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Items: 1 to 20 of 4371

1.

rs1490954013 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:16205574 (GRCh38)
    1:16532069 (GRCh37)
    Canonical SPDI:
    NC_000001.11:16205573:G:A
    Gene:
    ARHGEF19 (Varview)
    Functional Consequence:
    intron_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490548951 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      1:16209720 (GRCh38)
      1:16536215 (GRCh37)
      Canonical SPDI:
      NC_000001.11:16209719:C:A
      Gene:
      ARHGEF19 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490380108 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:16203354 (GRCh38)
        1:16529849 (GRCh37)
        Canonical SPDI:
        NC_000001.11:16203353:A:G
        Gene:
        ARHGEF19 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        G=0.000029/4 (GnomAD)
        HGVS:
        4.

        rs1489971913 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:16208190 (GRCh38)
          1:16534685 (GRCh37)
          Canonical SPDI:
          NC_000001.11:16208189:G:A
          Gene:
          ARHGEF19 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000011/3 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1489750381 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:16205180 (GRCh38)
            1:16531675 (GRCh37)
            Canonical SPDI:
            NC_000001.11:16205179:G:A
            Gene:
            ARHGEF19 (Varview)
            Functional Consequence:
            intron_variant
            HGVS:
            6.

            rs1489650738 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:16211101 (GRCh38)
              1:16537596 (GRCh37)
              Canonical SPDI:
              NC_000001.11:16211100:G:A
              Gene:
              ARHGEF19 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1489552890 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CT>- [Show Flanks]
                Chromosome:
                1:16202197 (GRCh38)
                1:16528692 (GRCh37)
                Canonical SPDI:
                NC_000001.11:16202196:CT:
                Gene:
                ARHGEF19 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000007/1 (GnomAD)
                -=0.000035/1 (TOMMO)
                -=0.000546/1 (Korea1K)
                HGVS:
                8.

                rs1489399795 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:16209220 (GRCh38)
                  1:16535715 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:16209219:A:G
                  Gene:
                  ARHGEF19 (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:
                  9.

                  rs1489281283 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:16197548 (GRCh38)
                    1:16524043 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:16197547:A:G
                    Gene:
                    ARHGEF19 (Varview)
                    Functional Consequence:
                    500B_downstream_variant,downstream_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:
                    10.

                    rs1489099705 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:16208870 (GRCh38)
                      1:16535365 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:16208869:C:T
                      Gene:
                      ARHGEF19 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489074625 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:16206012 (GRCh38)
                        1:16532507 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:16206011:T:C
                        Gene:
                        ARHGEF19 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        HGVS:
                        12.

                        rs1489014248 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          1:16206518 (GRCh38)
                          1:16533013 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:16206517:A:T
                          Gene:
                          ARHGEF19 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.00008/6 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1488998552 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:16200635 (GRCh38)
                            1:16527130 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:16200634:T:C
                            Gene:
                            ARHGEF19 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1488821898 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              1:16210832 (GRCh38)
                              1:16537327 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:16210831:G:A,NC_000001.11:16210831:G:C
                              Gene:
                              ARHGEF19 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000014/2 (GnomAD)
                              C=0.000042/11 (TOPMED)
                              C=0.000142/2 (TOMMO)
                              C=0.000546/1 (Korea1K)
                              HGVS:
                              15.

                              rs1488689252 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:16206267 (GRCh38)
                                1:16532762 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:16206266:C:T
                                Gene:
                                ARHGEF19 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                HGVS:
                                16.

                                rs1488465275 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  1:16212626 (GRCh38)
                                  1:16539121 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:16212625:A:T
                                  Gene:
                                  ARHGEF19 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,5_prime_UTR_variant
                                  HGVS:
                                  17.

                                  rs1488440747 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    1:16206570 (GRCh38)
                                    1:16533065 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:16206569:T:C,NC_000001.11:16206569:T:G
                                    Gene:
                                    ARHGEF19 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.00006/3 (GnomAD_exomes)
                                    G=0.01232/35 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1488206166 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GA>- [Show Flanks]
                                      Chromosome:
                                      1:16213000 (GRCh38)
                                      1:16539495 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:16212997:GAGA:GA
                                      Gene:
                                      ARHGEF19 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GAGA=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488047674 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CTGACACC>- [Show Flanks]
                                        Chromosome:
                                        1:16202197 (GRCh38)
                                        1:16528692 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:16202194:CCCTGACACC:CC
                                        Gene:
                                        ARHGEF19 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CC=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487677460 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:16205223 (GRCh38)
                                          1:16531718 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:16205222:C:T
                                          Gene:
                                          ARHGEF19 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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