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Items: 1 to 20 of 4324

1.

rs1490678725 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    21:29761403 (GRCh38)
    21:31133722 (GRCh37)
    Canonical SPDI:
    NC_000021.9:29761402:C:T
    Gene:
    GRIK1 (Varview), GRIK1-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    T=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1490531289 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,G [Show Flanks]
      Chromosome:
      21:29752245 (GRCh38)
      21:31124564 (GRCh37)
      Canonical SPDI:
      NC_000021.9:29752244:T:A,NC_000021.9:29752244:T:G
      Gene:
      GRIK1 (Varview), GRIK1-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000312/2 (1000Genomes)
      HGVS:
      3.

      rs1490396936 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        21:29754673 (GRCh38)
        21:31126992 (GRCh37)
        Canonical SPDI:
        NC_000021.9:29754672:A:C,NC_000021.9:29754672:A:G
        Gene:
        GRIK1 (Varview), GRIK1-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000008/2 (TOPMED)
        C=0.000312/2 (1000Genomes)
        HGVS:
        4.

        rs1490202115 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          21:29754326 (GRCh38)
          21:31126645 (GRCh37)
          Canonical SPDI:
          NC_000021.9:29754325:C:T
          Gene:
          GRIK1 (Varview), GRIK1-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          T=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1490124985 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            C>- [Show Flanks]
            Chromosome:
            21:29755162 (GRCh38)
            21:31127481 (GRCh37)
            Canonical SPDI:
            NC_000021.9:29755161:CC:C
            Gene:
            GRIK1 (Varview), GRIK1-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            CC=0./0 (ALFA)
            -=0.000015/4 (TOPMED)
            HGVS:
            6.

            rs1489835678 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              21:29759471 (GRCh38)
              21:31131790 (GRCh37)
              Canonical SPDI:
              NC_000021.9:29759470:A:G
              Gene:
              GRIK1 (Varview), GRIK1-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.00006/16 (TOPMED)
              G=0.000171/24 (GnomAD)
              HGVS:
              7.

              rs1489733284 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                21:29751207 (GRCh38)
                21:31123526 (GRCh37)
                Canonical SPDI:
                NC_000021.9:29751206:A:G
                Gene:
                GRIK1 (Varview), GRIK1-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000054/1 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                G=0.000223/1 (Estonian)
                HGVS:
                8.

                rs1489631503 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  21:29753318 (GRCh38)
                  21:31125637 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:29753317:T:A
                  Gene:
                  GRIK1 (Varview), GRIK1-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0./0 (GnomAD)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489600787 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    21:29760559 (GRCh38)
                    21:31132878 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:29760558:T:A
                    Gene:
                    GRIK1 (Varview), GRIK1-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489414566 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      21:29760487 (GRCh38)
                      21:31132806 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:29760486:A:C
                      Gene:
                      GRIK1 (Varview), GRIK1-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1489319952 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G [Show Flanks]
                        Chromosome:
                        21:29759144 (GRCh38)
                        21:31131463 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:29759143:A:C,NC_000021.9:29759143:A:G
                        Gene:
                        GRIK1 (Varview), GRIK1-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        C=0.000023/3 (GnomAD)
                        HGVS:
                        12.

                        rs1489249180 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          21:29750347 (GRCh38)
                          21:31122666 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:29750346:A:G
                          Gene:
                          GRIK1 (Varview), GRIK1-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1489072891 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            21:29752742 (GRCh38)
                            21:31125061 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:29752741:C:A
                            Gene:
                            GRIK1 (Varview), GRIK1-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000019/5 (TOPMED)
                            A=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1488876142 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              21:29749314 (GRCh38)
                              21:31121633 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:29749313:A:C
                              Gene:
                              GRIK1 (Varview), GRIK1-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1488747625 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                21:29752273 (GRCh38)
                                21:31124592 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:29752272:T:C
                                Gene:
                                GRIK1 (Varview), GRIK1-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1488391392 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  21:29762211 (GRCh38)
                                  21:31134530 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:29762210:C:T
                                  Gene:
                                  GRIK1 (Varview), GRIK1-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  T=0.000212/4 (TOMMO)
                                  T=0.000684/2 (KOREAN)
                                  T=0.001092/2 (Korea1K)
                                  HGVS:
                                  17.

                                  rs1487634487 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    21:29758500 (GRCh38)
                                    21:31130819 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:29758499:C:A
                                    Gene:
                                    GRIK1 (Varview), GRIK1-AS1 (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:
                                    18.

                                    rs1487620302 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      21:29757950 (GRCh38)
                                      21:31130269 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:29757949:C:A
                                      Gene:
                                      GRIK1 (Varview), GRIK1-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.0002/1 (ALFA)
                                      A=0.0002/1 (Estonian)
                                      HGVS:
                                      19.

                                      rs1487001332 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        21:29761115 (GRCh38)
                                        21:31133434 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:29761114:A:T
                                        Gene:
                                        GRIK1 (Varview), GRIK1-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486915462 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G [Show Flanks]
                                          Chromosome:
                                          21:29748411 (GRCh38)
                                          21:31120730 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:29748410:A:C,NC_000021.9:29748410:A:G
                                          Gene:
                                          GRIK1 (Varview), GRIK1-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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