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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490929664 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:118344712 (GRCh38)
    11:118215427 (GRCh37)
    Canonical SPDI:
    NC_000011.10:118344711:C:T
    Gene:
    CD3G (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1490919193 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      11:118343948 (GRCh38)
      11:118214663 (GRCh37)
      Canonical SPDI:
      NC_000011.10:118343947:G:C
      Gene:
      CD3D (Varview), CD3G (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000071/1 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490426992 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        11:118345344 (GRCh38)
        11:118216059 (GRCh37)
        Canonical SPDI:
        NC_000011.10:118345343:G:A,NC_000011.10:118345343:G:T
        Gene:
        CD3G (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        HGVS:
        4.

        rs1490317237 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ACAGGTGAA>- [Show Flanks]
          Chromosome:
          11:118351982 (GRCh38)
          11:118222697 (GRCh37)
          Canonical SPDI:
          NC_000011.10:118351979:AAACAGGTGAA:AA
          Gene:
          CD3G (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          AA=0.000071/1 (ALFA)
          -=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490250513 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            11:118351091 (GRCh38)
            11:118221806 (GRCh37)
            Canonical SPDI:
            NC_000011.10:118351090:G:A
            Gene:
            CD3G (Varview)
            Functional Consequence:
            3_prime_UTR_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490128088 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              11:118345439 (GRCh38)
              11:118216154 (GRCh37)
              Canonical SPDI:
              NC_000011.10:118345438:G:C
              Gene:
              CD3G (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489032915 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:118347262 (GRCh38)
                11:118217977 (GRCh37)
                Canonical SPDI:
                NC_000011.10:118347261:C:T
                Gene:
                CD3G (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1489002581 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:118350249 (GRCh38)
                  11:118220964 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:118350248:G:A
                  Gene:
                  CD3G (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000021/3 (GnomAD)
                  A=0.00003/8 (TOPMED)
                  HGVS:
                  9.

                  rs1488874219 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    11:118351106 (GRCh38)
                    11:118221821 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:118351105:T:C
                    Gene:
                    CD3G (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1488787784 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      11:118350491 (GRCh38)
                      11:118221206 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:118350490:A:G
                      Gene:
                      CD3G (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.00003/8 (TOPMED)
                      G=0.00005/7 (GnomAD)
                      HGVS:
                      11.

                      rs1488773442 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        11:118350368 (GRCh38)
                        11:118221083 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:118350367:C:A
                        Gene:
                        CD3G (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1488156729 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:118347833 (GRCh38)
                          11:118218548 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:118347832:C:T
                          Gene:
                          CD3G (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.0002/1 (ALFA)
                          T=0.0002/1 (Estonian)
                          HGVS:
                          13.

                          rs1488145723 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:118342761 (GRCh38)
                            11:118213476 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:118342760:G:A
                            Gene:
                            CD3D (Varview), CD3G (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:
                            14.

                            rs1488103644 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              11:118343129 (GRCh38)
                              11:118213844 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:118343128:C:G,NC_000011.10:118343128:C:T
                              Gene:
                              CD3D (Varview), CD3G (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1487717709 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:118344847 (GRCh38)
                                11:118215562 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:118344846:A:G
                                Gene:
                                CD3G (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                G=0.000546/1 (Korea1K)
                                HGVS:
                                16.

                                rs1487236841 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  11:118347884 (GRCh38)
                                  11:118218599 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:118347883:G:T
                                  Gene:
                                  CD3G (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  HGVS:
                                  17.

                                  rs1487069419 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:118348519 (GRCh38)
                                    11:118219234 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:118348518:C:T
                                    Gene:
                                    CD3G (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:
                                    18.

                                    rs1487042472 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:118344919 (GRCh38)
                                      11:118215634 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:118344918:G:A
                                      Gene:
                                      CD3G (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486861169 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        11:118345461 (GRCh38)
                                        11:118216176 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:118345460:T:C
                                        Gene:
                                        CD3G (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1486605788 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:118349656 (GRCh38)
                                          11:118220371 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:118349655:A:G
                                          Gene:
                                          CD3G (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:

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