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Items: 1 to 20 of 1000

1.

rs1491582552 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->GACTTTA [Show Flanks]
    Chromosome:
    8:78757655 (GRCh38)
    8:79669891 (GRCh37)
    Canonical SPDI:
    NC_000008.11:78757655::GACTTTA
    Gene:
    IL7 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    GACTTTA=0./0 (ALFA)
    GACTTTA=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491580700 has merged into rs200421095 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TATA>-,TA,TATATA,TATATAATAAATTATATATATTTATATAAATATATATA [Show Flanks]
      Chromosome:
      8:78687916 (GRCh38)
      8:79600151 (GRCh37)
      Canonical SPDI:
      NC_000008.11:78687912:ATATATA:ATA,NC_000008.11:78687912:ATATATA:ATATA,NC_000008.11:78687912:ATATATA:ATATATATA,NC_000008.11:78687912:ATATATA:ATATATATAATAAATTATATATATTTATATAAATATATATA
      Gene:
      IL7 (Varview), ZC2HC1A (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ATATA=0./0 (ALFA)
      -=0.14672/2363 (TOMMO)
      -=0.26018/1303 (1000Genomes)
      HGVS:
      3.

      Error occurred: cannot get document summary

      4.

      rs1491439047 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        8:78735277 (GRCh38)
        8:79647513 (GRCh37)
        Canonical SPDI:
        NC_000008.11:78735277::C
        Gene:
        IL7 (Varview)
        Functional Consequence:
        intron_variant
        HGVS:
        5.

        rs1491394713 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->T [Show Flanks]
          Chromosome:
          8:78688695 (GRCh38)
          8:79600931 (GRCh37)
          Canonical SPDI:
          NC_000008.11:78688695:T:TT
          Gene:
          IL7 (Varview), ZC2HC1A (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          TT=0./0 (ALFA)
          T=0.000014/2 (GnomAD)
          HGVS:
          6.

          rs1491389514 has merged into rs3071074 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
            Chromosome:
            8:78759227 (GRCh38)
            8:79671462 (GRCh37)
            Canonical SPDI:
            NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
            Gene:
            IL7 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTTTTTT=0./0 (ALFA)
            HGVS:
            7.

            rs1491283161 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              8:78688699 (GRCh38)
              8:79600934 (GRCh37)
              Canonical SPDI:
              NC_000008.11:78688694:ATATAT:ATAT
              Gene:
              IL7 (Varview), ZC2HC1A (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ATAT=0./0 (ALFA)
              -=0.00007/1 (TOMMO)
              HGVS:
              8.

              rs1491181635 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                ->T
                Chromosome:
                no mapping
                Canonical SPDI:
                9.

                rs1491147805 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->CT [Show Flanks]
                  Chromosome:
                  8:78759217 (GRCh38)
                  8:79671453 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:78759217:T:TCT
                  Gene:
                  IL7 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  TCT=0./0 (ALFA)
                  TC=0.00003/2 (GnomAD)
                  HGVS:
                  10.

                  rs1491133723 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CT>- [Show Flanks]
                    Chromosome:
                    8:78686425 (GRCh38)
                    8:79598660 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:78686424:CT:
                    Gene:
                    IL7 (Varview), ZC2HC1A (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000027/3 (GnomAD)
                    -=0.000042/1 (GnomAD_exomes)
                    HGVS:
                    11.

                    rs1491085704 has merged into rs35093575 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
                      Chromosome:
                      8:78742172 (GRCh38)
                      8:79654407 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:78742157:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:78742157:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:78742157:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:78742157:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:78742157:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:78742157:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
                      Gene:
                      IL7 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAAAAAAAA=0.0002/2 (ALFA)
                      HGVS:
                      12.

                      rs1491082222 has merged into rs200930977 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AA>-,A,AAA,AAAA [Show Flanks]
                        Chromosome:
                        8:78751103 (GRCh38)
                        8:79663338 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:78751091:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:78751091:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:78751091:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:78751091:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
                        Gene:
                        IL7 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAAAAAA=0.00049/5 (ALFA)
                        -=0.15615/579 (TWINSUK)
                        -=0.15698/605 (ALSPAC)
                        HGVS:
                        13.

                        rs1491078686 has merged into rs35466249 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
                          Chromosome:
                          8:78762662 (GRCh38)
                          8:79674897 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:78762652:TTTTTTTTTTT:TTTTTTTTT,NC_000008.11:78762652:TTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:78762652:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:78762652:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:78762652:TTTTTTTTTTT:TTTTTTTTTTTTTT
                          Gene:
                          IL7 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTTTTTTTT=0./0 (ALFA)
                          -=0.3814/1649 (1000Genomes)
                          HGVS:
                          14.

                          rs1491073861 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AT>- [Show Flanks]
                            Chromosome:
                            8:78735264 (GRCh38)
                            8:79647499 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:78735262:TAT:T
                            Gene:
                            IL7 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            15.

                            rs1491031066 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->G,T [Show Flanks]
                              Chromosome:
                              8:78717504 (GRCh38)
                              8:79629740 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:78717504::G,NC_000008.11:78717504::T
                              Gene:
                              IL7 (Varview), ZC2HC1A (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.00011/3 (TOMMO)
                              HGVS:
                              16.

                              rs1491021814 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GT>- [Show Flanks]
                                Chromosome:
                                8:78735293 (GRCh38)
                                8:79647528 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:78735291:TGT:T
                                Gene:
                                IL7 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                17.

                                rs1491010918 has merged into rs35710652 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  8:78703549 (GRCh38)
                                  8:79615784 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  IL7 (Varview), ZC2HC1A (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTTTTT=0./0 (ALFA)
                                  -=0.25/10 (GENOME_DK)
                                  -=0.3131/1568 (1000Genomes)
                                  HGVS:
                                  18.

                                  rs1490988796 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    8:78752336 (GRCh38)
                                    8:79664571 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:78752335:G:A
                                    Gene:
                                    IL7 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1490949892 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CTC>- [Show Flanks]
                                      Chromosome:
                                      8:78802682 (GRCh38)
                                      8:79714917 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:78802680:CCTC:C
                                      Gene:
                                      IL7 (Varview), LOC105375914 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1490946299 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        G>- [Show Flanks]
                                        Chromosome:
                                        8:78680316 (GRCh38)
                                        8:79592551 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:78680315:G:
                                        Gene:
                                        IL7 (Varview), ZC2HC1A (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        HGVS:

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