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Items: 1 to 20 of 2090

1.

rs1490790569 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    G>- [Show Flanks]
    Chromosome:
    19:39682730 (GRCh38)
    19:40173370 (GRCh37)
    Canonical SPDI:
    NC_000019.10:39682729:GGGG:GGG
    Gene:
    LGALS17A (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGG=0./0 (ALFA)
    -=0.000007/1 (GnomAD)
    -=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1490734395 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      19:39683631 (GRCh38)
      19:40174271 (GRCh37)
      Canonical SPDI:
      NC_000019.10:39683630:G:A
      Gene:
      LGALS17A (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490515506 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        19:39685653 (GRCh38)
        19:40176293 (GRCh37)
        Canonical SPDI:
        NC_000019.10:39685652:G:C
        Gene:
        LGALS17A (Varview)
        Functional Consequence:
        splice_donor_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1489690055 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          19:39681800 (GRCh38)
          19:40172440 (GRCh37)
          Canonical SPDI:
          NC_000019.10:39681799:G:C
          Gene:
          LGALS17A (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489634805 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CTC>- [Show Flanks]
            Chromosome:
            19:39686563 (GRCh38)
            19:40177203 (GRCh37)
            Canonical SPDI:
            NC_000019.10:39686559:CTCCTC:CTC
            Gene:
            LGALS17A (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CTCCTC=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1489602254 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              19:39684490 (GRCh38)
              19:40175130 (GRCh37)
              Canonical SPDI:
              NC_000019.10:39684487:CACA:CA
              Gene:
              LGALS17A (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              CACA=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1488530586 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                19:39681785 (GRCh38)
                19:40172425 (GRCh37)
                Canonical SPDI:
                NC_000019.10:39681784:C:A
                Gene:
                LGALS17A (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.00007/1 (ALFA)
                HGVS:
                8.

                rs1488480146 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  19:39680852 (GRCh38)
                  19:40171492 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:39680851:A:T
                  Gene:
                  LGALS17A (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1488461775 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:39677733 (GRCh38)
                    19:40168373 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:39677732:G:A
                    Gene:
                    LGALS17A (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1488236092 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      TGCAG>- [Show Flanks]
                      Chromosome:
                      19:39681622 (GRCh38)
                      19:40172262 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:39681621:TGCAG:
                      Gene:
                      LGALS17A (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000008/2 (TOPMED)
                      -=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1488115117 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        19:39686214 (GRCh38)
                        19:40176854 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:39686213:C:G
                        Gene:
                        LGALS17A (Varview)
                        Functional Consequence:
                        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:
                        12.

                        rs1488094172 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          19:39683240 (GRCh38)
                          19:40173880 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:39683239:T:C
                          Gene:
                          LGALS17A (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000009/1 (GnomAD)
                          HGVS:
                          13.

                          rs1486901538 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:39678627 (GRCh38)
                            19:40169267 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:39678626:G:A
                            Gene:
                            LGALS17A (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000142/2 (ALFA)
                            A=0.000011/3 (TOPMED)
                            A=0.000036/5 (GnomAD)
                            HGVS:
                            14.

                            rs1486852218 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              19:39683274 (GRCh38)
                              19:40173914 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:39683273:G:T
                              Gene:
                              LGALS17A (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.00055/9 (ALFA)
                              T=0.00179/8 (Estonian)
                              HGVS:
                              15.

                              rs1486118867 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                19:39680024 (GRCh38)
                                19:40170664 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:39680023:CCC:CC
                                Gene:
                                LGALS17A (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CC=0./0 (ALFA)
                                -=0.000007/1 (GnomAD)
                                -=0.000026/7 (TOPMED)
                                -=0.000106/2 (TOMMO)
                                HGVS:
                                16.

                                rs1486016652 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  19:39684514 (GRCh38)
                                  19:40175154 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:39684513:A:G
                                  Gene:
                                  LGALS17A (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1485666952 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:39680257 (GRCh38)
                                    19:40170897 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:39680256:C:T
                                    Gene:
                                    LGALS17A (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000015/4 (TOPMED)
                                    T=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485612567 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      19:39684160 (GRCh38)
                                      19:40174800 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:39684159:A:T
                                      Gene:
                                      LGALS17A (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000546/1 (Korea1K)
                                      HGVS:
                                      19.

                                      rs1485524436 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        19:39678079 (GRCh38)
                                        19:40168719 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:39678078:C:T
                                        Gene:
                                        LGALS17A (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000019/5 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1485316025 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          19:39680115 (GRCh38)
                                          19:40170755 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:39680114:C:A
                                          Gene:
                                          LGALS17A (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:

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