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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491441726 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    17:43851133 (GRCh38)
    17:41928501 (GRCh37)
    Canonical SPDI:
    NC_000017.11:43851132:CA:
    Gene:
    CD300LG (Varview), LOC107985077 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00059/7 (ALFA)
    HGVS:
    2.

    rs1490974681 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      17:43854786 (GRCh38)
      17:41932154 (GRCh37)
      Canonical SPDI:
      NC_000017.11:43854785:T:C
      Gene:
      CD300LG (Varview), LOC107985077 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,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:
      4.

      rs1490427899 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        17:43853793 (GRCh38)
        17:41931161 (GRCh37)
        Canonical SPDI:
        NC_000017.11:43853792:T:C
        Gene:
        CD300LG (Varview), LOC107985077 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000066/1 (ALFA)
        C=0.000014/2 (GnomAD)
        C=0.000223/1 (Estonian)
        HGVS:
        5.

        rs1490143579 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          17:43845479 (GRCh38)
          17:41922847 (GRCh37)
          Canonical SPDI:
          NC_000017.11:43845478:A:G
          Gene:
          CD300LG (Varview), LOC107984979 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:
          6.

          rs1490117246 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:43855179 (GRCh38)
            17:41932547 (GRCh37)
            Canonical SPDI:
            NC_000017.11:43855178:C:T
            Gene:
            CD300LG (Varview), LOC107985077 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            HGVS:
            7.

            rs1489979715 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              17:43848539 (GRCh38)
              17:41925907 (GRCh37)
              Canonical SPDI:
              NC_000017.11:43848538:A:G
              Gene:
              CD300LG (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              8.
              9.

              rs1489666848 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:43846522 (GRCh38)
                17:41923890 (GRCh37)
                Canonical SPDI:
                NC_000017.11:43846521:C:T
                Gene:
                CD300LG (Varview), LOC107984979 (Varview)
                Functional Consequence:
                downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                10.

                rs1489559198 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  17:43856955 (GRCh38)
                  17:41934323 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:43856954:G:C
                  Gene:
                  CD300LG (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000015/4 (TOPMED)
                  HGVS:
                  11.

                  rs1489369786 has merged into rs1191783008 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GAAG>-,GAAGGAAG [Show Flanks]
                    Chromosome:
                    17:43860973 (GRCh38)
                    17:41938341 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:43860962:AGGAAGGAAGGAAG:AGGAAGGAAG,NC_000017.11:43860962:AGGAAGGAAGGAAG:AGGAAGGAAGGAAGGAAG
                    Gene:
                    CD300LG (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AGGAAGGAAGGAAGGAAG=0./0 (ALFA)
                    AGGA=0.000007/1 (GnomAD)
                    AGGA=0.000015/4 (TOPMED)
                    HGVS:
                    12.

                    rs1489297857 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:43859722 (GRCh38)
                      17:41937090 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:43859721:C:T
                      Gene:
                      CD300LG (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      13.

                      rs1489259353 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        17:43852332 (GRCh38)
                        17:41929700 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:43852331:A:G
                        Gene:
                        CD300LG (Varview), LOC107985077 (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)
                        G=0.000156/1 (1000Genomes)
                        HGVS:
                        14.

                        rs1489248231 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          17:43851709 (GRCh38)
                          17:41929077 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:43851708:C:G,NC_000017.11:43851708:C:T
                          Gene:
                          CD300LG (Varview), LOC107985077 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000084/1 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          15.

                          rs1489156391 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            17:43851627 (GRCh38)
                            17:41928995 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:43851626:A:C
                            Gene:
                            CD300LG (Varview), LOC107985077 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            16.

                            rs1488778747 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:43849855 (GRCh38)
                              17:41927223 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:43849854:C:T
                              Gene:
                              CD300LG (Varview), LOC107985077 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.0013/6 (ALFA)
                              T=0.0011/5 (Estonian)
                              HGVS:
                              17.

                              rs1488318231 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                17:43859229 (GRCh38)
                                17:41936597 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:43859228:A:T
                                Gene:
                                CD300LG (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                18.

                                rs1488101279 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  17:43847896 (GRCh38)
                                  17:41925264 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:43847895:A:G
                                  Gene:
                                  CD300LG (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000224/1 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000223/1 (Estonian)
                                  HGVS:
                                  19.

                                  rs1487698823 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:43849506 (GRCh38)
                                    17:41926874 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:43849505:G:A
                                    Gene:
                                    CD300LG (Varview), LOC107985077 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    20.

                                    rs1487658251 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      17:43860188 (GRCh38)
                                      17:41937556 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:43860187:C:G
                                      Gene:
                                      CD300LG (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:

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