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Items: 1 to 20 of 1422

1.

rs1490612087 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:136982452 (GRCh38)
    9:139876904 (GRCh37)
    Canonical SPDI:
    NC_000009.12:136982451:C:T
    Gene:
    LCNL1 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000014/2 (GnomAD)
    T=0.000015/4 (TOPMED)
    HGVS:
    2.

    rs1490262770 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      9:136981829 (GRCh38)
      9:139876281 (GRCh37)
      Canonical SPDI:
      NC_000009.12:136981828:T:G
      Gene:
      PTGDS (Varview), LCNL1 (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490120545 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:136982822 (GRCh38)
        9:139877274 (GRCh37)
        Canonical SPDI:
        NC_000009.12:136982821:G:A
        Gene:
        LCNL1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1489750220 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:136982305 (GRCh38)
          9:139876757 (GRCh37)
          Canonical SPDI:
          NC_000009.12:136982304:G:A
          Gene:
          LCNL1 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1489711560 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            C>-,CC [Show Flanks]
            Chromosome:
            9:136986173 (GRCh38)
            9:139880625 (GRCh37)
            Canonical SPDI:
            NC_000009.12:136986172:CCCC:CCC,NC_000009.12:136986172:CCCC:CCCCC
            Gene:
            LCNL1 (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CCCCC=0./0 (ALFA)
            -=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1489475527 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:136983275 (GRCh38)
              9:139877727 (GRCh37)
              Canonical SPDI:
              NC_000009.12:136983274:G:A
              Gene:
              LCNL1 (Varview)
              Functional Consequence:
              5_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)
              HGVS:
              7.

              rs1489015305 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                9:136983395 (GRCh38)
                9:139877847 (GRCh37)
                Canonical SPDI:
                NC_000009.12:136983394:G:A
                Gene:
                LCNL1 (Varview)
                Functional Consequence:
                5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                A=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1488490868 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:136983731 (GRCh38)
                  9:139878183 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:136983730:C:T
                  Gene:
                  LCNL1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1487062640 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    9:136984179 (GRCh38)
                    9:139878631 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:136984178:C:G,NC_000009.12:136984178:C:T
                    Gene:
                    LCNL1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1486343477 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      9:136982716 (GRCh38)
                      9:139877168 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:136982715:A:G
                      Gene:
                      LCNL1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1486172133 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        9:136982596 (GRCh38)
                        9:139877048 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:136982595:G:A
                        Gene:
                        LCNL1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1485898556 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          9:136985273 (GRCh38)
                          9:139879725 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:136985272:C:A,NC_000009.12:136985272:C:T
                          Gene:
                          LCNL1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1485419814 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            9:136983350 (GRCh38)
                            9:139877802 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:136983349:G:A,NC_000009.12:136983349:G:C
                            Gene:
                            LCNL1 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            A=0.00007/2 (TOMMO)
                            HGVS:
                            14.

                            rs1485224306 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              9:136982271 (GRCh38)
                              9:139876723 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:136982270:G:T
                              Gene:
                              LCNL1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1485134280 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                9:136985298 (GRCh38)
                                9:139879750 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:136985297:G:A
                                Gene:
                                LCNL1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1484640448 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  9:136984761 (GRCh38)
                                  9:139879213 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:136984760:T:C
                                  Gene:
                                  LCNL1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  HGVS:
                                  17.

                                  rs1484612166 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->CCCAGC [Show Flanks]
                                    Chromosome:
                                    9:136985925 (GRCh38)
                                    9:139880378 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:136985925:GCCCCAGCCCCAGC:GCCCCAGCCCCAGCCCCAGC
                                    Gene:
                                    LCNL1 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GCCCCAGCCCCAGCCCCAGC=0.000071/1 (ALFA)
                                    GCCCCA=0.000007/1 (GnomAD)
                                    GCCCCA=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1483420318 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:136984832 (GRCh38)
                                      9:139879284 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:136984831:G:A
                                      Gene:
                                      LCNL1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1481150268 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        9:136981542 (GRCh38)
                                        9:139875994 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:136981541:C:T
                                        Gene:
                                        PTGDS (Varview), LCNL1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1481099882 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          9:136981636 (GRCh38)
                                          9:139876088 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:136981635:T:A
                                          Gene:
                                          PTGDS (Varview), LCNL1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:

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