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Items: 1 to 20 of 1000

1.

rs1491433185 has merged into rs1179674998 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CG>-,CGCG [Show Flanks]
    Chromosome:
    2:86828339 (GRCh38)
    2:87055462 (GRCh37)
    Canonical SPDI:
    NC_000002.12:86828337:GCG:G,NC_000002.12:86828337:GCG:GCGCG
    Gene:
    CD8B (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GCGCG=0.000084/1 (ALFA)
    GC=0.000057/8 (GnomAD)
    -=0.003114/12 (ALSPAC)
    -=0.005663/21 (TWINSUK)
    HGVS:
    2.

    rs1491116314 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      2:86823991 (GRCh38)
      2:87051114 (GRCh37)
      Canonical SPDI:
      NC_000002.12:86823990:AT:
      Gene:
      CD8B (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000023/6 (TOPMED)
      -=0.000036/5 (GnomAD)
      HGVS:
      3.

      rs1491090439 has merged into rs67145087 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        2:86826834 (GRCh38)
        2:87053957 (GRCh37)
        Canonical SPDI:
        NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
        Gene:
        CD8B (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTTTT=0./0 (ALFA)
        -=0.1961/982 (1000Genomes)
        HGVS:
        4.

        rs1490979041 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G [Show Flanks]
          Chromosome:
          2:86856761 (GRCh38)
          2:87083884 (GRCh37)
          Canonical SPDI:
          NC_000002.12:86856760:C:A,NC_000002.12:86856760:C:G
          Gene:
          CD8B (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490975700 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            CAAAATGGAGATTGCATTG>-
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1490950380 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C,T [Show Flanks]
              Chromosome:
              2:86855858 (GRCh38)
              2:87082981 (GRCh37)
              Canonical SPDI:
              NC_000002.12:86855857:G:A,NC_000002.12:86855857:G:C,NC_000002.12:86855857:G:T
              Gene:
              CD8B (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490917463 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                2:86840749 (GRCh38)
                2:87067872 (GRCh37)
                Canonical SPDI:
                NC_000002.12:86840748:C:G
                Gene:
                CD8B (Varview)
                Functional Consequence:
                intron_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490847685 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:86826908 (GRCh38)
                  2:87054031 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:86826907:G:A
                  Gene:
                  CD8B (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490782883 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    2:86833816 (GRCh38)
                    2:87060939 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:86833815:A:C
                    Gene:
                    CD8B (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1490778038 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:86834745 (GRCh38)
                      2:87061868 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:86834744:A:G
                      Gene:
                      CD8B (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490730862 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:86860412 (GRCh38)
                        2:87087535 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:86860411:C:T
                        Gene:
                        CD8B (Varview), ANAPC1P1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000014/2 (GnomAD)
                        T=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1490700331 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          2:86862399 (GRCh38)
                          2:87089522 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:86862398:G:C
                          Gene:
                          CD8B (Varview), ANAPC1P1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490617205 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            2:86833607 (GRCh38)
                            2:87060730 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:86833606:A:C,NC_000002.12:86833606:A:G
                            Gene:
                            CD8B (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            C=0.06931/196 (KOREAN)
                            HGVS:
                            14.

                            rs1490563803 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              2:86818128 (GRCh38)
                              2:87045251 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:86818127:T:G
                              Gene:
                              CD8B (Varview), LOC105374846 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1490554527 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                2:86843930 (GRCh38)
                                2:87071053 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:86843929:C:A,NC_000002.12:86843929:C:T
                                Gene:
                                CD8B (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490511249 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:86826050 (GRCh38)
                                  2:87053173 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:86826049:G:A
                                  Gene:
                                  CD8B (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490486597 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:86830031 (GRCh38)
                                    2:87057154 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:86830030:C:T
                                    Gene:
                                    CD8B (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_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.

                                    rs1490422842 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:86862874 (GRCh38)
                                      2:87089997 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:86862873:C:T
                                      Gene:
                                      CD8B (Varview), ANAPC1P1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490345627 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        A>- [Show Flanks]
                                        Chromosome:
                                        2:86825704 (GRCh38)
                                        2:87052827 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:86825703:AA:A
                                        Gene:
                                        CD8B (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AA=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490210969 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:86863510 (GRCh38)
                                          2:87090633 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:86863509:T:C
                                          Gene:
                                          CD8B (Varview), ANAPC1P1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000546/1 (Korea1K)
                                          HGVS:

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