160639948 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:160218915:C:T
                                    Gene:
                                    SLC22A2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.00051/6 (ALFA)
                                    T=0.07974/233 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1490168949 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      6:160241921 (GRCh38)
                                      6:160662953 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:160241920:T:G
                                      Gene:
                                      SLC22A2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000008/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490119948 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        6:160239748 (GRCh38)
                                        6:160660780 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:160239747:C:T
                                        Gene:
                                        SLC22A2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490071930 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          6:160220899 (GRCh38)
                                          6:160641931 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:160220898:C:T
                                          Gene:
                                          SLC22A2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:

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