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Links from Nucleotide

Items: 1 to 20 of 93

1.

rs1489594424 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    11:126681884 (GRCh38)
    11:126551779 (GRCh37)
    Canonical SPDI:
    NC_000011.10:126681883:T:G
    Gene:
    KIRREL3 (Varview), LOC101929427 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000011/3 (TOPMED)
    G=0.000014/2 (GnomAD)
    G=0.000023/3 (GnomAD_exomes)
    G=0.001092/2 (Korea1K)
    G=0.001203/20 (TOMMO)
    G=0.001711/5 (KOREAN)
    HGVS:
    2.

    rs1483843822 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      11:126656128 (GRCh38)
      11:126526023 (GRCh37)
      Canonical SPDI:
      NC_000011.10:126656127:T:A
      Gene:
      KIRREL3 (Varview), LOC101929427 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
      HGVS:
      3.

      rs1481592185 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:126681965 (GRCh38)
        11:126551860 (GRCh37)
        Canonical SPDI:
        NC_000011.10:126681964:G:A
        Gene:
        KIRREL3 (Varview), LOC101929427 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1475291751 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:126681943 (GRCh38)
          11:126551838 (GRCh37)
          Canonical SPDI:
          NC_000011.10:126681942:A:G
          Gene:
          KIRREL3 (Varview), LOC101929427 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant,non_coding_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:
          5.

          rs1467057211 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            11:126681885 (GRCh38)
            11:126551780 (GRCh37)
            Canonical SPDI:
            NC_000011.10:126681884:G:A,NC_000011.10:126681884:G:T
            Gene:
            KIRREL3 (Varview), LOC101929427 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.000008/1 (GnomAD_exomes)
            A=0.000008/2 (TOPMED)
            A=0.000156/1 (1000Genomes)
            HGVS:
            6.

            rs1465047499 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:126681790 (GRCh38)
              11:126551685 (GRCh37)
              Canonical SPDI:
              NC_000011.10:126681789:T:C
              Gene:
              KIRREL3 (Varview), LOC101929427 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000048/1 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              C=0.000009/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1459150338 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                11:126681929 (GRCh38)
                11:126551824 (GRCh37)
                Canonical SPDI:
                NC_000011.10:126681928:A:T
                Gene:
                KIRREL3 (Varview), LOC101929427 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                T=0.000008/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1458116973 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:126681981 (GRCh38)
                  11:126551876 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:126681980:G:A
                  Gene:
                  KIRREL3 (Varview), LOC101929427 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1457574565 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:126656142 (GRCh38)
                    11:126526037 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:126656141:C:T
                    Gene:
                    KIRREL3 (Varview), LOC101929427 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000008/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1456245749 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:126681804 (GRCh38)
                      11:126551699 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:126681803:T:C
                      Gene:
                      KIRREL3 (Varview), LOC101929427 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000017/2 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1453049196 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        11:126681825 (GRCh38)
                        11:126551720 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:126681824:A:G
                        Gene:
                        KIRREL3 (Varview), LOC101929427 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1452812562 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:126656168 (GRCh38)
                          11:126526063 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:126656167:G:A
                          Gene:
                          KIRREL3 (Varview), LOC101929427 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000008/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1447795758 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            11:126682098 (GRCh38)
                            11:126551993 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:126682097:C:T
                            Gene:
                            KIRREL3 (Varview), LOC101929427 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000015/4 (TOPMED)
                            T=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1445155363 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:126656149 (GRCh38)
                              11:126526044 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:126656148:G:A
                              Gene:
                              KIRREL3 (Varview), LOC101929427 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1442108631 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:126682086 (GRCh38)
                                11:126551981 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:126682085:A:G
                                Gene:
                                KIRREL3 (Varview), LOC101929427 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1434973121 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C,T [Show Flanks]
                                  Chromosome:
                                  11:126681783 (GRCh38)
                                  11:126551678 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:126681782:G:C,NC_000011.10:126681782:G:T
                                  Gene:
                                  KIRREL3 (Varview), LOC101929427 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  T=0.00001/1 (GnomAD_exomes)
                                  C=0.000035/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1433758585 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    11:126656123 (GRCh38)
                                    11:126526018 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:126656122:C:G,NC_000011.10:126656122:C:T
                                    Gene:
                                    KIRREL3 (Varview), LOC101929427 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1407542986 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      11:126656102 (GRCh38)
                                      11:126525997 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:126656101:C:A,NC_000011.10:126656101:C:T
                                      Gene:
                                      KIRREL3 (Varview), LOC101929427 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1400121617 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        11:126681935 (GRCh38)
                                        11:126551830 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:126681934:T:C
                                        Gene:
                                        KIRREL3 (Varview), LOC101929427 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000008/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1398564217 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          11:126682093 (GRCh38)
                                          11:126551988 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:126682092:T:G
                                          Gene:
                                          KIRREL3 (Varview), LOC101929427 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,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:

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