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Items: 1 to 20 of 18862

1.

rs1491584445 has merged into rs56156448 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
    Chromosome:
    3:133409240 (GRCh38)
    3:133128084 (GRCh37)
    Canonical SPDI:
    NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:133409227:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
    Gene:
    BFSP2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GTGTGTGTGTGT=0./0 (ALFA)
    GT=0.471/2359 (1000Genomes)
    HGVS:
    NC_000003.12:g.133409228GT[6], NC_000003.12:g.133409228GT[7], NC_000003.12:g.133409228GT[8], NC_000003.12:g.133409228GT[9], NC_000003.12:g.133409228GT[10], NC_000003.12:g.133409228GT[11], NC_000003.12:g.133409228GT[12], NC_000003.12:g.133409228GT[13], NC_000003.12:g.133409228GT[14], NC_000003.12:g.133409228GT[16], NC_000003.12:g.133409228GT[17], NC_000003.12:g.133409228GT[18], NC_000003.12:g.133409228GT[19], NC_000003.12:g.133409228GT[20], NC_000003.12:g.133409228GT[21], NC_000003.12:g.133409228GT[22], NC_000003.12:g.133409228GT[23], NC_000003.12:g.133409228GT[24], NC_000003.12:g.133409228GT[25], NC_000003.12:g.133409228GT[26], NC_000003.12:g.133409228GT[27], NC_000003.12:g.133409228GT[28], NC_000003.11:g.133128072GT[6], NC_000003.11:g.133128072GT[7], NC_000003.11:g.133128072GT[8], NC_000003.11:g.133128072GT[9], NC_000003.11:g.133128072GT[10], NC_000003.11:g.133128072GT[11], NC_000003.11:g.133128072GT[12], NC_000003.11:g.133128072GT[13], NC_000003.11:g.133128072GT[14], NC_000003.11:g.133128072GT[16], NC_000003.11:g.133128072GT[17], NC_000003.11:g.133128072GT[18], NC_000003.11:g.133128072GT[19], NC_000003.11:g.133128072GT[20], NC_000003.11:g.133128072GT[21], NC_000003.11:g.133128072GT[22], NC_000003.11:g.133128072GT[23], NC_000003.11:g.133128072GT[24], NC_000003.11:g.133128072GT[25], NC_000003.11:g.133128072GT[26], NC_000003.11:g.133128072GT[27], NC_000003.11:g.133128072GT[28], NG_012425.1:g.14283GT[6], NG_012425.1:g.14283GT[7], NG_012425.1:g.14283GT[8], NG_012425.1:g.14283GT[9], NG_012425.1:g.14283GT[10], NG_012425.1:g.14283GT[11], NG_012425.1:g.14283GT[12], NG_012425.1:g.14283GT[13], NG_012425.1:g.14283GT[14], NG_012425.1:g.14283GT[16], NG_012425.1:g.14283GT[17], NG_012425.1:g.14283GT[18], NG_012425.1:g.14283GT[19], NG_012425.1:g.14283GT[20], NG_012425.1:g.14283GT[21], NG_012425.1:g.14283GT[22], NG_012425.1:g.14283GT[23], NG_012425.1:g.14283GT[24], NG_012425.1:g.14283GT[25], NG_012425.1:g.14283GT[26], NG_012425.1:g.14283GT[27], NG_012425.1:g.14283GT[28]

    2.

    rs1491515383 has merged into rs869185782 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GAGA>-,GA,GAGAGAGA [Show Flanks]
      Chromosome:
      3:133437646 (GRCh38)
      3:133156490 (GRCh37)
      Canonical SPDI:
      NC_000003.12:133437638:AGAGAGAGAGA:AGAGAGA,NC_000003.12:133437638:AGAGAGAGAGA:AGAGAGAGA,NC_000003.12:133437638:AGAGAGAGAGA:AGAGAGAGAGAGAGA
      Gene:
      BFSP2 (Varview), BFSP2-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AGAGAGAGA=0./0 (ALFA)
      -=0.000007/1 (GnomAD)
      HGVS:

      3.

      rs1491509096 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->CT [Show Flanks]
        Chromosome:
        3:133417937 (GRCh38)
        3:133136782 (GRCh37)
        Canonical SPDI:
        NC_000003.12:133417937::CT
        Gene:
        BFSP2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        CT=0./0 (ALFA)
        CT=0.000007/1 (GnomAD)
        HGVS:

        4.

        rs1491452404 has merged into rs748691333 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          3:133473449 (GRCh38)
          3:133192293 (GRCh37)
          Canonical SPDI:
          NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          BFSP2 (Varview), BFSP2-AS1 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000003.12:g.133473449_133473459del, NC_000003.12:g.133473450_133473459del, NC_000003.12:g.133473451_133473459del, NC_000003.12:g.133473452_133473459del, NC_000003.12:g.133473453_133473459del, NC_000003.12:g.133473454_133473459del, NC_000003.12:g.133473455_133473459del, NC_000003.12:g.133473456_133473459del, NC_000003.12:g.133473457_133473459del, NC_000003.12:g.133473458_133473459del, NC_000003.12:g.133473459del, NC_000003.12:g.133473459dup, NC_000003.12:g.133473458_133473459dup, NC_000003.12:g.133473457_133473459dup, NC_000003.12:g.133473456_133473459dup, NC_000003.12:g.133473455_133473459dup, NC_000003.12:g.133473454_133473459dup, NC_000003.12:g.133473453_133473459dup, NC_000003.12:g.133473452_133473459dup, NC_000003.11:g.133192293_133192303del, NC_000003.11:g.133192294_133192303del, NC_000003.11:g.133192295_133192303del, NC_000003.11:g.133192296_133192303del, NC_000003.11:g.133192297_133192303del, NC_000003.11:g.133192298_133192303del, NC_000003.11:g.133192299_133192303del, NC_000003.11:g.133192300_133192303del, NC_000003.11:g.133192301_133192303del, NC_000003.11:g.133192302_133192303del, NC_000003.11:g.133192303del, NC_000003.11:g.133192303dup, NC_000003.11:g.133192302_133192303dup, NC_000003.11:g.133192301_133192303dup, NC_000003.11:g.133192300_133192303dup, NC_000003.11:g.133192299_133192303dup, NC_000003.11:g.133192298_133192303dup, NC_000003.11:g.133192297_133192303dup, NC_000003.11:g.133192296_133192303dup, NG_012425.1:g.78504_78514del, NG_012425.1:g.78505_78514del, NG_012425.1:g.78506_78514del, NG_012425.1:g.78507_78514del, NG_012425.1:g.78508_78514del, NG_012425.1:g.78509_78514del, NG_012425.1:g.78510_78514del, NG_012425.1:g.78511_78514del, NG_012425.1:g.78512_78514del, NG_012425.1:g.78513_78514del, NG_012425.1:g.78514del, NG_012425.1:g.78514dup, NG_012425.1:g.78513_78514dup, NG_012425.1:g.78512_78514dup, NG_012425.1:g.78511_78514dup, NG_012425.1:g.78510_78514dup, NG_012425.1:g.78509_78514dup, NG_012425.1:g.78508_78514dup, NG_012425.1:g.78507_78514dup

          5.

          rs1491354209 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            AG>- [Show Flanks]
            Chromosome:
            3:133422823 (GRCh38)
            3:133141667 (GRCh37)
            Canonical SPDI:
            NC_000003.12:133422822:AG:
            Gene:
            BFSP2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.000011/3 (TOPMED)
            -=0.000039/2 (GnomAD)
            HGVS:

            6.

            rs1491343851 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              GA>- [Show Flanks]
              Chromosome:
              3:133411180 (GRCh38)
              3:133130024 (GRCh37)
              Canonical SPDI:
              NC_000003.12:133411179:GA:
              Gene:
              BFSP2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00051/6 (ALFA)
              HGVS:

              7.

              rs1491336403 has merged into rs942478693 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                G>-,GG [Show Flanks]
                Chromosome:
                3:133422824 (GRCh38)
                3:133141668 (GRCh37)
                Canonical SPDI:
                NC_000003.12:133422823:GGGGGG:GGGGG,NC_000003.12:133422823:GGGGGG:GGGGGGG
                Gene:
                BFSP2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GGGGGGG=0./0 (ALFA)
                -=0.00004/2 (GnomAD)
                HGVS:

                8.

                rs1491312582 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AA>- [Show Flanks]
                  Chromosome:
                  3:133437638 (GRCh38)
                  3:133156482 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:133437637:AA:
                  Gene:
                  BFSP2 (Varview), BFSP2-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1491287995 has merged into rs1465190660 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GG>-,G [Show Flanks]
                    Chromosome:
                    3:133425794 (GRCh38)
                    3:133144638 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:133425792:GGG:G,NC_000003.12:133425792:GGG:GG
                    Gene:
                    BFSP2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    -=0.000035/1 (TOMMO)
                    -=0.00031/40 (GnomAD)
                    -=0.000778/3 (ALSPAC)
                    -=0.001618/6 (TWINSUK)
                    -=0.003344/2 (NorthernSweden)
                    HGVS:

                    10.

                    rs1491221378 has merged into rs59331608 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      3:133466690 (GRCh38)
                      3:133185534 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133466677:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      BFSP2 (Varview), BFSP2-AS1 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAA=0./0 (ALFA)
                      AAAAAAAAAAAAAAAA=0.475/19 (GENOME_DK)
                      HGVS:
                      NC_000003.12:g.133466690_133466697del, NC_000003.12:g.133466691_133466697del, NC_000003.12:g.133466692_133466697del, NC_000003.12:g.133466693_133466697del, NC_000003.12:g.133466694_133466697del, NC_000003.12:g.133466695_133466697del, NC_000003.12:g.133466696_133466697del, NC_000003.12:g.133466697del, NC_000003.12:g.133466697dup, NC_000003.12:g.133466696_133466697dup, NC_000003.12:g.133466695_133466697dup, NC_000003.12:g.133466694_133466697dup, NC_000003.12:g.133466693_133466697dup, NC_000003.12:g.133466692_133466697dup, NC_000003.12:g.133466691_133466697dup, NC_000003.12:g.133466690_133466697dup, NC_000003.12:g.133466689_133466697dup, NC_000003.12:g.133466688_133466697dup, NC_000003.12:g.133466687_133466697dup, NC_000003.12:g.133466686_133466697dup, NC_000003.12:g.133466685_133466697dup, NC_000003.12:g.133466684_133466697dup, NC_000003.12:g.133466683_133466697dup, NC_000003.12:g.133466682_133466697dup, NC_000003.12:g.133466681_133466697dup, NC_000003.12:g.133466680_133466697dup, NC_000003.12:g.133466679_133466697dup, NC_000003.12:g.133466678_133466697dup, NC_000003.12:g.133466697_133466698insAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.133466697_133466698insAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.133466697_133466698insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.133185534_133185541del, NC_000003.11:g.133185535_133185541del, NC_000003.11:g.133185536_133185541del, NC_000003.11:g.133185537_133185541del, NC_000003.11:g.133185538_133185541del, NC_000003.11:g.133185539_133185541del, NC_000003.11:g.133185540_133185541del, NC_000003.11:g.133185541del, NC_000003.11:g.133185541dup, NC_000003.11:g.133185540_133185541dup, NC_000003.11:g.133185539_133185541dup, NC_000003.11:g.133185538_133185541dup, NC_000003.11:g.133185537_133185541dup, NC_000003.11:g.133185536_133185541dup, NC_000003.11:g.133185535_133185541dup, NC_000003.11:g.133185534_133185541dup, NC_000003.11:g.133185533_133185541dup, NC_000003.11:g.133185532_133185541dup, NC_000003.11:g.133185531_133185541dup, NC_000003.11:g.133185530_133185541dup, NC_000003.11:g.133185529_133185541dup, NC_000003.11:g.133185528_133185541dup, NC_000003.11:g.133185527_133185541dup, NC_000003.11:g.133185526_133185541dup, NC_000003.11:g.133185525_133185541dup, NC_000003.11:g.133185524_133185541dup, NC_000003.11:g.133185523_133185541dup, NC_000003.11:g.133185522_133185541dup, NC_000003.11:g.133185541_133185542insAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.133185541_133185542insAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.133185541_133185542insAAAAAAAAAAAAAAAAAAAAAAA, NG_012425.1:g.71745_71752del, NG_012425.1:g.71746_71752del, NG_012425.1:g.71747_71752del, NG_012425.1:g.71748_71752del, NG_012425.1:g.71749_71752del, NG_012425.1:g.71750_71752del, NG_012425.1:g.71751_71752del, NG_012425.1:g.71752del, NG_012425.1:g.71752dup, NG_012425.1:g.71751_71752dup, NG_012425.1:g.71750_71752dup, NG_012425.1:g.71749_71752dup, NG_012425.1:g.71748_71752dup, NG_012425.1:g.71747_71752dup, NG_012425.1:g.71746_71752dup, NG_012425.1:g.71745_71752dup, NG_012425.1:g.71744_71752dup, NG_012425.1:g.71743_71752dup, NG_012425.1:g.71742_71752dup, NG_012425.1:g.71741_71752dup, NG_012425.1:g.71740_71752dup, NG_012425.1:g.71739_71752dup, NG_012425.1:g.71738_71752dup, NG_012425.1:g.71737_71752dup, NG_012425.1:g.71736_71752dup, NG_012425.1:g.71735_71752dup, NG_012425.1:g.71734_71752dup, NG_012425.1:g.71733_71752dup, NG_012425.1:g.71752_71753insAAAAAAAAAAAAAAAAAAAAA, NG_012425.1:g.71752_71753insAAAAAAAAAAAAAAAAAAAAAA, NG_012425.1:g.71752_71753insAAAAAAAAAAAAAAAAAAAAAAA

                      11.

                      rs1491221354 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->GT [Show Flanks]
                        Chromosome:
                        3:133429755 (GRCh38)
                        3:133148600 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:133429755:T:TGT
                        Gene:
                        BFSP2 (Varview), BFSP2-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TGT=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1491193470 has merged into rs10599643 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
                          Chromosome:
                          3:133411191 (GRCh38)
                          3:133130035 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:133411180:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:133411180:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:133411180:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:133411180:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:133411180:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:133411180:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:133411180:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:133411180:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:133411180:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:133411180:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
                          Gene:
                          BFSP2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          AA=0.0152/76 (1000Genomes)
                          HGVS:
                          NC_000003.12:g.133411191_133411199del, NC_000003.12:g.133411194_133411199del, NC_000003.12:g.133411195_133411199del, NC_000003.12:g.133411196_133411199del, NC_000003.12:g.133411197_133411199del, NC_000003.12:g.133411198_133411199del, NC_000003.12:g.133411199del, NC_000003.12:g.133411199dup, NC_000003.12:g.133411198_133411199dup, NC_000003.12:g.133411197_133411199dup, NC_000003.11:g.133130035_133130043del, NC_000003.11:g.133130038_133130043del, NC_000003.11:g.133130039_133130043del, NC_000003.11:g.133130040_133130043del, NC_000003.11:g.133130041_133130043del, NC_000003.11:g.133130042_133130043del, NC_000003.11:g.133130043del, NC_000003.11:g.133130043dup, NC_000003.11:g.133130042_133130043dup, NC_000003.11:g.133130041_133130043dup, NG_012425.1:g.16246_16254del, NG_012425.1:g.16249_16254del, NG_012425.1:g.16250_16254del, NG_012425.1:g.16251_16254del, NG_012425.1:g.16252_16254del, NG_012425.1:g.16253_16254del, NG_012425.1:g.16254del, NG_012425.1:g.16254dup, NG_012425.1:g.16253_16254dup, NG_012425.1:g.16252_16254dup

                          13.

                          rs1491165151 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            CG>- [Show Flanks]
                            Chromosome:
                            3:133417937 (GRCh38)
                            3:133136781 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:133417936:CG:
                            Gene:
                            BFSP2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            -=0.00055/1 (Korea1K)
                            -=0.00074/12 (TOMMO)
                            HGVS:

                            14.

                            rs1491100410 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              ->AAAAAAAAAAATAAAAAAAAAAAAAAAAAAA
                              Chromosome:
                              no mapping
                              Canonical SPDI:

                              15.

                              rs1491079757 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                AT>- [Show Flanks]
                                Chromosome:
                                3:133425969 (GRCh38)
                                3:133144813 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:133425968:AT:
                                Gene:
                                BFSP2 (Varview), BFSP2-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0.00093/11 (ALFA)
                                -=0.00077/10 (TOMMO)
                                HGVS:

                                16.

                                rs1490973589 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  A>G
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:

                                  17.

                                  rs1490963812 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    3:133461592 (GRCh38)
                                    3:133180436 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:133461591:T:G
                                    Gene:
                                    BFSP2 (Varview), BFSP2-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490951715 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G,T [Show Flanks]
                                      Chromosome:
                                      3:133415132 (GRCh38)
                                      3:133133976 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:133415131:A:C,NC_000003.12:133415131:A:G,NC_000003.12:133415131:A:T
                                      Gene:
                                      BFSP2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      T=0.0001/2 (TOMMO)
                                      C=0.03814/111 (KOREAN)
                                      HGVS:

                                      19.

                                      rs1490945298 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        3:133446536 (GRCh38)
                                        3:133165380 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:133446535:C:A
                                        Gene:
                                        BFSP2 (Varview), BFSP2-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490929796 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          3:133445365 (GRCh38)
                                          3:133164209 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:133445364:C:A
                                          Gene:
                                          BFSP2 (Varview), BFSP2-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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