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1.

rs1491552859 has merged into rs57877062 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
    Chromosome:
    11:870999 (GRCh38)
    11:870999 (GRCh37)
    Canonical SPDI:
    NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:870989:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
    Gene:
    CHID1 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTT=0./0 (ALFA)
    T=0.2113/1058 (1000Genomes)
    HGVS:
    2.

    rs1491464403 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      11:870989 (GRCh38)
      11:870989 (GRCh37)
      Canonical SPDI:
      NC_000011.10:870988:CT:
      Gene:
      CHID1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491442575 has merged into rs1012500230 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
        Chromosome:
        11:916908 (GRCh38)
        11:916908 (GRCh37)
        Canonical SPDI:
        NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
        Gene:
        CHID1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAA=0./0 (ALFA)
        HGVS:
        4.

        rs1491398095 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          11:891938 (GRCh38)
          11:891938 (GRCh37)
          Canonical SPDI:
          NC_000011.10:891937:CA:
          Gene:
          CHID1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.007/83 (ALFA)
          -=0.00437/72 (TOMMO)
          HGVS:
          5.

          rs1491355614 has merged into rs57065345 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            11:891947 (GRCh38)
            11:891947 (GRCh37)
            Canonical SPDI:
            NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:891938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            CHID1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAA=0./0 (ALFA)
            AA=0.3255/1630 (1000Genomes)
            HGVS:
            NC_000011.10:g.891947_891960del, NC_000011.10:g.891948_891960del, NC_000011.10:g.891949_891960del, NC_000011.10:g.891950_891960del, NC_000011.10:g.891951_891960del, NC_000011.10:g.891953_891960del, NC_000011.10:g.891954_891960del, NC_000011.10:g.891955_891960del, NC_000011.10:g.891956_891960del, NC_000011.10:g.891957_891960del, NC_000011.10:g.891958_891960del, NC_000011.10:g.891959_891960del, NC_000011.10:g.891960del, NC_000011.10:g.891960dup, NC_000011.10:g.891959_891960dup, NC_000011.10:g.891958_891960dup, NC_000011.9:g.891947_891960del, NC_000011.9:g.891948_891960del, NC_000011.9:g.891949_891960del, NC_000011.9:g.891950_891960del, NC_000011.9:g.891951_891960del, NC_000011.9:g.891953_891960del, NC_000011.9:g.891954_891960del, NC_000011.9:g.891955_891960del, NC_000011.9:g.891956_891960del, NC_000011.9:g.891957_891960del, NC_000011.9:g.891958_891960del, NC_000011.9:g.891959_891960del, NC_000011.9:g.891960del, NC_000011.9:g.891960dup, NC_000011.9:g.891959_891960dup, NC_000011.9:g.891958_891960dup
            6.

            rs1491264770 has merged into rs1012500230 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
              Chromosome:
              11:916908 (GRCh38)
              11:916908 (GRCh37)
              Canonical SPDI:
              NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:916898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
              Gene:
              CHID1 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAA=0./0 (ALFA)
              HGVS:
              7.

              rs1491217745 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                11:916899 (GRCh38)
                11:916900 (GRCh37)
                Canonical SPDI:
                NC_000011.10:916899::G
                Gene:
                CHID1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.00001/1 (GnomAD)
                HGVS:
                8.

                rs1491099741 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  11:916898 (GRCh38)
                  11:916898 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:916897:CA:
                  Gene:
                  CHID1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00017/2 (ALFA)
                  HGVS:
                  9.

                  rs1491037640 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GA>- [Show Flanks]
                    Chromosome:
                    11:886158 (GRCh38)
                    11:886158 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:886156:AGA:A
                    Gene:
                    CHID1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.00059/7 (ALFA)
                    -=0.00054/8 (TOMMO)
                    -=0.00167/145 (GnomAD)
                    -=0.00187/12 (1000Genomes)
                    HGVS:
                    10.

                    rs1490874561 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      11:887905 (GRCh38)
                      11:887905 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:887904:G:T
                      Gene:
                      CHID1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000021/3 (GnomAD)
                      T=0.000023/6 (TOPMED)
                      T=0.000546/1 (Korea1K)
                      T=0.000743/12 (TOMMO)
                      T=0.00137/4 (KOREAN)
                      HGVS:
                      11.

                      rs1490831871 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,C,G [Show Flanks]
                        Chromosome:
                        11:913759 (GRCh38)
                        11:913759 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:913758:T:A,NC_000011.10:913758:T:C,NC_000011.10:913758:T:G
                        Gene:
                        CHID1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        C=0.01439/42 (KOREAN)
                        HGVS:
                        13.

                        rs1490802558 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:898755 (GRCh38)
                          11:898755 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:898754:G:A
                          Gene:
                          CHID1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          14.

                          rs1490714313 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            11:869009 (GRCh38)
                            11:869009 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:869008:C:T
                            Gene:
                            CHID1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_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:
                            15.

                            rs1490669787 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              11:912926 (GRCh38)
                              11:912926 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:912925:T:C
                              Gene:
                              CHID1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              16.

                              rs1490664755 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:905076 (GRCh38)
                                11:905076 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:905075:C:T
                                Gene:
                                CHID1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                HGVS:
                                17.

                                rs1490643601 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  11:911017 (GRCh38)
                                  11:911017 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:911016:C:A,NC_000011.10:911016:C:T
                                  Gene:
                                  CHID1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.00007/1 (ALFA)
                                  T=0.00022/1 (Estonian)
                                  HGVS:
                                  18.

                                  rs1490620402 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    11:882017 (GRCh38)
                                    11:882017 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:882016:A:G
                                    Gene:
                                    CHID1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000011/3 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1490599776 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:903098 (GRCh38)
                                      11:903098 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:903097:T:C
                                      Gene:
                                      CHID1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.903098T>C, NC_000011.9:g.903098T>C, NM_023947.4:c.125A>G, NM_023947.3:c.125A>G, XM_011520302.4:c.380A>G, XM_011520302.3:c.380A>G, XM_011520302.2:c.380A>G, XM_011520302.1:c.380A>G, XM_011520301.4:c.380A>G, XM_011520301.3:c.380A>G, XM_011520301.2:c.380A>G, XM_011520301.1:c.380A>G, XM_011520299.3:c.380A>G, XM_011520299.2:c.380A>G, XM_011520299.1:c.380A>G, XM_011520300.3:c.380A>G, XM_011520300.2:c.380A>G, XM_011520300.1:c.380A>G, XM_017018167.3:c.125A>G, XM_017018167.2:c.125A>G, XM_017018167.1:c.125A>G, XM_017018166.2:c.125A>G, XM_017018166.1:c.125A>G, NM_001142674.2:c.125A>G, NM_001142674.1:c.125A>G, NM_001142676.2:c.200A>G, NM_001142676.1:c.200A>G, NM_001142675.2:c.125A>G, NM_001142675.1:c.125A>G, NM_001142677.2:c.125A>G, NM_001142677.1:c.125A>G, XM_024448663.2:c.125A>G, XM_024448663.1:c.125A>G, XM_047427481.1:c.125A>G, XM_047427480.1:c.125A>G, XM_047427479.1:c.125A>G, XM_047427484.1:c.125A>G, XM_047427482.1:c.380A>G, XM_047427483.1:c.125A>G, XM_047427486.1:c.125A>G, XM_047427485.1:c.125A>G, NP_076436.3:p.Asp42Gly, XP_011518604.1:p.Asp127Gly, XP_011518603.1:p.Asp127Gly, XP_011518601.1:p.Asp127Gly, XP_011518602.1:p.Asp127Gly, XP_016873656.1:p.Asp42Gly, XP_016873655.1:p.Asp42Gly, NP_001136146.1:p.Asp42Gly, NP_001136148.1:p.Asp67Gly, NP_001136147.1:p.Asp42Gly, NP_001136149.1:p.Asp42Gly, XP_024304431.1:p.Asp42Gly, XP_047283437.1:p.Asp42Gly, XP_047283436.1:p.Asp42Gly, XP_047283435.1:p.Asp42Gly, XP_047283440.1:p.Asp42Gly, XP_047283438.1:p.Asp127Gly, XP_047283439.1:p.Asp42Gly, XP_047283442.1:p.Asp42Gly, XP_047283441.1:p.Asp42Gly
                                      20.

                                      rs1490506148 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:875483 (GRCh38)
                                        11:875483 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:875482:G:A
                                        Gene:
                                        CHID1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000019/5 (TOPMED)
                                        A=0.000036/5 (GnomAD)
                                        HGVS:

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