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Items: 1 to 20 of 2007

1.

rs1491544738 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GCCC,TCCC [Show Flanks]
    Chromosome:
    8:121642853 (GRCh38)
    8:122655094 (GRCh37)
    Canonical SPDI:
    NC_000008.11:121642853:CCC:CCCGCCC,NC_000008.11:121642853:CCC:CCCTCCC
    Gene:
    HAS2 (Varview), HAS2-AS1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCCGCCC=0.00017/2 (ALFA)
    CCCG=0.0025/16 (1000Genomes)
    CCCG=0.00579/73 (TOMMO)
    CCCG=0.00641/7 (Korea1K)
    HGVS:

    2.

    rs1491454435 has merged into rs71573616 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      8:121641171 (GRCh38)
      8:122653411 (GRCh37)
      Canonical SPDI:
      NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:121641158:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      HAS2 (Varview), HAS2-AS1 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000008.11:g.121641171_121641180del, NC_000008.11:g.121641173_121641180del, NC_000008.11:g.121641174_121641180del, NC_000008.11:g.121641175_121641180del, NC_000008.11:g.121641176_121641180del, NC_000008.11:g.121641177_121641180del, NC_000008.11:g.121641178_121641180del, NC_000008.11:g.121641179_121641180del, NC_000008.11:g.121641180del, NC_000008.11:g.121641180dup, NC_000008.11:g.121641179_121641180dup, NC_000008.11:g.121641178_121641180dup, NC_000008.11:g.121641177_121641180dup, NC_000008.11:g.121641176_121641180dup, NC_000008.11:g.121641175_121641180dup, NC_000008.11:g.121641174_121641180dup, NC_000008.11:g.121641173_121641180dup, NC_000008.11:g.121641159_121641180T[30]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.121641159_121641180T[30]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.121641159_121641180T[30]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.121641172_121641180dup, NC_000008.11:g.121641171_121641180dup, NC_000008.11:g.121641170_121641180dup, NC_000008.11:g.121641169_121641180dup, NC_000008.11:g.121641168_121641180dup, NC_000008.11:g.121641167_121641180dup, NC_000008.11:g.121641166_121641180dup, NC_000008.11:g.121641165_121641180dup, NC_000008.11:g.121641164_121641180dup, NC_000008.11:g.121641163_121641180dup, NC_000008.11:g.121641159_121641180T[40]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.121641162_121641180dup, NC_000008.11:g.121641161_121641180dup, NC_000008.11:g.121641160_121641180dup, NC_000008.11:g.121641159_121641180dup, NC_000008.11:g.121641180_121641181insTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.121641180_121641181insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.121641180_121641181insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.121641180_121641181insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.121641180_121641181insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.121641180_121641181insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.121641180_121641181insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.121641180_121641181insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.121641180_121641181insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.122653411_122653420del, NC_000008.10:g.122653413_122653420del, NC_000008.10:g.122653414_122653420del, NC_000008.10:g.122653415_122653420del, NC_000008.10:g.122653416_122653420del, NC_000008.10:g.122653417_122653420del, NC_000008.10:g.122653418_122653420del, NC_000008.10:g.122653419_122653420del, NC_000008.10:g.122653420del, NC_000008.10:g.122653420dup, NC_000008.10:g.122653419_122653420dup, NC_000008.10:g.122653418_122653420dup, NC_000008.10:g.122653417_122653420dup, NC_000008.10:g.122653416_122653420dup, NC_000008.10:g.122653415_122653420dup, NC_000008.10:g.122653414_122653420dup, NC_000008.10:g.122653413_122653420dup, NC_000008.10:g.122653399_122653420T[30]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.122653399_122653420T[30]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.122653399_122653420T[30]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.122653412_122653420dup, NC_000008.10:g.122653411_122653420dup, NC_000008.10:g.122653410_122653420dup, NC_000008.10:g.122653409_122653420dup, NC_000008.10:g.122653408_122653420dup, NC_000008.10:g.122653407_122653420dup, NC_000008.10:g.122653406_122653420dup, NC_000008.10:g.122653405_122653420dup, NC_000008.10:g.122653404_122653420dup, NC_000008.10:g.122653403_122653420dup, NC_000008.10:g.122653399_122653420T[40]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.122653402_122653420dup, NC_000008.10:g.122653401_122653420dup, NC_000008.10:g.122653400_122653420dup, NC_000008.10:g.122653399_122653420dup, NC_000008.10:g.122653420_122653421insTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.122653420_122653421insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.122653420_122653421insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.122653420_122653421insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.122653420_122653421insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.122653420_122653421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.122653420_122653421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.122653420_122653421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.122653420_122653421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_005328.3:c.-316_-307del, NM_005328.3:c.-314_-307del, NM_005328.3:c.-313_-307del, NM_005328.3:c.-312_-307del, NM_005328.3:c.-311_-307del, NM_005328.3:c.-310_-307del, NM_005328.3:c.-309_-307del, NM_005328.3:c.-308_-307del, NM_005328.3:c.-307del, NM_005328.3:c.-307dup, NM_005328.3:c.-308_-307dup, NM_005328.3:c.-309_-307dup, NM_005328.3:c.-310_-307dup, NM_005328.3:c.-311_-307dup, NM_005328.3:c.-312_-307dup, NM_005328.3:c.-313_-307dup, NM_005328.3:c.-314_-307dup, NM_005328.3:c.-328_-307A[23]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_005328.3:c.-328_-307A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_005328.3:c.-328_-307A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_005328.3:c.-315_-307dup, NM_005328.3:c.-316_-307dup, NM_005328.3:c.-317_-307dup, NM_005328.3:c.-318_-307dup, NM_005328.3:c.-319_-307dup, NM_005328.3:c.-320_-307dup, NM_005328.3:c.-321_-307dup, NM_005328.3:c.-322_-307dup, NM_005328.3:c.-323_-307dup, NM_005328.3:c.-324_-307dup, NM_005328.3:c.-328_-307A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_005328.3:c.-325_-307dup, NM_005328.3:c.-326_-307dup, NM_005328.3:c.-327_-307dup, NM_005328.3:c.-328_-307dup, NM_005328.3:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.3:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.3:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.3:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.3:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.3:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.3:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.3:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.3:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.2:c.-316_-307del, NM_005328.2:c.-314_-307del, NM_005328.2:c.-313_-307del, NM_005328.2:c.-312_-307del, NM_005328.2:c.-311_-307del, NM_005328.2:c.-310_-307del, NM_005328.2:c.-309_-307del, NM_005328.2:c.-308_-307del, NM_005328.2:c.-307del, NM_005328.2:c.-307dup, NM_005328.2:c.-308_-307dup, NM_005328.2:c.-309_-307dup, NM_005328.2:c.-310_-307dup, NM_005328.2:c.-311_-307dup, NM_005328.2:c.-312_-307dup, NM_005328.2:c.-313_-307dup, NM_005328.2:c.-314_-307dup, NM_005328.2:c.-328_-307A[23]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_005328.2:c.-328_-307A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_005328.2:c.-328_-307A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_005328.2:c.-315_-307dup, NM_005328.2:c.-316_-307dup, NM_005328.2:c.-317_-307dup, NM_005328.2:c.-318_-307dup, NM_005328.2:c.-319_-307dup, NM_005328.2:c.-320_-307dup, NM_005328.2:c.-321_-307dup, NM_005328.2:c.-322_-307dup, NM_005328.2:c.-323_-307dup, NM_005328.2:c.-324_-307dup, NM_005328.2:c.-328_-307A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_005328.2:c.-325_-307dup, NM_005328.2:c.-326_-307dup, NM_005328.2:c.-327_-307dup, NM_005328.2:c.-328_-307dup, NM_005328.2:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.2:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.2:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.2:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.2:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.2:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.2:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.2:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_005328.2:c.-307_-306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

      3.

      rs1491405607 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TGGG,TGTGTGGG,TGTGTGTGG,TGTGTGTGGG,TGTGTGTGTGG,TGTGTGTGTGGG,TGTGTGTGTGTGGG [Show Flanks]
        Chromosome:
        8:121640444 (GRCh38)
        8:122652685 (GRCh37)
        Canonical SPDI:
        NC_000008.11:121640444:G:GTGGG,NC_000008.11:121640444:G:GTGTGTGGG,NC_000008.11:121640444:G:GTGTGTGTGG,NC_000008.11:121640444:G:GTGTGTGTGGG,NC_000008.11:121640444:G:GTGTGTGTGTGG,NC_000008.11:121640444:G:GTGTGTGTGTGGG,NC_000008.11:121640444:G:GTGTGTGTGTGTGGG
        Gene:
        HAS2 (Varview), HAS2-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GTGTGTGGG=0./0 (ALFA)
        GTGG=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1491356628 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TA>- [Show Flanks]
          Chromosome:
          8:121641229 (GRCh38)
          8:122653469 (GRCh37)
          Canonical SPDI:
          NC_000008.11:121641228:TA:
          Gene:
          HAS2 (Varview), HAS2-AS1 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:

          5.

          rs1491306542 has merged into rs4004232 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            8:121641240 (GRCh38)
            8:122653480 (GRCh37)
            Canonical SPDI:
            NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:121641229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            HAS2 (Varview), HAS2-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,5_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAA=0./0 (ALFA)
            AAAA=0.425/17 (GENOME_DK)
            HGVS:
            NC_000008.11:g.121641240_121641254del, NC_000008.11:g.121641241_121641254del, NC_000008.11:g.121641245_121641254del, NC_000008.11:g.121641246_121641254del, NC_000008.11:g.121641247_121641254del, NC_000008.11:g.121641248_121641254del, NC_000008.11:g.121641249_121641254del, NC_000008.11:g.121641250_121641254del, NC_000008.11:g.121641251_121641254del, NC_000008.11:g.121641252_121641254del, NC_000008.11:g.121641253_121641254del, NC_000008.11:g.121641254del, NC_000008.11:g.121641254dup, NC_000008.11:g.121641253_121641254dup, NC_000008.11:g.121641252_121641254dup, NC_000008.11:g.121641251_121641254dup, NC_000008.11:g.121641249_121641254dup, NC_000008.11:g.121641247_121641254dup, NC_000008.10:g.122653480_122653494del, NC_000008.10:g.122653481_122653494del, NC_000008.10:g.122653485_122653494del, NC_000008.10:g.122653486_122653494del, NC_000008.10:g.122653487_122653494del, NC_000008.10:g.122653488_122653494del, NC_000008.10:g.122653489_122653494del, NC_000008.10:g.122653490_122653494del, NC_000008.10:g.122653491_122653494del, NC_000008.10:g.122653492_122653494del, NC_000008.10:g.122653493_122653494del, NC_000008.10:g.122653494del, NC_000008.10:g.122653494dup, NC_000008.10:g.122653493_122653494dup, NC_000008.10:g.122653492_122653494dup, NC_000008.10:g.122653491_122653494dup, NC_000008.10:g.122653489_122653494dup, NC_000008.10:g.122653487_122653494dup, NM_005328.3:c.-392_-378del, NM_005328.3:c.-391_-378del, NM_005328.3:c.-387_-378del, NM_005328.3:c.-386_-378del, NM_005328.3:c.-385_-378del, NM_005328.3:c.-384_-378del, NM_005328.3:c.-383_-378del, NM_005328.3:c.-382_-378del, NM_005328.3:c.-381_-378del, NM_005328.3:c.-380_-378del, NM_005328.3:c.-379_-378del, NM_005328.3:c.-378del, NM_005328.3:c.-378dup, NM_005328.3:c.-379_-378dup, NM_005328.3:c.-380_-378dup, NM_005328.3:c.-381_-378dup, NM_005328.3:c.-383_-378dup, NM_005328.3:c.-385_-378dup, NM_005328.2:c.-392_-378del, NM_005328.2:c.-391_-378del, NM_005328.2:c.-387_-378del, NM_005328.2:c.-386_-378del, NM_005328.2:c.-385_-378del, NM_005328.2:c.-384_-378del, NM_005328.2:c.-383_-378del, NM_005328.2:c.-382_-378del, NM_005328.2:c.-381_-378del, NM_005328.2:c.-380_-378del, NM_005328.2:c.-379_-378del, NM_005328.2:c.-378del, NM_005328.2:c.-378dup, NM_005328.2:c.-379_-378dup, NM_005328.2:c.-380_-378dup, NM_005328.2:c.-381_-378dup, NM_005328.2:c.-383_-378dup, NM_005328.2:c.-385_-378dup, NR_002835.2:n.874_888del, NR_002835.2:n.875_888del, NR_002835.2:n.879_888del, NR_002835.2:n.880_888del, NR_002835.2:n.881_888del, NR_002835.2:n.882_888del, NR_002835.2:n.883_888del, NR_002835.2:n.884_888del, NR_002835.2:n.885_888del, NR_002835.2:n.886_888del, NR_002835.2:n.887_888del, NR_002835.2:n.888del, NR_002835.2:n.888dup, NR_002835.2:n.887_888dup, NR_002835.2:n.886_888dup, NR_002835.2:n.885_888dup, NR_002835.2:n.883_888dup, NR_002835.2:n.881_888dup

            6.

            rs1491149204 has merged into rs200736285 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              8:121645470 (GRCh38)
              8:122657710 (GRCh37)
              Canonical SPDI:
              NC_000008.11:121645462:TTTTTTTTTTTTTT:TTTTTTT,NC_000008.11:121645462:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:121645462:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:121645462:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:121645462:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:121645462:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:121645462:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:121645462:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:121645462:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
              Gene:
              HAS2-AS1 (Varview)
              Functional Consequence:
              downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTT=0./0 (ALFA)
              -=0.15/6 (GENOME_DK)
              -=0.245/147 (NorthernSweden)
              T=0.49161/2462 (1000Genomes)
              HGVS:

              7.

              rs1491133536 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->AT [Show Flanks]
                Chromosome:
                8:121645463 (GRCh38)
                8:122657704 (GRCh37)
                Canonical SPDI:
                NC_000008.11:121645463:T:TAT
                Gene:
                HAS2-AS1 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                TAT=0.00008/1 (ALFA)
                HGVS:

                8.

                rs1491122359 has merged into rs1319055899 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CCCCCCC>-,CCCCC,CCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC [Show Flanks]
                  Chromosome:
                  8:121642855 (GRCh38)
                  8:122655095 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:121642852:CCCCCCCCC:CC,NC_000008.11:121642852:CCCCCCCCC:CCCCCCC,NC_000008.11:121642852:CCCCCCCCC:CCCCCCCC,NC_000008.11:121642852:CCCCCCCCC:CCCCCCCCCC,NC_000008.11:121642852:CCCCCCCCC:CCCCCCCCCCC,NC_000008.11:121642852:CCCCCCCCC:CCCCCCCCCCCC,NC_000008.11:121642852:CCCCCCCCC:CCCCCCCCCCCCC,NC_000008.11:121642852:CCCCCCCCC:CCCCCCCCCCCCCC,NC_000008.11:121642852:CCCCCCCCC:CCCCCCCCCCCCCCC,NC_000008.11:121642852:CCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000008.11:121642852:CCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000008.11:121642852:CCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000008.11:121642852:CCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000008.11:121642852:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC
                  Gene:
                  HAS2 (Varview), HAS2-AS1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CCCCCCCC=0./0 (ALFA)
                  HGVS:
                  NC_000008.11:g.121642855_121642861del, NC_000008.11:g.121642860_121642861del, NC_000008.11:g.121642861del, NC_000008.11:g.121642861dup, NC_000008.11:g.121642860_121642861dup, NC_000008.11:g.121642859_121642861dup, NC_000008.11:g.121642858_121642861dup, NC_000008.11:g.121642857_121642861dup, NC_000008.11:g.121642856_121642861dup, NC_000008.11:g.121642855_121642861dup, NC_000008.11:g.121642854_121642861dup, NC_000008.11:g.121642853_121642861dup, NC_000008.11:g.121642861_121642862insCCCCCCCCCC, NC_000008.11:g.121642861_121642862insCCCCCCCCCCCCC, NC_000008.10:g.122655095_122655101del, NC_000008.10:g.122655100_122655101del, NC_000008.10:g.122655101del, NC_000008.10:g.122655101dup, NC_000008.10:g.122655100_122655101dup, NC_000008.10:g.122655099_122655101dup, NC_000008.10:g.122655098_122655101dup, NC_000008.10:g.122655097_122655101dup, NC_000008.10:g.122655096_122655101dup, NC_000008.10:g.122655095_122655101dup, NC_000008.10:g.122655094_122655101dup, NC_000008.10:g.122655093_122655101dup, NC_000008.10:g.122655101_122655102insCCCCCCCCCC, NC_000008.10:g.122655101_122655102insCCCCCCCCCCCCC

                  9.

                  rs1491028461 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AA>- [Show Flanks]
                    Chromosome:
                    8:121641927 (GRCh38)
                    8:122654167 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:121641926:AA:
                    Gene:
                    HAS2 (Varview), HAS2-AS1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000022/3 (GnomAD)
                    HGVS:

                    10.

                    rs1490823621 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      8:121639908 (GRCh38)
                      8:122652148 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:121639907:G:A
                      Gene:
                      HAS2 (Varview), HAS2-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000008/2 (TOPMED)
                      HGVS:

                      11.

                      rs1490732630 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAGTGT>- [Show Flanks]
                        Chromosome:
                        8:121641927 (GRCh38)
                        8:122654167 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:121641922:GTGTAAGTGT:GTGT
                        Gene:
                        HAS2 (Varview), HAS2-AS1 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        GTGT=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1490569469 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CTT>- [Show Flanks]
                          Chromosome:
                          8:121641158 (GRCh38)
                          8:122653398 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:121641155:TTCTT:TT
                          Gene:
                          HAS2 (Varview), HAS2-AS1 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TT=0.00272/44 (ALFA)
                          -=0.00018/5 (TOMMO)
                          -=0.00608/463 (GnomAD)
                          HGVS:

                          13.

                          rs1490336536 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->ATTTT,T,TT [Show Flanks]
                            Chromosome:
                            8:121641148 (GRCh38)
                            8:122653389 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:121641148:TTTT:TTTTATTTT,NC_000008.11:121641148:TTTT:TTTTT,NC_000008.11:121641148:TTTT:TTTTTT
                            Gene:
                            HAS2 (Varview), HAS2-AS1 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TTTTTT=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1490066053 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              8:121643792 (GRCh38)
                              8:122656032 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:121643791:A:C
                              Gene:
                              HAS2-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1489632291 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->A [Show Flanks]
                                Chromosome:
                                8:121638582 (GRCh38)
                                8:122650823 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:121638582::A
                                Gene:
                                HAS2 (Varview), HAS2-AS1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000021/3 (GnomAD)
                                A=0.000023/6 (TOPMED)
                                HGVS:

                                16.

                                rs1489368979 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  8:121644427 (GRCh38)
                                  8:122656667 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:121644426:T:C
                                  Gene:
                                  HAS2-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000023/6 (TOPMED)
                                  C=0.000248/4 (TOMMO)
                                  HGVS:

                                  17.

                                  rs1489022100 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    8:121637874 (GRCh38)
                                    8:122650114 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:121637873:A:T
                                    Gene:
                                    HAS2 (Varview), HAS2-AS1 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000091/24 (TOPMED)
                                    T=0.000093/13 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1488423343 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      A>C
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:

                                      19.

                                      rs1488404198 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        8:121644086 (GRCh38)
                                        8:122656326 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:121644085:C:T
                                        Gene:
                                        HAS2-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000142/2 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1488359661 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          GGGC>- [Show Flanks]
                                          Chromosome:
                                          8:121641181 (GRCh38)
                                          8:122653421 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:121641180:GGGC:
                                          Gene:
                                          HAS2 (Varview), HAS2-AS1 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.00099/15 (TOMMO)
                                          -=0.03788/50 (Korea1K)
                                          HGVS:

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