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Items: 1 to 20 of 1000

1.

rs1490855817 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    8:142615053 (GRCh38)
    8:143696414 (GRCh37)
    Canonical SPDI:
    NC_000008.11:142615052:C:T
    Gene:
    ARC (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000029/4 (GnomAD)
    HGVS:
    2.

    rs1490411246 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      8:142611571 (GRCh38)
      8:143692932 (GRCh37)
      Canonical SPDI:
      NC_000008.11:142611570:C:T
      Gene:
      ARC (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1489426720 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        8:142613550 (GRCh38)
        8:143694911 (GRCh37)
        Canonical SPDI:
        NC_000008.11:142613549:T:C
        Gene:
        ARC (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000063/2 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000008/2 (GnomAD_exomes)
        C=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1488960239 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          8:142613160 (GRCh38)
          8:143694521 (GRCh37)
          Canonical SPDI:
          NC_000008.11:142613159:G:A,NC_000008.11:142613159:G:T
          Gene:
          ARC (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          A=0.000009/2 (GnomAD_exomes)
          HGVS:
          5.

          rs1488889259 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            8:142615844 (GRCh38)
            8:143697205 (GRCh37)
            Canonical SPDI:
            NC_000008.11:142615843:C:A,NC_000008.11:142615843:C:T
            Gene:
            ARC (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1488345802 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              C>- [Show Flanks]
              Chromosome:
              8:142615941 (GRCh38)
              8:143697302 (GRCh37)
              Canonical SPDI:
              NC_000008.11:142615940:CCCCCC:CCCCC
              Gene:
              ARC (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CCCCC=0./0 (ALFA)
              -=0.000011/3 (TOPMED)
              -=0.000016/1 (GnomAD)
              HGVS:
              7.

              rs1488077217 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                8:142611908 (GRCh38)
                8:143693269 (GRCh37)
                Canonical SPDI:
                NC_000008.11:142611907:G:A
                Gene:
                ARC (Varview)
                Functional Consequence:
                intron_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                A=0.000156/1 (1000Genomes)
                HGVS:
                8.

                rs1487639981 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  8:142614293 (GRCh38)
                  8:143695654 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:142614292:G:T
                  Gene:
                  ARC (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant
                  HGVS:
                  9.

                  rs1486873149 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    8:142615101 (GRCh38)
                    8:143696462 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:142615100:G:A
                    Gene:
                    ARC (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1486848138 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      8:142614744 (GRCh38)
                      8:143696105 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:142614743:G:T
                      Gene:
                      ARC (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_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.

                      rs1486841923 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        8:142614366 (GRCh38)
                        8:143695727 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:142614365:T:G
                        Gene:
                        ARC (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1486048804 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          8:142614631 (GRCh38)
                          8:143695992 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:142614630:C:A,NC_000008.11:142614630:C:G,NC_000008.11:142614630:C:T
                          Gene:
                          ARC (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.00004/1 (TOMMO)
                          HGVS:
                          13.

                          rs1485704006 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            8:142616271 (GRCh38)
                            8:143697632 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:142616270:G:C
                            Gene:
                            ARC (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1485671243 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              8:142613673 (GRCh38)
                              8:143695034 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:142613672:C:T
                              Gene:
                              ARC (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000005/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1484875009 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GCCA>- [Show Flanks]
                                Chromosome:
                                8:142611455 (GRCh38)
                                8:143692816 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:142611453:AGCCA:A
                                Gene:
                                ARC (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1484408490 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  8:142612885 (GRCh38)
                                  8:143694246 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:142612884:G:T
                                  Gene:
                                  ARC (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1483089871 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    8:142611790 (GRCh38)
                                    8:143693151 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:142611789:G:A
                                    Gene:
                                    ARC (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1482267161 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C,T [Show Flanks]
                                      Chromosome:
                                      8:142614952 (GRCh38)
                                      8:143696313 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:142614951:G:A,NC_000008.11:142614951:G:C,NC_000008.11:142614951:G:T
                                      Gene:
                                      ARC (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1482166766 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        8:142614676 (GRCh38)
                                        8:143696037 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:142614675:G:A,NC_000008.11:142614675:G:C
                                        Gene:
                                        ARC (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1482105365 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          8:142610824 (GRCh38)
                                          8:143692185 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:142610823:C:T
                                          Gene:
                                          ARC (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:

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