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Items: 1 to 20 of 2073

1.

rs1491307634 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491283614 has merged into rs753824480 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      16:67153958 (GRCh38)
      16:67187861 (GRCh37)
      Canonical SPDI:
      NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      TRADD (Varview)
      Functional Consequence:
      downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTT=0./0 (ALFA)
      -=0.000026/7 (TOPMED)
      HGVS:
      NC_000016.10:g.67153958_67153968del, NC_000016.10:g.67153959_67153968del, NC_000016.10:g.67153962_67153968del, NC_000016.10:g.67153963_67153968del, NC_000016.10:g.67153964_67153968del, NC_000016.10:g.67153965_67153968del, NC_000016.10:g.67153966_67153968del, NC_000016.10:g.67153967_67153968del, NC_000016.10:g.67153968del, NC_000016.10:g.67153968dup, NC_000016.10:g.67153967_67153968dup, NC_000016.10:g.67153966_67153968dup, NC_000016.10:g.67153965_67153968dup, NC_000016.10:g.67153964_67153968dup, NC_000016.10:g.67153963_67153968dup, NC_000016.10:g.67153962_67153968dup, NC_000016.9:g.67187861_67187871del, NC_000016.9:g.67187862_67187871del, NC_000016.9:g.67187865_67187871del, NC_000016.9:g.67187866_67187871del, NC_000016.9:g.67187867_67187871del, NC_000016.9:g.67187868_67187871del, NC_000016.9:g.67187869_67187871del, NC_000016.9:g.67187870_67187871del, NC_000016.9:g.67187871del, NC_000016.9:g.67187871dup, NC_000016.9:g.67187870_67187871dup, NC_000016.9:g.67187869_67187871dup, NC_000016.9:g.67187868_67187871dup, NC_000016.9:g.67187867_67187871dup, NC_000016.9:g.67187866_67187871dup, NC_000016.9:g.67187865_67187871dup
      3.

      rs1491068536 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        16:67161451 (GRCh38)
        16:67195354 (GRCh37)
        Canonical SPDI:
        NC_000016.10:67161449:AGA:A
        Gene:
        TRADD (Varview), FBXL8 (Varview)
        Functional Consequence:
        2KB_upstream_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.00413/49 (ALFA)
        HGVS:
        4.

        rs1490140567 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          16:67161095 (GRCh38)
          16:67194998 (GRCh37)
          Canonical SPDI:
          NC_000016.10:67161094:C:T
          Gene:
          TRADD (Varview), FBXL8 (Varview)
          Functional Consequence:
          2KB_upstream_variant,intron_variant,upstream_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:
          5.

          rs1490050449 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            16:67153867 (GRCh38)
            16:67187770 (GRCh37)
            Canonical SPDI:
            NC_000016.10:67153866:T:G
            Gene:
            TRADD (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1489978899 has merged into rs59873315 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              16:67161462 (GRCh38)
              16:67195365 (GRCh37)
              Canonical SPDI:
              NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              TRADD (Varview), FBXL8 (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAA=0./0 (ALFA)
              -=0.03925/23 (NorthernSweden)
              HGVS:
              NC_000016.10:g.67161462_67161467del, NC_000016.10:g.67161463_67161467del, NC_000016.10:g.67161464_67161467del, NC_000016.10:g.67161465_67161467del, NC_000016.10:g.67161466_67161467del, NC_000016.10:g.67161467del, NC_000016.10:g.67161467dup, NC_000016.10:g.67161466_67161467dup, NC_000016.10:g.67161465_67161467dup, NC_000016.10:g.67161454_67161467dup, NC_000016.10:g.67161467_67161468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.67195365_67195370del, NC_000016.9:g.67195366_67195370del, NC_000016.9:g.67195367_67195370del, NC_000016.9:g.67195368_67195370del, NC_000016.9:g.67195369_67195370del, NC_000016.9:g.67195370del, NC_000016.9:g.67195370dup, NC_000016.9:g.67195369_67195370dup, NC_000016.9:g.67195368_67195370dup, NC_000016.9:g.67195357_67195370dup, NC_000016.9:g.67195370_67195371insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009294.1:g.3078_3083del, NG_009294.1:g.3079_3083del, NG_009294.1:g.3080_3083del, NG_009294.1:g.3081_3083del, NG_009294.1:g.3082_3083del, NG_009294.1:g.3083del, NG_009294.1:g.3083dup, NG_009294.1:g.3082_3083dup, NG_009294.1:g.3081_3083dup, NG_009294.1:g.3070_3083dup, NG_009294.1:g.3083_3084insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              7.

              rs1489679566 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                16:67156710 (GRCh38)
                16:67190613 (GRCh37)
                Canonical SPDI:
                NC_000016.10:67156709:C:A
                Gene:
                TRADD (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)
                HGVS:
                8.

                rs1489556707 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  16:67160047 (GRCh38)
                  16:67193950 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:67160046:C:A
                  Gene:
                  TRADD (Varview), FBXL8 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1489375780 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    16:67157939 (GRCh38)
                    16:67191842 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:67157938:A:G
                    Gene:
                    TRADD (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:
                    10.

                    rs1488599785 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      16:67153973 (GRCh38)
                      16:67187876 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:67153972:C:A
                      Gene:
                      TRADD (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.0016/45 (TOMMO)
                      HGVS:
                      11.

                      rs1487861225 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        16:67161859 (GRCh38)
                        16:67195762 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:67161858:G:A
                        Gene:
                        HSF4 (Varview), TRADD (Varview), FBXL8 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1487582948 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:67155676 (GRCh38)
                          16:67189579 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:67155675:C:T
                          Gene:
                          TRADD (Varview)
                          Functional Consequence:
                          intron_variant
                          HGVS:
                          13.

                          rs1487470065 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:67161851 (GRCh38)
                            16:67195754 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:67161850:G:A
                            Gene:
                            HSF4 (Varview), TRADD (Varview), FBXL8 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
                            HGVS:
                            14.

                            rs1487399023 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GAGTGTT>- [Show Flanks]
                              Chromosome:
                              16:67158026 (GRCh38)
                              16:67191929 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:67158018:GAGTGTTGAGTGTT:GAGTGTT
                              Gene:
                              TRADD (Varview), FBXL8 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              GAGTGTTGAGTGTT=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487233442 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                16:67160134 (GRCh38)
                                16:67194037 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:67160133:T:C
                                Gene:
                                TRADD (Varview), FBXL8 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1487136097 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  16:67159007 (GRCh38)
                                  16:67192910 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:67159006:G:A,NC_000016.10:67159006:G:C
                                  Gene:
                                  TRADD (Varview), FBXL8 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  C=0.000156/1 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1487041937 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    16:67156273 (GRCh38)
                                    16:67190176 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:67156272:G:A
                                    Gene:
                                    TRADD (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1486484369 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      16:67161168 (GRCh38)
                                      16:67195071 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:67161167:C:A
                                      Gene:
                                      TRADD (Varview), FBXL8 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486406460 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        16:67155534 (GRCh38)
                                        16:67189437 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:67155533:C:T
                                        Gene:
                                        TRADD (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486277294 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          16:67158989 (GRCh38)
                                          16:67192892 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:67158988:C:G,NC_000016.10:67158988:C:T
                                          Gene:
                                          TRADD (Varview), FBXL8 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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