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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490820239 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    19:39703680 (GRCh38)
    19:40194320 (GRCh37)
    Canonical SPDI:
    NC_000019.10:39703679:G:T
    Gene:
    LGALS14 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000015/4 (TOPMED)
    T=0.000036/5 (GnomAD)
    HGVS:
    2.

    rs1490806851 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      19:39707412 (GRCh38)
      19:40198052 (GRCh37)
      Canonical SPDI:
      NC_000019.10:39707411:C:A,NC_000019.10:39707411:C:T
      Gene:
      LGALS14 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.00004/1 (ALFA)
      HGVS:
      3.

      rs1490616085 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        19:39706666 (GRCh38)
        19:40197306 (GRCh37)
        Canonical SPDI:
        NC_000019.10:39706665:A:T
        Gene:
        LGALS14 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000008/2 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1490202862 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:39708583 (GRCh38)
          19:40199223 (GRCh37)
          Canonical SPDI:
          NC_000019.10:39708582:C:T
          Gene:
          LGALS14 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489803082 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            19:39707350 (GRCh38)
            19:40197990 (GRCh37)
            Canonical SPDI:
            NC_000019.10:39707349:T:C
            Gene:
            LGALS14 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1489573898 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              19:39708506 (GRCh38)
              19:40199146 (GRCh37)
              Canonical SPDI:
              NC_000019.10:39708505:A:G
              Gene:
              LGALS14 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1488247866 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                19:39702713 (GRCh38)
                19:40193354 (GRCh37)
                Canonical SPDI:
                NC_000019.10:39702713:TT:TTT
                Gene:
                LGALS14 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                TTT=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1487532794 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  19:39706721 (GRCh38)
                  19:40197361 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:39706720:A:G
                  Gene:
                  LGALS14 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1487003842 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:39706873 (GRCh38)
                    19:40197513 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:39706872:G:A
                    Gene:
                    LGALS14 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1486617037 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      19:39703347 (GRCh38)
                      19:40193987 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:39703346:C:A
                      Gene:
                      LGALS14 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1485272950 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AT>- [Show Flanks]
                        Chromosome:
                        19:39708243 (GRCh38)
                        19:40198883 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:39708238:ATATAT:ATAT
                        Gene:
                        LGALS14 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        ATAT=0./0 (ALFA)
                        -=0.000007/1 (GnomAD)
                        -=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1485165409 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:39704802 (GRCh38)
                          19:40195442 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:39704801:C:T
                          Gene:
                          LGALS14 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1484470083 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:39705320 (GRCh38)
                            19:40195960 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:39705319:C:T
                            Gene:
                            LGALS14 (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:
                            14.

                            rs1483928536 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              19:39708113 (GRCh38)
                              19:40198753 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:39708112:C:G
                              Gene:
                              LGALS14 (Varview)
                              Functional Consequence:
                              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:
                              15.

                              rs1483740589 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                19:39709085 (GRCh38)
                                19:40199725 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:39709084:T:C
                                Gene:
                                LGALS14 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000142/2 (ALFA)
                                C=0.000014/2 (GnomAD)
                                C=0.000026/7 (TOPMED)
                                HGVS:
                                16.

                                rs1483685125 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  19:39704941 (GRCh38)
                                  19:40195581 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:39704940:C:G
                                  Gene:
                                  LGALS14 (Varview)
                                  Functional Consequence:
                                  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:
                                  17.

                                  rs1483372513 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->T [Show Flanks]
                                    Chromosome:
                                    19:39702523 (GRCh38)
                                    19:40193164 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:39702523:T:TT
                                    Gene:
                                    LGALS14 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TT=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1483233514 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      19:39703459 (GRCh38)
                                      19:40194099 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:39703458:A:G
                                      Gene:
                                      LGALS14 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1481452314 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        19:39707103 (GRCh38)
                                        19:40197743 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:39707102:G:A
                                        Gene:
                                        LGALS14 (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:
                                        20.

                                        rs1481386804 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          19:39703494 (GRCh38)
                                          19:40194134 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:39703493:G:T
                                          Gene:
                                          LGALS14 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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