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Items: 1 to 20 of 1000

1.

rs1491523273 has merged into rs1211162236 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,TTTT,TTTTT [Show Flanks]
    Chromosome:
    6:52980309 (GRCh38)
    6:52845107 (GRCh37)
    Canonical SPDI:
    NC_000006.12:52980307:TTT:T,NC_000006.12:52980307:TTT:TTTTT,NC_000006.12:52980307:TTT:TTTTTT
    Gene:
    GSTA4 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTT=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491472895 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AA>- [Show Flanks]
      Chromosome:
      6:52997120 (GRCh38)
      6:52861918 (GRCh37)
      Canonical SPDI:
      NC_000006.12:52997119:AA:
      Gene:
      GSTA4 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491458205 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TA [Show Flanks]
        Chromosome:
        6:52997120 (GRCh38)
        6:52861919 (GRCh37)
        Canonical SPDI:
        NC_000006.12:52997120:A:ATA
        Gene:
        GSTA4 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        ATA=0./0 (ALFA)
        AT=0.00002/2 (GnomAD)
        HGVS:
        4.

        rs1491047996 has merged into rs67390777 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
          Chromosome:
          6:52982363 (GRCh38)
          6:52847161 (GRCh37)
          Canonical SPDI:
          NC_000006.12:52982352:AAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:52982352:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:52982352:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:52982352:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:52982352:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
          Gene:
          GSTA4 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAA=0./0 (ALFA)
          A=0.0974/297 (1000Genomes)
          HGVS:
          5.

          rs1490827483 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            A>- [Show Flanks]
            Chromosome:
            6:52992205 (GRCh38)
            6:52857003 (GRCh37)
            Canonical SPDI:
            NC_000006.12:52992204:AAA:AA
            Gene:
            GSTA4 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AA=0./0 (ALFA)
            -=0.000014/2 (GnomAD)
            -=0.000064/17 (TOPMED)
            HGVS:
            6.

            rs1490803350 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:52994020 (GRCh38)
              6:52858818 (GRCh37)
              Canonical SPDI:
              NC_000006.12:52994019:G:A
              Gene:
              GSTA4 (Varview), RN7SK (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000224/1 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000223/1 (Estonian)
              HGVS:
              7.

              rs1490663488 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                6:52991165 (GRCh38)
                6:52855963 (GRCh37)
                Canonical SPDI:
                NC_000006.12:52991164:C:T
                Gene:
                GSTA4 (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)
                HGVS:
                8.

                rs1490585310 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  6:52988954 (GRCh38)
                  6:52853752 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:52988953:C:A,NC_000006.12:52988953:C:T
                  Gene:
                  GSTA4 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  A=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1490541242 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    6:52991821 (GRCh38)
                    6:52856619 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:52991820:A:C
                    Gene:
                    GSTA4 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000015/2 (GnomAD)
                    HGVS:
                    10.

                    rs1490353423 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CAA>- [Show Flanks]
                      Chromosome:
                      6:52993374 (GRCh38)
                      6:52858172 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:52993373:CAA:
                      Gene:
                      GSTA4 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000011/3 (TOPMED)
                      -=0.000029/4 (GnomAD)
                      HGVS:
                      11.

                      rs1490335094 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:52993337 (GRCh38)
                        6:52858135 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:52993336:G:A
                        Gene:
                        GSTA4 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000011/3 (TOPMED)
                        A=0.000029/4 (GnomAD)
                        A=0.000035/1 (TOMMO)
                        A=0.001369/4 (KOREAN)
                        A=0.003275/6 (Korea1K)
                        HGVS:
                        12.

                        rs1490268185 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          6:52991918 (GRCh38)
                          6:52856716 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:52991917:A:G
                          Gene:
                          GSTA4 (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)
                          HGVS:
                          13.

                          rs1490059378 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            6:52995476 (GRCh38)
                            6:52860274 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:52995475:G:A,NC_000006.12:52995475:G:C
                            Gene:
                            GSTA4 (Varview), RN7SK (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489897645 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:52994640 (GRCh38)
                              6:52859438 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:52994639:G:A
                              Gene:
                              GSTA4 (Varview), RN7SK (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.0002/1 (ALFA)
                              A=0.0002/1 (Estonian)
                              HGVS:
                              15.

                              rs1489771094 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                6:52985055 (GRCh38)
                                6:52849853 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:52985054:A:T
                                Gene:
                                GSTA4 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1489744514 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->CTTCGGTCAAGGG,CTTCGGTCAAGGGTATACGAG,CTTCGGTCAAGGGTATACGAGTAGCTGCGCTCCCCTGC [Show Flanks]
                                  Chromosome:
                                  6:52995971 (GRCh38)
                                  6:52860770 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:52995971::CTTCGGTCAAGGG,NC_000006.12:52995971::CTTCGGTCAAGGGTATACGAG,NC_000006.12:52995971::CTTCGGTCAAGGGTATACGAGTAGCTGCGCTCCCCTGC
                                  Gene:
                                  GSTA4 (Varview), RN7SK (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CTTCGGTCAAGGGTATACGAG=0.0031/14 (ALFA)
                                  HGVS:
                                  17.

                                  rs1489693585 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:52997009 (GRCh38)
                                    6:52861807 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:52997008:A:G
                                    Gene:
                                    GSTA4 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489478080 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      6:52994958 (GRCh38)
                                      6:52859756 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:52994957:G:A
                                      Gene:
                                      GSTA4 (Varview), RN7SK (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489418203 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:52993955 (GRCh38)
                                        6:52858753 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:52993954:A:G
                                        Gene:
                                        GSTA4 (Varview), RN7SK (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489386898 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          6:52995021 (GRCh38)
                                          6:52859819 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:52995020:A:T
                                          Gene:
                                          GSTA4 (Varview), RN7SK (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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