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Links from Gene

Items: 1 to 20 of 5632

1.

rs1491529289 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    2:106503712 (GRCh38)
    2:107120169 (GRCh37)
    Canonical SPDI:
    NC_000002.12:106503712::G
    Gene:
    CD8B2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.00072/1 (GnomAD)
    G=0.00333/2 (NorthernSweden)
    HGVS:
    2.

    rs1490715642 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      2:106490788 (GRCh38)
      2:107107244 (GRCh37)
      Canonical SPDI:
      NC_000002.12:106490787:C:T
      Gene:
      CD8B2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490684370 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        2:106504360 (GRCh38)
        2:107120816 (GRCh37)
        Canonical SPDI:
        NC_000002.12:106504359:T:A
        Gene:
        CD8B2 (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:
        4.

        rs1490662988 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:106493587 (GRCh38)
          2:107110043 (GRCh37)
          Canonical SPDI:
          NC_000002.12:106493586:C:T
          Gene:
          CD8B2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490551204 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            2:106495545 (GRCh38)
            2:107112001 (GRCh37)
            Canonical SPDI:
            NC_000002.12:106495544:T:A
            Gene:
            CD8B2 (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)
            A=0.000142/2 (TOMMO)
            A=0.001027/3 (KOREAN)
            A=0.001638/3 (Korea1K)
            HGVS:
            6.

            rs1490519375 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ACCTATTATTTCATCCC>- [Show Flanks]
              Chromosome:
              2:106504787 (GRCh38)
              2:107121243 (GRCh37)
              Canonical SPDI:
              NC_000002.12:106504774:TTATTTCATCCCACCTATTATTTCATCCC:TTATTTCATCCC
              Gene:
              CD8B2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              TTATTTCATCCC=0./0 (ALFA)
              -=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1490246585 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                2:106499619 (GRCh38)
                2:107116075 (GRCh37)
                Canonical SPDI:
                NC_000002.12:106499618:T:C
                Gene:
                CD8B2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency
                MAF:
                C=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1490194986 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  2:106503875 (GRCh38)
                  2:107120331 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:106503874:G:T
                  Gene:
                  CD8B2 (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.

                  rs1490127000 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AC>- [Show Flanks]
                    Chromosome:
                    2:106510124 (GRCh38)
                    2:107126580 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:106510122:CAC:C
                    Gene:
                    CD8B2 (Varview)
                    Functional Consequence:
                    intron_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    -=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490023133 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:106498013 (GRCh38)
                      2:107114469 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:106498012:A:G
                      Gene:
                      CD8B2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1489954429 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:106496926 (GRCh38)
                        2:107113382 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:106496925:C:T
                        Gene:
                        CD8B2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1489817213 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:106504786 (GRCh38)
                          2:107121242 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:106504785:C:T
                          Gene:
                          CD8B2 (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:
                          13.

                          rs1489766913 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:106507372 (GRCh38)
                            2:107123828 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:106507371:G:A
                            Gene:
                            CD8B2 (Varview)
                            Functional Consequence:
                            intron_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1489695536 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:106497021 (GRCh38)
                              2:107113477 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:106497020:T:C
                              Gene:
                              CD8B2 (Varview)
                              Functional Consequence:
                              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:
                              15.

                              rs1489652366 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                2:106506353 (GRCh38)
                                2:107122809 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:106506352:G:C
                                Gene:
                                CD8B2 (Varview)
                                Functional Consequence:
                                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:
                                16.

                                rs1489623143 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:106496454 (GRCh38)
                                  2:107112910 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:106496453:A:G
                                  Gene:
                                  CD8B2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  G=0.000057/15 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489531813 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->C [Show Flanks]
                                    Chromosome:
                                    2:106510647 (GRCh38)
                                    2:107127104 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:106510647:CC:CCC
                                    Gene:
                                    CD8B2 (Varview)
                                    Functional Consequence:
                                    intron_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CCC=0./0 (ALFA)
                                    C=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489489643 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      2:106495474 (GRCh38)
                                      2:107111930 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:106495473:G:T
                                      Gene:
                                      CD8B2 (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:
                                      19.

                                      rs1489416343 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:106502319 (GRCh38)
                                        2:107118775 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:106502318:A:G
                                        Gene:
                                        CD8B2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.001103/18 (ALFA)
                                        G=0.000429/53 (GnomAD)
                                        G=0.000937/6 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1489199210 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          2:106503268 (GRCh38)
                                          2:107119724 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:106503267:T:G
                                          Gene:
                                          CD8B2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000026/7 (TOPMED)
                                          HGVS:

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