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Items: 1 to 20 of 584

1.

rs1489447321 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    1:19114 (GRCh38)
    1:19114 (GRCh37)
    Canonical SPDI:
    NC_000001.11:19113:C:A
    Gene:
    WASH7P (Varview), MIR6859-1 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    2.

    rs1487623136 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      1:16899 (GRCh38)
      1:16899 (GRCh37)
      Canonical SPDI:
      NC_000001.11:16898:C:G
      Gene:
      WASH7P (Varview), MIR6859-1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1485332822 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        1:17292 (GRCh38)
        1:17292 (GRCh37)
        Canonical SPDI:
        NC_000001.11:17289:CTCT:CT
        Gene:
        WASH7P (Varview), MIR6859-1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CTCT=0.000084/1 (ALFA)
        -=0.000308/43 (GnomAD)
        HGVS:
        4.

        rs1485074878 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,G [Show Flanks]
          Chromosome:
          1:17885 (GRCh38)
          1:17885 (GRCh37)
          Canonical SPDI:
          NC_000001.11:17884:T:A,NC_000001.11:17884:T:G
          Gene:
          WASH7P (Varview), MIR6859-1 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          A=0.0012/19 (TOMMO)
          A=0.00579/14 (KOREAN)
          HGVS:
          5.

          rs1484412875 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            1:19299 (GRCh38)
            1:19299 (GRCh37)
            Canonical SPDI:
            NC_000001.11:19298:G:A,NC_000001.11:19298:G:T
            Gene:
            WASH7P (Varview), MIR6859-1 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.00031/5 (ALFA)
            A=0.00007/2 (TOMMO)
            HGVS:
            6.

            rs1484365992 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GAG>- [Show Flanks]
              Chromosome:
              1:17173 (GRCh38)
              1:17173 (GRCh37)
              Canonical SPDI:
              NC_000001.11:17169:GAGGAG:GAG
              Gene:
              WASH7P (Varview), MIR6859-1 (Varview)
              Functional Consequence:
              intron_variant,downstream_transcript_variant,500B_downstream_variant
              HGVS:
              7.

              rs1484353408 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:17046 (GRCh38)
                1:17046 (GRCh37)
                Canonical SPDI:
                NC_000001.11:17045:T:C
                Gene:
                WASH7P (Varview), MIR6859-1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000253/3 (ALFA)
                C=0.0001/14 (GnomAD)
                HGVS:
                8.

                rs1483728811 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  1:17971 (GRCh38)
                  1:17971 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:17970:G:A,NC_000001.11:17970:G:T
                  Gene:
                  WASH7P (Varview), MIR6859-1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.00017/2 (ALFA)
                  A=0.00063/4 (GnomAD)
                  A=0.00219/14 (1000Genomes)
                  HGVS:
                  9.

                  rs1483436779 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:17598 (GRCh38)
                    1:17598 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:17597:G:A
                    Gene:
                    WASH7P (Varview), MIR6859-1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1482748587 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:19234 (GRCh38)
                      1:19234 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:19233:A:G
                      Gene:
                      WASH7P (Varview), MIR6859-1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000084/1 (ALFA)
                      G=0.000176/24 (GnomAD)
                      G=0.003333/2 (NorthernSweden)
                      HGVS:
                      11.

                      rs1482318293 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        1:17438 (GRCh38)
                        1:17438 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:17437:C:A,NC_000001.11:17437:C:T
                        Gene:
                        WASH7P (Varview), MIR6859-1 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1482065628 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          1:18469 (GRCh38)
                          1:18469 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:18468:C:G
                          Gene:
                          WASH7P (Varview), MIR6859-1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,intron_variant,upstream_transcript_variant
                          HGVS:
                          13.

                          rs1481832234 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:17970 (GRCh38)
                            1:17970 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:17969:C:T
                            Gene:
                            WASH7P (Varview), MIR6859-1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.00031/2 (1000Genomes)
                            HGVS:
                            14.

                            rs1480462488 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G,T [Show Flanks]
                              Chromosome:
                              1:19229 (GRCh38)
                              1:19229 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:19228:C:A,NC_000001.11:19228:C:G,NC_000001.11:19228:C:T
                              Gene:
                              WASH7P (Varview), MIR6859-1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1479646528 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:17497 (GRCh38)
                                1:17497 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:17496:C:T
                                Gene:
                                WASH7P (Varview), MIR6859-1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000036/5 (GnomAD)
                                HGVS:
                                16.

                                rs1478041193 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  1:17750 (GRCh38)
                                  1:17750 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:17749:G:A,NC_000001.11:17749:G:T
                                  Gene:
                                  WASH7P (Varview), MIR6859-1 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  A=0.000089/12 (GnomAD)
                                  A=0.000468/3 (1000Genomes)
                                  G=0.5/4 (SGDP_PRJ)
                                  HGVS:
                                  17.

                                  rs1478000630 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:17388 (GRCh38)
                                    1:17388 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:17387:G:A
                                    Gene:
                                    WASH7P (Varview), MIR6859-1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1477382583 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      1:19392 (GRCh38)
                                      1:19392 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:19391:C:A,NC_000001.11:19391:C:T
                                      Gene:
                                      WASH7P (Varview), MIR6859-1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.00101/12 (ALFA)
                                      A=0.00001/1 (GnomAD)
                                      T=0.00018/3 (TOMMO)
                                      T=0.00212/6 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1475804548 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G,T [Show Flanks]
                                        Chromosome:
                                        1:17474 (GRCh38)
                                        1:17474 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:17473:C:A,NC_000001.11:17473:C:G,NC_000001.11:17473:C:T
                                        Gene:
                                        WASH7P (Varview), MIR6859-1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000051/1 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1475636397 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          1:17441 (GRCh38)
                                          1:17441 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:17440:C:G
                                          Gene:
                                          WASH7P (Varview), MIR6859-1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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