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Items: 1 to 20 of 7728

1.

rs1491579848 has merged into rs1477936702 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GGG>-,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
    Chromosome:
    11:65239583 (GRCh38)
    11:65007054 (GRCh37)
    Canonical SPDI:
    NC_000011.10:65239577:GGGGGGGG:GGGGG,NC_000011.10:65239577:GGGGGGGG:GGGGGGG,NC_000011.10:65239577:GGGGGGGG:GGGGGGGGG,NC_000011.10:65239577:GGGGGGGG:GGGGGGGGGG,NC_000011.10:65239577:GGGGGGGG:GGGGGGGGGGG
    Gene:
    SLC22A20P (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGGGGGGGG=0./0 (ALFA)
    G=0.00024/2 (TOMMO)
    HGVS:
    2.

    rs1491567032 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TCTT,TCTTTCTT [Show Flanks]
      Chromosome:
      11:65230096 (GRCh38)
      11:64997568 (GRCh37)
      Canonical SPDI:
      NC_000011.10:65230096:CTT:CTTTCTT,NC_000011.10:65230096:CTT:CTTTCTTTCTT
      Gene:
      SLC22A20P (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CTTTCTTTCTT=0./0 (ALFA)
      CTTTCTTT=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491506828 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TATATATAT [Show Flanks]
        Chromosome:
        11:65234486 (GRCh38)
        11:65001958 (GRCh37)
        Canonical SPDI:
        NC_000011.10:65234486:TATATATAT:TATATATATTATATATAT
        Gene:
        SLC22A20P (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TATATATATTATATATAT=0./0 (ALFA)
        TATATATAT=0.00016/1 (GnomAD)
        HGVS:
        4.

        rs1491413658 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CG>- [Show Flanks]
          Chromosome:
          11:65239577 (GRCh38)
          11:65007048 (GRCh37)
          Canonical SPDI:
          NC_000011.10:65239576:CG:
          Gene:
          SLC22A20P (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.00025/3 (ALFA)
          -=0.00006/3 (GnomAD)
          -=0.00035/8 (TOMMO)
          HGVS:
          5.

          rs1491387037 has merged into rs869162382 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAA>-,AA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            11:65224375 (GRCh38)
            11:64991846 (GRCh37)
            Canonical SPDI:
            NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65224365:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            SLC22A20P (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000011.10:g.65224375_65224388del, NC_000011.10:g.65224377_65224388del, NC_000011.10:g.65224380_65224388del, NC_000011.10:g.65224383_65224388del, NC_000011.10:g.65224384_65224388del, NC_000011.10:g.65224385_65224388del, NC_000011.10:g.65224386_65224388del, NC_000011.10:g.65224387_65224388del, NC_000011.10:g.65224388del, NC_000011.10:g.65224388dup, NC_000011.10:g.65224387_65224388dup, NC_000011.10:g.65224386_65224388dup, NC_000011.10:g.65224388_65224389insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.64991846_64991859del, NC_000011.9:g.64991848_64991859del, NC_000011.9:g.64991851_64991859del, NC_000011.9:g.64991854_64991859del, NC_000011.9:g.64991855_64991859del, NC_000011.9:g.64991856_64991859del, NC_000011.9:g.64991857_64991859del, NC_000011.9:g.64991858_64991859del, NC_000011.9:g.64991859del, NC_000011.9:g.64991859dup, NC_000011.9:g.64991858_64991859dup, NC_000011.9:g.64991857_64991859dup, NC_000011.9:g.64991859_64991860insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            6.

            rs1491344084 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              11:65224365 (GRCh38)
              11:64991836 (GRCh37)
              Canonical SPDI:
              NC_000011.10:65224364:CA:
              Gene:
              SLC22A20P (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.00152/18 (ALFA)
              -=0.00093/23 (GnomAD)
              -=0.00233/63 (TOMMO)
              HGVS:
              7.

              rs1491282272 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CC>- [Show Flanks]
                Chromosome:
                11:65230096 (GRCh38)
                11:64997567 (GRCh37)
                Canonical SPDI:
                NC_000011.10:65230095:CC:
                Gene:
                SLC22A20P (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0.015898/71 (ALFA)
                -=0.000153/3 (TOMMO)
                -=0.000546/1 (Korea1K)
                -=0.017718/2328 (GnomAD)
                HGVS:
                8.

                rs1491058764 has merged into rs67392513 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ACACAC>-,AC,ACAC,ACACACAC,ACACACACAC,ACACACACACAC [Show Flanks]
                  Chromosome:
                  11:65226924 (GRCh38)
                  11:64994408 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:65226909:ACACACACACACACACACAC:ACACACACACACAC,NC_000011.10:65226909:ACACACACACACACACACAC:ACACACACACACACAC,NC_000011.10:65226909:ACACACACACACACACACAC:ACACACACACACACACAC,NC_000011.10:65226909:ACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000011.10:65226909:ACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000011.10:65226909:ACACACACACACACACACAC:ACACACACACACACACACACACACAC
                  Gene:
                  SLC22A20P (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ACACACACACACACAC=0./0 (ALFA)
                  ACAC=0.0018/9 (1000Genomes)
                  AC=0.065/39 (NorthernSweden)
                  HGVS:
                  9.

                  rs1490884623 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->TAGA [Show Flanks]
                    Chromosome:
                    11:65234230 (GRCh38)
                    11:65001702 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:65234230:ATAGA:ATAGATAGA
                    Gene:
                    SLC22A20P (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ATAGATAGA=0./0 (ALFA)
                    ATAG=0.000011/3 (TOPMED)
                    ATAG=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1490843244 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      11:65224798 (GRCh38)
                      11:64992269 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:65224797:A:C
                      Gene:
                      SLC22A20P (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000084/1 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490831502 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        11:65216892 (GRCh38)
                        11:64984363 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:65216891:A:G
                        Gene:
                        SLC22A20P (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.00834/24 (KOREAN)
                        HGVS:
                        12.

                        rs1490788433 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          C>- [Show Flanks]
                          Chromosome:
                          11:65240635 (GRCh38)
                          11:65008106 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:65240634:CC:C
                          Gene:
                          SLC22A20P (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CC=0./0 (ALFA)
                          -=0.000011/3 (TOPMED)
                          -=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1490696364 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:65242941 (GRCh38)
                            11:65010412 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:65242940:T:C
                            Gene:
                            SLC22A20P (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000011/3 (TOPMED)
                            C=0.000029/4 (GnomAD)
                            HGVS:
                            14.

                            rs1490687637 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              11:65221856 (GRCh38)
                              11:64989327 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:65221855:C:G,NC_000011.10:65221855:C:T
                              Gene:
                              SLC22A20P (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000506/6 (ALFA)
                              T=0.000352/39 (GnomAD)
                              T=0.000937/6 (1000Genomes)
                              T=0.001452/24 (TOMMO)
                              T=0.003432/10 (KOREAN)
                              HGVS:
                              15.

                              rs1490654495 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                11:65226316 (GRCh38)
                                11:64993787 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:65226315:A:T
                                Gene:
                                SLC22A20P (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                T=0.000156/1 (1000Genomes)
                                HGVS:
                                16.

                                rs1490554003 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  11:65240465 (GRCh38)
                                  11:65007936 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:65240464:G:
                                  Gene:
                                  SLC22A20P (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490308106 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    11:65242766 (GRCh38)
                                    11:65010237 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:65242765:G:A,NC_000011.10:65242765:G:T
                                    Gene:
                                    SLC22A20P (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000098/26 (TOPMED)
                                    T=0.000156/1 (1000Genomes)
                                    T=0.004034/68 (TOMMO)
                                    T=0.00616/18 (KOREAN)
                                    T=0.009825/18 (Korea1K)
                                    HGVS:
                                    18.

                                    rs1489888213 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      11:65218853 (GRCh38)
                                      11:64986324 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:65218852:T:C,NC_000011.10:65218852:T:G
                                      Gene:
                                      SLC22A20P (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489533593 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->CC [Show Flanks]
                                        Chromosome:
                                        11:65236781 (GRCh38)
                                        11:65004253 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:65236781:CCC:CCCCC
                                        Gene:
                                        SLC22A20P (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        CC=0.000012/3 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1489484648 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:65213757 (GRCh38)
                                          11:64981228 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:65213756:G:A
                                          Gene:
                                          SLC22A20P (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000011/3 (TOPMED)
                                          A=0.000021/3 (GnomAD)
                                          A=0.000106/2 (TOMMO)
                                          HGVS:

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