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2.

rs781699375 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:32853485 (GRCh38)
    6:32821262 (GRCh37)
    Canonical SPDI:
    NC_000006.12:32853484:G:A
    Gene:
    PSMB9 (Varview), TAP1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000158/7 (ALFA)
    A=0.000073/8 (ExAC)
    A=0.000086/12 (GnomAD)
    A=0.000088/21 (GnomAD_exomes)
    A=0.000094/25 (TOPMED)
    HGVS:
    3.

    rs781627254 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      6:32853612 (GRCh38)
      6:32821389 (GRCh37)
      Canonical SPDI:
      NC_000006.12:32853611:G:A,NC_000006.12:32853611:G:C
      Gene:
      PSMB9 (Varview), TAP1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      A=0.000009/1 (ExAC)
      HGVS:
      NC_000006.12:g.32853612G>A, NC_000006.12:g.32853612G>C, NC_000006.11:g.32821389G>A, NC_000006.11:g.32821389G>C, NG_011759.1:g.5360C>T, NG_011759.1:g.5360C>G, NM_000593.6:c.25C>T, NM_000593.6:c.25C>G, NM_000593.5:c.205C>T, NM_000593.5:c.205C>G, NT_113891.3:g.4265811G>A, NT_113891.3:g.4265811G>C, NT_113891.2:g.4265917G>A, NT_113891.2:g.4265917G>C, NT_167248.2:g.4047900G>A, NT_167248.2:g.4047900G>C, NT_167248.1:g.4053496G>A, NT_167248.1:g.4053496G>C, NT_167246.2:g.4272965G>A, NT_167246.2:g.4272965G>C, NT_167246.1:g.4278585G>A, NT_167246.1:g.4278585G>C, NT_167249.2:g.4252864G>A, NT_167249.2:g.4252864G>C, NT_167249.1:g.4252162G>A, NT_167249.1:g.4252162G>C, NT_167245.2:g.4097182G>A, NT_167245.2:g.4097182G>C, NT_167245.1:g.4102767G>A, NT_167245.1:g.4102767G>C, NT_167244.2:g.4158477G>A, NT_167244.2:g.4158477G>C, NT_167244.1:g.4108393G>A, NT_167244.1:g.4108393G>C, NT_167247.2:g.4152681G>A, NT_167247.2:g.4152681G>C, NT_167247.1:g.4158266G>A, NT_167247.1:g.4158266G>C, NP_000584.3:p.Pro9Ser, NP_000584.3:p.Pro9Ala
      4.

      rs781555671 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:32845560 (GRCh38)
        6:32813337 (GRCh37)
        Canonical SPDI:
        NC_000006.12:32845559:C:T
        Gene:
        PSMB8 (Varview), TAP1 (Varview), PSMB8-AS1 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000004/1 (TOPMED)
        T=0.000017/2 (ExAC)
        HGVS:
        5.
        6.

        rs781482318 has merged into rs9280199 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
          Chromosome:
          6:32849598 (GRCh38)
          6:32817375 (GRCh37)
          Canonical SPDI:
          NC_000006.12:32849585:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:32849585:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:32849585:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:32849585:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:32849585:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:32849585:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
          Gene:
          TAP1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAA=0./0 (ALFA)
          -=0.4788/2398 (1000Genomes)
          HGVS:
          NC_000006.12:g.32849598_32849601del, NC_000006.12:g.32849599_32849601del, NC_000006.12:g.32849600_32849601del, NC_000006.12:g.32849601del, NC_000006.12:g.32849601dup, NC_000006.12:g.32849600_32849601dup, NC_000006.11:g.32817375_32817378del, NC_000006.11:g.32817376_32817378del, NC_000006.11:g.32817377_32817378del, NC_000006.11:g.32817378del, NC_000006.11:g.32817378dup, NC_000006.11:g.32817377_32817378dup, NG_011759.1:g.9383_9386del, NG_011759.1:g.9384_9386del, NG_011759.1:g.9385_9386del, NG_011759.1:g.9386del, NG_011759.1:g.9386dup, NG_011759.1:g.9385_9386dup, NG_028165.1:g.347_350del, NG_028165.1:g.348_350del, NG_028165.1:g.349_350del, NG_028165.1:g.350del, NG_028165.1:g.350dup, NG_028165.1:g.349_350dup, NT_113891.3:g.4261797_4261800del, NT_113891.3:g.4261798_4261800del, NT_113891.3:g.4261799_4261800del, NT_113891.3:g.4261800del, NT_113891.3:g.4261800dup, NT_113891.3:g.4261799_4261800dup, NT_113891.2:g.4261903_4261906del, NT_113891.2:g.4261904_4261906del, NT_113891.2:g.4261905_4261906del, NT_113891.2:g.4261906del, NT_113891.2:g.4261906dup, NT_113891.2:g.4261905_4261906dup, NT_167248.2:g.4043886_4043889del, NT_167248.2:g.4043887_4043889del, NT_167248.2:g.4043888_4043889del, NT_167248.2:g.4043889del, NT_167248.2:g.4043889dup, NT_167248.2:g.4043888_4043889dup, NT_167248.1:g.4049482_4049485del, NT_167248.1:g.4049483_4049485del, NT_167248.1:g.4049484_4049485del, NT_167248.1:g.4049485del, NT_167248.1:g.4049485dup, NT_167248.1:g.4049484_4049485dup, NT_167246.2:g.4268951_4268954del, NT_167246.2:g.4268952_4268954del, NT_167246.2:g.4268953_4268954del, NT_167246.2:g.4268954del, NT_167246.2:g.4268954dup, NT_167246.2:g.4268953_4268954dup, NT_167246.1:g.4274571_4274574del, NT_167246.1:g.4274572_4274574del, NT_167246.1:g.4274573_4274574del, NT_167246.1:g.4274574del, NT_167246.1:g.4274574dup, NT_167246.1:g.4274573_4274574dup, NT_167249.2:g.4248850_4248851dup, NT_167249.2:g.4248850_4248851del, NT_167249.2:g.4248851del, NT_167249.2:g.4248851dup, NT_167249.2:g.4248849_4248851dup, NT_167249.2:g.4248848_4248851dup, NT_167245.2:g.4093168_4093169dup, NT_167245.2:g.4093168_4093169del, NT_167245.2:g.4093169del, NT_167245.2:g.4093169dup, NT_167245.2:g.4093167_4093169dup, NT_167245.2:g.4093166_4093169dup, NT_167244.2:g.4154463_4154464dup, NT_167244.2:g.4154463_4154464del, NT_167244.2:g.4154464del, NT_167244.2:g.4154464dup, NT_167244.2:g.4154462_4154464dup, NT_167244.2:g.4154461_4154464dup, NT_167247.2:g.4148667_4148668dup, NT_167247.2:g.4148667_4148668del, NT_167247.2:g.4148668del, NT_167247.2:g.4148668dup, NT_167247.2:g.4148666_4148668dup, NT_167247.2:g.4148665_4148668dup, NT_167245.1:g.4098753_4098754dup, NT_167245.1:g.4098753_4098754del, NT_167245.1:g.4098754del, NT_167245.1:g.4098754dup, NT_167245.1:g.4098752_4098754dup, NT_167245.1:g.4098751_4098754dup, NT_167249.1:g.4248148_4248149dup, NT_167249.1:g.4248148_4248149del, NT_167249.1:g.4248149del, NT_167249.1:g.4248149dup, NT_167249.1:g.4248147_4248149dup, NT_167249.1:g.4248146_4248149dup, NT_167247.1:g.4154252_4154253dup, NT_167247.1:g.4154252_4154253del, NT_167247.1:g.4154253del, NT_167247.1:g.4154253dup, NT_167247.1:g.4154251_4154253dup, NT_167247.1:g.4154250_4154253dup, NT_167244.1:g.4104379_4104380dup, NT_167244.1:g.4104379_4104380del, NT_167244.1:g.4104380del, NT_167244.1:g.4104380dup, NT_167244.1:g.4104378_4104380dup, NT_167244.1:g.4104377_4104380dup
          8.

          rs781309756 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:32846165 (GRCh38)
            6:32813942 (GRCh37)
            Canonical SPDI:
            NC_000006.12:32846164:G:A
            Gene:
            PSMB8 (Varview), TAP1 (Varview), PSMB8-AS1 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
            Validated:
            by frequency,by cluster
            MAF:
            A=0./0 (ALSPAC)
            A=0.0003/1 (TWINSUK)
            HGVS:
            10.

            rs781065279 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              6:32850368 (GRCh38)
              6:32818145 (GRCh37)
              Canonical SPDI:
              NC_000006.12:32850367:G:T
              Gene:
              TAP1 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000087/2 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000007/1 (GnomAD)
              T=0.000008/1 (ExAC)
              T=0.000015/4 (TOPMED)
              HGVS:
              12.

              rs781031767 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                6:32851042 (GRCh38)
                6:32818819 (GRCh37)
                Canonical SPDI:
                NC_000006.12:32851041:C:T
                Gene:
                TAP1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0./0 (ALSPAC)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000009/1 (ExAC)
                T=0.000021/3 (GnomAD)
                T=0.000026/7 (TOPMED)
                T=0.00027/1 (TWINSUK)
                HGVS:
                13.

                rs780954687 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:32853862 (GRCh38)
                  6:32821639 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:32853861:C:T
                  Gene:
                  PSMB9 (Varview), TAP1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000084/1 (ALFA)
                  T=0./0 (ExAC)
                  T=0.000004/1 (TOPMED)
                  T=0.000015/2 (GnomAD_exomes)
                  HGVS:
                  14.
                  15.

                  rs780697870 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:32848099 (GRCh38)
                    6:32815876 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:32848098:G:A
                    Gene:
                    TAP1 (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=0.00001/2 (GnomAD_exomes)
                    A=0.00002/1 (ExAC)
                    HGVS:
                    16.

                    rs780683232 has merged into rs9280199 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
                      Chromosome:
                      6:32849598 (GRCh38)
                      6:32817375 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:32849585:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:32849585:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:32849585:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:32849585:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:32849585:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:32849585:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
                      Gene:
                      TAP1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAAA=0./0 (ALFA)
                      -=0.4788/2398 (1000Genomes)
                      HGVS:
                      NC_000006.12:g.32849598_32849601del, NC_000006.12:g.32849599_32849601del, NC_000006.12:g.32849600_32849601del, NC_000006.12:g.32849601del, NC_000006.12:g.32849601dup, NC_000006.12:g.32849600_32849601dup, NC_000006.11:g.32817375_32817378del, NC_000006.11:g.32817376_32817378del, NC_000006.11:g.32817377_32817378del, NC_000006.11:g.32817378del, NC_000006.11:g.32817378dup, NC_000006.11:g.32817377_32817378dup, NG_011759.1:g.9383_9386del, NG_011759.1:g.9384_9386del, NG_011759.1:g.9385_9386del, NG_011759.1:g.9386del, NG_011759.1:g.9386dup, NG_011759.1:g.9385_9386dup, NG_028165.1:g.347_350del, NG_028165.1:g.348_350del, NG_028165.1:g.349_350del, NG_028165.1:g.350del, NG_028165.1:g.350dup, NG_028165.1:g.349_350dup, NT_113891.3:g.4261797_4261800del, NT_113891.3:g.4261798_4261800del, NT_113891.3:g.4261799_4261800del, NT_113891.3:g.4261800del, NT_113891.3:g.4261800dup, NT_113891.3:g.4261799_4261800dup, NT_113891.2:g.4261903_4261906del, NT_113891.2:g.4261904_4261906del, NT_113891.2:g.4261905_4261906del, NT_113891.2:g.4261906del, NT_113891.2:g.4261906dup, NT_113891.2:g.4261905_4261906dup, NT_167248.2:g.4043886_4043889del, NT_167248.2:g.4043887_4043889del, NT_167248.2:g.4043888_4043889del, NT_167248.2:g.4043889del, NT_167248.2:g.4043889dup, NT_167248.2:g.4043888_4043889dup, NT_167248.1:g.4049482_4049485del, NT_167248.1:g.4049483_4049485del, NT_167248.1:g.4049484_4049485del, NT_167248.1:g.4049485del, NT_167248.1:g.4049485dup, NT_167248.1:g.4049484_4049485dup, NT_167246.2:g.4268951_4268954del, NT_167246.2:g.4268952_4268954del, NT_167246.2:g.4268953_4268954del, NT_167246.2:g.4268954del, NT_167246.2:g.4268954dup, NT_167246.2:g.4268953_4268954dup, NT_167246.1:g.4274571_4274574del, NT_167246.1:g.4274572_4274574del, NT_167246.1:g.4274573_4274574del, NT_167246.1:g.4274574del, NT_167246.1:g.4274574dup, NT_167246.1:g.4274573_4274574dup, NT_167249.2:g.4248850_4248851dup, NT_167249.2:g.4248850_4248851del, NT_167249.2:g.4248851del, NT_167249.2:g.4248851dup, NT_167249.2:g.4248849_4248851dup, NT_167249.2:g.4248848_4248851dup, NT_167245.2:g.4093168_4093169dup, NT_167245.2:g.4093168_4093169del, NT_167245.2:g.4093169del, NT_167245.2:g.4093169dup, NT_167245.2:g.4093167_4093169dup, NT_167245.2:g.4093166_4093169dup, NT_167244.2:g.4154463_4154464dup, NT_167244.2:g.4154463_4154464del, NT_167244.2:g.4154464del, NT_167244.2:g.4154464dup, NT_167244.2:g.4154462_4154464dup, NT_167244.2:g.4154461_4154464dup, NT_167247.2:g.4148667_4148668dup, NT_167247.2:g.4148667_4148668del, NT_167247.2:g.4148668del, NT_167247.2:g.4148668dup, NT_167247.2:g.4148666_4148668dup, NT_167247.2:g.4148665_4148668dup, NT_167245.1:g.4098753_4098754dup, NT_167245.1:g.4098753_4098754del, NT_167245.1:g.4098754del, NT_167245.1:g.4098754dup, NT_167245.1:g.4098752_4098754dup, NT_167245.1:g.4098751_4098754dup, NT_167249.1:g.4248148_4248149dup, NT_167249.1:g.4248148_4248149del, NT_167249.1:g.4248149del, NT_167249.1:g.4248149dup, NT_167249.1:g.4248147_4248149dup, NT_167249.1:g.4248146_4248149dup, NT_167247.1:g.4154252_4154253dup, NT_167247.1:g.4154252_4154253del, NT_167247.1:g.4154253del, NT_167247.1:g.4154253dup, NT_167247.1:g.4154251_4154253dup, NT_167247.1:g.4154250_4154253dup, NT_167244.1:g.4104379_4104380dup, NT_167244.1:g.4104379_4104380del, NT_167244.1:g.4104380del, NT_167244.1:g.4104380dup, NT_167244.1:g.4104378_4104380dup, NT_167244.1:g.4104377_4104380dup
                      20.

                      rs780529159 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:32854339 (GRCh38)
                        6:32822116 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:32854338:G:A
                        Gene:
                        PSMB9 (Varview), TAP1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000014/2 (GnomAD)
                        A=0.000019/1 (GnomAD_exomes)
                        A=0.000034/9 (TOPMED)
                        A=0.000176/1 (ExAC)
                        HGVS:

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