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Items: 1 to 20 of 1523

1.

rs1491322840 has merged into rs144308373 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TATATATA>-,TA,TATA,TATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA [Show Flanks]
    Chromosome:
    1:53242852 (GRCh38)
    1:53708524 (GRCh37)
    Canonical SPDI:
    NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA
    Gene:
    LRP8 (Varview), MAGOH-DT (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATATATATATATA=0./0 (ALFA)
    ATATATATATAT=0.000004/1 (TOPMED)
    -=0.035029/135 (ALSPAC)
    HGVS:
    NC_000001.11:g.53242838TA[7], NC_000001.11:g.53242838TA[8], NC_000001.11:g.53242838TA[9], NC_000001.11:g.53242838TA[10], NC_000001.11:g.53242838TA[12], NC_000001.11:g.53242838TA[13], NC_000001.11:g.53242838TA[14], NC_000001.11:g.53242838TA[15], NC_000001.11:g.53242838TA[17], NC_000001.11:g.53242838TA[18], NC_000001.10:g.53708510TA[7], NC_000001.10:g.53708510TA[8], NC_000001.10:g.53708510TA[9], NC_000001.10:g.53708510TA[10], NC_000001.10:g.53708510TA[12], NC_000001.10:g.53708510TA[13], NC_000001.10:g.53708510TA[14], NC_000001.10:g.53708510TA[15], NC_000001.10:g.53708510TA[17], NC_000001.10:g.53708510TA[18], NG_011517.2:g.90292AT[7], NG_011517.2:g.90292AT[8], NG_011517.2:g.90292AT[9], NG_011517.2:g.90292AT[10], NG_011517.2:g.90292AT[12], NG_011517.2:g.90292AT[13], NG_011517.2:g.90292AT[14], NG_011517.2:g.90292AT[15], NG_011517.2:g.90292AT[17], NG_011517.2:g.90292AT[18], NM_004631.5:c.*4160AT[7], NM_004631.5:c.*4160AT[8], NM_004631.5:c.*4160AT[9], NM_004631.5:c.*4160AT[10], NM_004631.5:c.*4160AT[12], NM_004631.5:c.*4160AT[13], NM_004631.5:c.*4160AT[14], NM_004631.5:c.*4160AT[15], NM_004631.5:c.*4160AT[17], NM_004631.5:c.*4160AT[18], NM_004631.4:c.*4160AT[7], NM_004631.4:c.*4160AT[8], NM_004631.4:c.*4160AT[9], NM_004631.4:c.*4160AT[10], NM_004631.4:c.*4160AT[12], NM_004631.4:c.*4160AT[13], NM_004631.4:c.*4160AT[14], NM_004631.4:c.*4160AT[15], NM_004631.4:c.*4160AT[17], NM_004631.4:c.*4160AT[18], NM_017522.5:c.*4160AT[7], NM_017522.5:c.*4160AT[8], NM_017522.5:c.*4160AT[9], NM_017522.5:c.*4160AT[10], NM_017522.5:c.*4160AT[12], NM_017522.5:c.*4160AT[13], NM_017522.5:c.*4160AT[14], NM_017522.5:c.*4160AT[15], NM_017522.5:c.*4160AT[17], NM_017522.5:c.*4160AT[18], NM_017522.4:c.*4160AT[7], NM_017522.4:c.*4160AT[8], NM_017522.4:c.*4160AT[9], NM_017522.4:c.*4160AT[10], NM_017522.4:c.*4160AT[12], NM_017522.4:c.*4160AT[13], NM_017522.4:c.*4160AT[14], NM_017522.4:c.*4160AT[15], NM_017522.4:c.*4160AT[17], NM_017522.4:c.*4160AT[18], NM_033300.4:c.*4160AT[7], NM_033300.4:c.*4160AT[8], NM_033300.4:c.*4160AT[9], NM_033300.4:c.*4160AT[10], NM_033300.4:c.*4160AT[12], NM_033300.4:c.*4160AT[13], NM_033300.4:c.*4160AT[14], NM_033300.4:c.*4160AT[15], NM_033300.4:c.*4160AT[17], NM_033300.4:c.*4160AT[18], NM_033300.3:c.*4160AT[7], NM_033300.3:c.*4160AT[8], NM_033300.3:c.*4160AT[9], NM_033300.3:c.*4160AT[10], NM_033300.3:c.*4160AT[12], NM_033300.3:c.*4160AT[13], NM_033300.3:c.*4160AT[14], NM_033300.3:c.*4160AT[15], NM_033300.3:c.*4160AT[17], NM_033300.3:c.*4160AT[18], NM_001018054.3:c.*4160AT[7], NM_001018054.3:c.*4160AT[8], NM_001018054.3:c.*4160AT[9], NM_001018054.3:c.*4160AT[10], NM_001018054.3:c.*4160AT[12], NM_001018054.3:c.*4160AT[13], NM_001018054.3:c.*4160AT[14], NM_001018054.3:c.*4160AT[15], NM_001018054.3:c.*4160AT[17], NM_001018054.3:c.*4160AT[18], NM_001018054.2:c.*4160AT[7], NM_001018054.2:c.*4160AT[8], NM_001018054.2:c.*4160AT[9], NM_001018054.2:c.*4160AT[10], NM_001018054.2:c.*4160AT[12], NM_001018054.2:c.*4160AT[13], NM_001018054.2:c.*4160AT[14], NM_001018054.2:c.*4160AT[15], NM_001018054.2:c.*4160AT[17], NM_001018054.2:c.*4160AT[18]
    2.

    rs1491035787 has merged into rs1553172649 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC [Show Flanks]
      Chromosome:
      1:53242869 (GRCh38)
      1:53708541 (GRCh37)
      Canonical SPDI:
      NC_000001.11:53242858:ACACACACACACAC:ACACACACAC,NC_000001.11:53242858:ACACACACACACAC:ACACACACACAC,NC_000001.11:53242858:ACACACACACACAC:ACACACACACACACAC,NC_000001.11:53242858:ACACACACACACAC:ACACACACACACACACAC,NC_000001.11:53242858:ACACACACACACAC:ACACACACACACACACACAC,NC_000001.11:53242858:ACACACACACACAC:ACACACACACACACACACACAC
      Gene:
      LRP8 (Varview), MAGOH-DT (Varview)
      Functional Consequence:
      3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ACACACACACAC=0./0 (ALFA)
      AC=0.00487/1289 (TOPMED)
      AC=0.059523/998 (TOMMO)
      AC=0.084906/9 (Vietnamese)
      HGVS:
      NC_000001.11:g.53242859AC[5], NC_000001.11:g.53242859AC[6], NC_000001.11:g.53242859AC[8], NC_000001.11:g.53242859AC[9], NC_000001.11:g.53242859AC[10], NC_000001.11:g.53242859AC[11], NC_000001.10:g.53708531AC[5], NC_000001.10:g.53708531AC[6], NC_000001.10:g.53708531AC[8], NC_000001.10:g.53708531AC[9], NC_000001.10:g.53708531AC[10], NC_000001.10:g.53708531AC[11], NG_011517.2:g.90278GT[5], NG_011517.2:g.90278GT[6], NG_011517.2:g.90278GT[8], NG_011517.2:g.90278GT[9], NG_011517.2:g.90278GT[10], NG_011517.2:g.90278GT[11], NM_004631.5:c.*4146GT[5], NM_004631.5:c.*4146GT[6], NM_004631.5:c.*4146GT[8], NM_004631.5:c.*4146GT[9], NM_004631.5:c.*4146GT[10], NM_004631.5:c.*4146GT[11], NM_004631.4:c.*4146GT[5], NM_004631.4:c.*4146GT[6], NM_004631.4:c.*4146GT[8], NM_004631.4:c.*4146GT[9], NM_004631.4:c.*4146GT[10], NM_004631.4:c.*4146GT[11], NM_017522.5:c.*4146GT[5], NM_017522.5:c.*4146GT[6], NM_017522.5:c.*4146GT[8], NM_017522.5:c.*4146GT[9], NM_017522.5:c.*4146GT[10], NM_017522.5:c.*4146GT[11], NM_017522.4:c.*4146GT[5], NM_017522.4:c.*4146GT[6], NM_017522.4:c.*4146GT[8], NM_017522.4:c.*4146GT[9], NM_017522.4:c.*4146GT[10], NM_017522.4:c.*4146GT[11], NM_033300.4:c.*4146GT[5], NM_033300.4:c.*4146GT[6], NM_033300.4:c.*4146GT[8], NM_033300.4:c.*4146GT[9], NM_033300.4:c.*4146GT[10], NM_033300.4:c.*4146GT[11], NM_033300.3:c.*4146GT[5], NM_033300.3:c.*4146GT[6], NM_033300.3:c.*4146GT[8], NM_033300.3:c.*4146GT[9], NM_033300.3:c.*4146GT[10], NM_033300.3:c.*4146GT[11], NM_001018054.3:c.*4146GT[5], NM_001018054.3:c.*4146GT[6], NM_001018054.3:c.*4146GT[8], NM_001018054.3:c.*4146GT[9], NM_001018054.3:c.*4146GT[10], NM_001018054.3:c.*4146GT[11], NM_001018054.2:c.*4146GT[5], NM_001018054.2:c.*4146GT[6], NM_001018054.2:c.*4146GT[8], NM_001018054.2:c.*4146GT[9], NM_001018054.2:c.*4146GT[10], NM_001018054.2:c.*4146GT[11]
      3.

      rs1490446544 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        1:53238571 (GRCh38)
        1:53704243 (GRCh37)
        Canonical SPDI:
        NC_000001.11:53238570:G:A,NC_000001.11:53238570:G:T
        Gene:
        MAGOH (Varview), MAGOH-DT (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        HGVS:
        4.

        rs1490400075 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          1:53238517 (GRCh38)
          1:53704189 (GRCh37)
          Canonical SPDI:
          NC_000001.11:53238516:C:A
          Gene:
          MAGOH (Varview), MAGOH-DT (Varview)
          Functional Consequence:
          upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000023/6 (TOPMED)
          HGVS:
          5.

          rs1490338276 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            1:53241673 (GRCh38)
            1:53707345 (GRCh37)
            Canonical SPDI:
            NC_000001.11:53241672:T:A
            Gene:
            MAGOH-DT (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.00045/2 (ALFA)
            A=0.00045/2 (Estonian)
            A=0.00107/18 (TOMMO)
            A=0.01916/56 (KOREAN)
            HGVS:
            6.

            rs1490044970 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              A>- [Show Flanks]
              Chromosome:
              1:53240258 (GRCh38)
              1:53705930 (GRCh37)
              Canonical SPDI:
              NC_000001.11:53240257:AA:A
              Gene:
              MAGOH (Varview), MAGOH-DT (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              AA=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489214719 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                1:53241701 (GRCh38)
                1:53707373 (GRCh37)
                Canonical SPDI:
                NC_000001.11:53241700:A:C
                Gene:
                MAGOH-DT (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000019/5 (TOPMED)
                C=0.00005/7 (GnomAD)
                HGVS:
                8.

                rs1489202401 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  1:53242674 (GRCh38)
                  1:53708346 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:53242673:A:C
                  Gene:
                  LRP8 (Varview), MAGOH-DT (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489006708 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    1:53237673 (GRCh38)
                    1:53703345 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:53237672:C:A,NC_000001.11:53237672:C:T
                    Gene:
                    MAGOH (Varview), MAGOH-DT (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    A=0.10034/293 (KOREAN)
                    C=0.5/1 (SGDP_PRJ)
                    HGVS:
                    10.

                    rs1488531254 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      1:53239393 (GRCh38)
                      1:53705065 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:53239392:G:A,NC_000001.11:53239392:G:C
                      Gene:
                      MAGOH (Varview), MAGOH-DT (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488273950 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:53237020 (GRCh38)
                        1:53702692 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:53237019:A:G
                        Gene:
                        MAGOH (Varview), MAGOH-DT (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/1 (GnomAD)
                        HGVS:
                        12.

                        rs1488070253 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:53238512 (GRCh38)
                          1:53704184 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:53238511:C:T
                          Gene:
                          MAGOH (Varview), MAGOH-DT (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1487402912 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:53241809 (GRCh38)
                            1:53707481 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:53241808:A:G
                            Gene:
                            MAGOH-DT (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1487130895 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:53240179 (GRCh38)
                              1:53705851 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:53240178:A:G
                              Gene:
                              MAGOH (Varview), MAGOH-DT (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1487037079 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                T>- [Show Flanks]
                                Chromosome:
                                1:53241219 (GRCh38)
                                1:53706891 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:53241218:TT:T
                                Gene:
                                MAGOH-DT (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TT=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1486742995 has merged into rs144308373 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TATATATA>-,TA,TATA,TATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA [Show Flanks]
                                  Chromosome:
                                  1:53242852 (GRCh38)
                                  1:53708524 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA
                                  Gene:
                                  LRP8 (Varview), MAGOH-DT (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  ATATATATATATATATA=0./0 (ALFA)
                                  ATATATATATAT=0.000004/1 (TOPMED)
                                  -=0.035029/135 (ALSPAC)
                                  HGVS:
                                  NC_000001.11:g.53242838TA[7], NC_000001.11:g.53242838TA[8], NC_000001.11:g.53242838TA[9], NC_000001.11:g.53242838TA[10], NC_000001.11:g.53242838TA[12], NC_000001.11:g.53242838TA[13], NC_000001.11:g.53242838TA[14], NC_000001.11:g.53242838TA[15], NC_000001.11:g.53242838TA[17], NC_000001.11:g.53242838TA[18], NC_000001.10:g.53708510TA[7], NC_000001.10:g.53708510TA[8], NC_000001.10:g.53708510TA[9], NC_000001.10:g.53708510TA[10], NC_000001.10:g.53708510TA[12], NC_000001.10:g.53708510TA[13], NC_000001.10:g.53708510TA[14], NC_000001.10:g.53708510TA[15], NC_000001.10:g.53708510TA[17], NC_000001.10:g.53708510TA[18], NG_011517.2:g.90292AT[7], NG_011517.2:g.90292AT[8], NG_011517.2:g.90292AT[9], NG_011517.2:g.90292AT[10], NG_011517.2:g.90292AT[12], NG_011517.2:g.90292AT[13], NG_011517.2:g.90292AT[14], NG_011517.2:g.90292AT[15], NG_011517.2:g.90292AT[17], NG_011517.2:g.90292AT[18], NM_004631.5:c.*4160AT[7], NM_004631.5:c.*4160AT[8], NM_004631.5:c.*4160AT[9], NM_004631.5:c.*4160AT[10], NM_004631.5:c.*4160AT[12], NM_004631.5:c.*4160AT[13], NM_004631.5:c.*4160AT[14], NM_004631.5:c.*4160AT[15], NM_004631.5:c.*4160AT[17], NM_004631.5:c.*4160AT[18], NM_004631.4:c.*4160AT[7], NM_004631.4:c.*4160AT[8], NM_004631.4:c.*4160AT[9], NM_004631.4:c.*4160AT[10], NM_004631.4:c.*4160AT[12], NM_004631.4:c.*4160AT[13], NM_004631.4:c.*4160AT[14], NM_004631.4:c.*4160AT[15], NM_004631.4:c.*4160AT[17], NM_004631.4:c.*4160AT[18], NM_017522.5:c.*4160AT[7], NM_017522.5:c.*4160AT[8], NM_017522.5:c.*4160AT[9], NM_017522.5:c.*4160AT[10], NM_017522.5:c.*4160AT[12], NM_017522.5:c.*4160AT[13], NM_017522.5:c.*4160AT[14], NM_017522.5:c.*4160AT[15], NM_017522.5:c.*4160AT[17], NM_017522.5:c.*4160AT[18], NM_017522.4:c.*4160AT[7], NM_017522.4:c.*4160AT[8], NM_017522.4:c.*4160AT[9], NM_017522.4:c.*4160AT[10], NM_017522.4:c.*4160AT[12], NM_017522.4:c.*4160AT[13], NM_017522.4:c.*4160AT[14], NM_017522.4:c.*4160AT[15], NM_017522.4:c.*4160AT[17], NM_017522.4:c.*4160AT[18], NM_033300.4:c.*4160AT[7], NM_033300.4:c.*4160AT[8], NM_033300.4:c.*4160AT[9], NM_033300.4:c.*4160AT[10], NM_033300.4:c.*4160AT[12], NM_033300.4:c.*4160AT[13], NM_033300.4:c.*4160AT[14], NM_033300.4:c.*4160AT[15], NM_033300.4:c.*4160AT[17], NM_033300.4:c.*4160AT[18], NM_033300.3:c.*4160AT[7], NM_033300.3:c.*4160AT[8], NM_033300.3:c.*4160AT[9], NM_033300.3:c.*4160AT[10], NM_033300.3:c.*4160AT[12], NM_033300.3:c.*4160AT[13], NM_033300.3:c.*4160AT[14], NM_033300.3:c.*4160AT[15], NM_033300.3:c.*4160AT[17], NM_033300.3:c.*4160AT[18], NM_001018054.3:c.*4160AT[7], NM_001018054.3:c.*4160AT[8], NM_001018054.3:c.*4160AT[9], NM_001018054.3:c.*4160AT[10], NM_001018054.3:c.*4160AT[12], NM_001018054.3:c.*4160AT[13], NM_001018054.3:c.*4160AT[14], NM_001018054.3:c.*4160AT[15], NM_001018054.3:c.*4160AT[17], NM_001018054.3:c.*4160AT[18], NM_001018054.2:c.*4160AT[7], NM_001018054.2:c.*4160AT[8], NM_001018054.2:c.*4160AT[9], NM_001018054.2:c.*4160AT[10], NM_001018054.2:c.*4160AT[12], NM_001018054.2:c.*4160AT[13], NM_001018054.2:c.*4160AT[14], NM_001018054.2:c.*4160AT[15], NM_001018054.2:c.*4160AT[17], NM_001018054.2:c.*4160AT[18]
                                  17.

                                  rs1486052294 has merged into rs35099088 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
                                    Chromosome:
                                    1:53241660 (GRCh38)
                                    1:53707332 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:53241648:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                    Gene:
                                    MAGOH-DT (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAAAAAAAAAA=0./0 (ALFA)
                                    -=0.1821/912 (1000Genomes)
                                    HGVS:
                                    NC_000001.11:g.53241660_53241668del, NC_000001.11:g.53241661_53241668del, NC_000001.11:g.53241662_53241668del, NC_000001.11:g.53241664_53241668del, NC_000001.11:g.53241665_53241668del, NC_000001.11:g.53241666_53241668del, NC_000001.11:g.53241667_53241668del, NC_000001.11:g.53241668del, NC_000001.11:g.53241668dup, NC_000001.11:g.53241667_53241668dup, NC_000001.11:g.53241666_53241668dup, NC_000001.11:g.53241665_53241668dup, NC_000001.11:g.53241664_53241668dup, NC_000001.11:g.53241663_53241668dup, NC_000001.11:g.53241661_53241668dup, NC_000001.10:g.53707332_53707340del, NC_000001.10:g.53707333_53707340del, NC_000001.10:g.53707334_53707340del, NC_000001.10:g.53707336_53707340del, NC_000001.10:g.53707337_53707340del, NC_000001.10:g.53707338_53707340del, NC_000001.10:g.53707339_53707340del, NC_000001.10:g.53707340del, NC_000001.10:g.53707340dup, NC_000001.10:g.53707339_53707340dup, NC_000001.10:g.53707338_53707340dup, NC_000001.10:g.53707337_53707340dup, NC_000001.10:g.53707336_53707340dup, NC_000001.10:g.53707335_53707340dup, NC_000001.10:g.53707333_53707340dup, NG_011517.2:g.91493_91501del, NG_011517.2:g.91494_91501del, NG_011517.2:g.91495_91501del, NG_011517.2:g.91497_91501del, NG_011517.2:g.91498_91501del, NG_011517.2:g.91499_91501del, NG_011517.2:g.91500_91501del, NG_011517.2:g.91501del, NG_011517.2:g.91501dup, NG_011517.2:g.91500_91501dup, NG_011517.2:g.91499_91501dup, NG_011517.2:g.91498_91501dup, NG_011517.2:g.91497_91501dup, NG_011517.2:g.91496_91501dup, NG_011517.2:g.91494_91501dup
                                    18.

                                    rs1485010457 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:53242960 (GRCh38)
                                      1:53708632 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:53242959:A:G
                                      Gene:
                                      LRP8 (Varview), MAGOH-DT (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000019/5 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1484996994 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        1:53239143 (GRCh38)
                                        1:53704815 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:53239142:C:G
                                        Gene:
                                        MAGOH (Varview), MAGOH-DT (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000132/2 (ALFA)
                                        G=0.000014/2 (GnomAD)
                                        G=0.000446/2 (Estonian)
                                        HGVS:
                                        20.

                                        rs1484778617 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          1:53239246 (GRCh38)
                                          1:53704918 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:53239245:T:G
                                          Gene:
                                          MAGOH (Varview), MAGOH-DT (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000026/7 (TOPMED)
                                          G=0.000043/6 (GnomAD)
                                          G=0.001092/2 (Korea1K)
                                          HGVS:

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