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Items: 1 to 20 of 799

1.

rs1489788224 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    1:3478497 (GRCh38)
    1:3395061 (GRCh37)
    Canonical SPDI:
    NC_000001.11:3478496:C:A
    Gene:
    ARHGEF16 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1489489503 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      1:3463130 (GRCh38)
      1:3379694 (GRCh37)
      Canonical SPDI:
      NC_000001.11:3463129:G:C
      Gene:
      ARHGEF16 (Varview)
      Functional Consequence:
      missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
      HGVS:
      3.

      rs1487680185 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:3473091 (GRCh38)
        1:3389655 (GRCh37)
        Canonical SPDI:
        NC_000001.11:3473090:C:T
        Gene:
        ARHGEF16 (Varview)
        Functional Consequence:
        synonymous_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1486054504 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:3473421 (GRCh38)
          1:3389985 (GRCh37)
          Canonical SPDI:
          NC_000001.11:3473420:C:T
          Gene:
          ARHGEF16 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000049/2 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1484973107 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            1:3477956 (GRCh38)
            1:3394520 (GRCh37)
            Canonical SPDI:
            NC_000001.11:3477955:A:T
            Gene:
            ARHGEF16 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,stop_gained,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.0002/1 (ALFA)
            T=0.0002/1 (Estonian)
            HGVS:
            7.

            rs1482090358 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:3480470 (GRCh38)
              1:3397034 (GRCh37)
              Canonical SPDI:
              NC_000001.11:3480469:C:T
              Gene:
              ARHGEF16 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (TOPMED)
              HGVS:
              8.

              rs1481518314 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:3467271 (GRCh38)
                1:3383835 (GRCh37)
                Canonical SPDI:
                NC_000001.11:3467270:G:A
                Gene:
                ARHGEF16 (Varview)
                Functional Consequence:
                synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                9.

                rs1479981531 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:3475988 (GRCh38)
                  1:3392552 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:3475987:G:A
                  Gene:
                  ARHGEF16 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000158/7 (ALFA)
                  A=0.000042/11 (TOPMED)
                  A=0.000055/9 (GnomAD_exomes)
                  A=0.000064/9 (GnomAD)
                  HGVS:
                  10.

                  rs1478985616 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:3480502 (GRCh38)
                    1:3397066 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:3480501:A:G
                    Gene:
                    ARHGEF16 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    11.

                    rs1478891893 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:3463156 (GRCh38)
                      1:3379720 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:3463155:G:A
                      Gene:
                      ARHGEF16 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      12.

                      rs1478742121 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:3463492 (GRCh38)
                        1:3380056 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:3463491:C:T
                        Gene:
                        ARHGEF16 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000167/5 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000015/4 (TOPMED)
                        T=0.000025/3 (GnomAD_exomes)
                        HGVS:
                        13.

                        rs1478138649 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:3463429 (GRCh38)
                          1:3379993 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:3463428:G:A
                          Gene:
                          ARHGEF16 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          A=0.000013/2 (GnomAD_exomes)
                          HGVS:
                          16.

                          rs1466546202 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:3473502 (GRCh38)
                            1:3390066 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:3473501:C:T
                            Gene:
                            ARHGEF16 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            T=0.000035/1 (TOMMO)
                            HGVS:
                            17.

                            rs1466245760 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              1:3480585 (GRCh38)
                              1:3397149 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:3480584:T:G
                              Gene:
                              ARHGEF16 (Varview)
                              Functional Consequence:
                              stop_lost,terminator_codon_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              18.

                              rs1462238873 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                1:3467302 (GRCh38)
                                1:3383866 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:3467301:C:A,NC_000001.11:3467301:C:T
                                Gene:
                                ARHGEF16 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                T=0.000106/2 (TOMMO)
                                T=0.000546/1 (Korea1K)
                                HGVS:
                                19.

                                rs1461619094 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:3469567 (GRCh38)
                                  1:3386131 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:3469566:C:T
                                  Gene:
                                  ARHGEF16 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  20.

                                  rs1458538812 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:3477910 (GRCh38)
                                    1:3394474 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:3477909:G:A
                                    Gene:
                                    ARHGEF16 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000008/2 (GnomAD_exomes)
                                    HGVS:

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