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1.

rs1491558801 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->TTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Chromosome:
    no mapping
    Canonical SPDI:

    2.

    rs1491453551 has merged into rs1191560944 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      5:64538556 (GRCh38)
      5:63834383 (GRCh37)
      Canonical SPDI:
      NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:64538546:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      RGS7BP (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000005.10:g.64538556_64538574del, NC_000005.10:g.64538557_64538574del, NC_000005.10:g.64538559_64538574del, NC_000005.10:g.64538561_64538574del, NC_000005.10:g.64538562_64538574del, NC_000005.10:g.64538563_64538574del, NC_000005.10:g.64538564_64538574del, NC_000005.10:g.64538565_64538574del, NC_000005.10:g.64538566_64538574del, NC_000005.10:g.64538567_64538574del, NC_000005.10:g.64538568_64538574del, NC_000005.10:g.64538569_64538574del, NC_000005.10:g.64538570_64538574del, NC_000005.10:g.64538571_64538574del, NC_000005.10:g.64538572_64538574del, NC_000005.10:g.64538573_64538574del, NC_000005.10:g.64538574del, NC_000005.10:g.64538574dup, NC_000005.10:g.64538573_64538574dup, NC_000005.10:g.64538572_64538574dup, NC_000005.10:g.64538571_64538574dup, NC_000005.10:g.64538570_64538574dup, NC_000005.10:g.64538569_64538574dup, NC_000005.10:g.64538568_64538574dup, NC_000005.10:g.64538567_64538574dup, NC_000005.10:g.64538566_64538574dup, NC_000005.10:g.64538565_64538574dup, NC_000005.10:g.64538564_64538574dup, NC_000005.10:g.64538547_64538574T[39]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.64538547_64538574T[39]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.64538563_64538574dup, NC_000005.10:g.64538547_64538574T[40]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.64538547_64538574T[40]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.64538547_64538574T[40]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.64538562_64538574dup, NC_000005.10:g.64538561_64538574dup, NC_000005.10:g.64538560_64538574dup, NC_000005.10:g.64538559_64538574dup, NC_000005.10:g.64538547_64538574T[44]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.64538547_64538574T[44]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.64538558_64538574dup, NC_000005.10:g.64538547_64538574T[45]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.64538547_64538574T[45]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.64538557_64538574dup, NC_000005.10:g.64538556_64538574dup, NC_000005.10:g.64538555_64538574dup, NC_000005.10:g.64538554_64538574dup, NC_000005.10:g.64538553_64538574dup, NC_000005.10:g.64538552_64538574dup, NC_000005.10:g.64538551_64538574dup, NC_000005.10:g.64538550_64538574dup, NC_000005.10:g.64538549_64538574dup, NC_000005.10:g.64538548_64538574dup, NC_000005.10:g.64538547_64538574dup, NC_000005.10:g.64538574_64538575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.64538574_64538575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.64538574_64538575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.64538574_64538575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.64538574_64538575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.64538574_64538575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.64538574_64538575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.64538574_64538575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.63834383_63834401del, NC_000005.9:g.63834384_63834401del, NC_000005.9:g.63834386_63834401del, NC_000005.9:g.63834388_63834401del, NC_000005.9:g.63834389_63834401del, NC_000005.9:g.63834390_63834401del, NC_000005.9:g.63834391_63834401del, NC_000005.9:g.63834392_63834401del, NC_000005.9:g.63834393_63834401del, NC_000005.9:g.63834394_63834401del, NC_000005.9:g.63834395_63834401del, NC_000005.9:g.63834396_63834401del, NC_000005.9:g.63834397_63834401del, NC_000005.9:g.63834398_63834401del, NC_000005.9:g.63834399_63834401del, NC_000005.9:g.63834400_63834401del, NC_000005.9:g.63834401del, NC_000005.9:g.63834401dup, NC_000005.9:g.63834400_63834401dup, NC_000005.9:g.63834399_63834401dup, NC_000005.9:g.63834398_63834401dup, NC_000005.9:g.63834397_63834401dup, NC_000005.9:g.63834396_63834401dup, NC_000005.9:g.63834395_63834401dup, NC_000005.9:g.63834394_63834401dup, NC_000005.9:g.63834393_63834401dup, NC_000005.9:g.63834392_63834401dup, NC_000005.9:g.63834391_63834401dup, NC_000005.9:g.63834374_63834401T[39]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.63834374_63834401T[39]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.63834390_63834401dup, NC_000005.9:g.63834374_63834401T[40]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.63834374_63834401T[40]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.63834374_63834401T[40]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.63834389_63834401dup, NC_000005.9:g.63834388_63834401dup, NC_000005.9:g.63834387_63834401dup, NC_000005.9:g.63834386_63834401dup, NC_000005.9:g.63834374_63834401T[44]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.63834374_63834401T[44]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.63834385_63834401dup, NC_000005.9:g.63834374_63834401T[45]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.63834374_63834401T[45]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.63834384_63834401dup, NC_000005.9:g.63834383_63834401dup, NC_000005.9:g.63834382_63834401dup, NC_000005.9:g.63834381_63834401dup, NC_000005.9:g.63834380_63834401dup, NC_000005.9:g.63834379_63834401dup, NC_000005.9:g.63834378_63834401dup, NC_000005.9:g.63834377_63834401dup, NC_000005.9:g.63834376_63834401dup, NC_000005.9:g.63834375_63834401dup, NC_000005.9:g.63834374_63834401dup, NC_000005.9:g.63834401_63834402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.63834401_63834402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.63834401_63834402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.63834401_63834402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.63834401_63834402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.63834401_63834402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.63834401_63834402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.63834401_63834402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

      3.

      rs1491434842 has merged into rs60137744 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AA>- [Show Flanks]
        Chromosome:
        5:64560563 (GRCh38)
        5:63856390 (GRCh37)
        Canonical SPDI:
        NC_000005.10:64560562:AA:
        Gene:
        RGS7BP (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by cluster
        HGVS:

        4.

        rs1491422843 has merged into rs61488452 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          5:64528821 (GRCh38)
          5:63824648 (GRCh37)
          Canonical SPDI:
          NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:64528810:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          RGS7BP (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000005.10:g.64528821_64528837del, NC_000005.10:g.64528822_64528837del, NC_000005.10:g.64528823_64528837del, NC_000005.10:g.64528824_64528837del, NC_000005.10:g.64528825_64528837del, NC_000005.10:g.64528826_64528837del, NC_000005.10:g.64528827_64528837del, NC_000005.10:g.64528828_64528837del, NC_000005.10:g.64528829_64528837del, NC_000005.10:g.64528831_64528837del, NC_000005.10:g.64528832_64528837del, NC_000005.10:g.64528833_64528837del, NC_000005.10:g.64528834_64528837del, NC_000005.10:g.64528835_64528837del, NC_000005.10:g.64528836_64528837del, NC_000005.10:g.64528837del, NC_000005.10:g.64528837dup, NC_000005.10:g.64528836_64528837dup, NC_000005.10:g.64528835_64528837dup, NC_000005.10:g.64528834_64528837dup, NC_000005.10:g.64528833_64528837dup, NC_000005.10:g.64528828_64528837dup, NC_000005.10:g.64528825_64528837dup, NC_000005.10:g.64528837_64528838insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.63824648_63824664del, NC_000005.9:g.63824649_63824664del, NC_000005.9:g.63824650_63824664del, NC_000005.9:g.63824651_63824664del, NC_000005.9:g.63824652_63824664del, NC_000005.9:g.63824653_63824664del, NC_000005.9:g.63824654_63824664del, NC_000005.9:g.63824655_63824664del, NC_000005.9:g.63824656_63824664del, NC_000005.9:g.63824658_63824664del, NC_000005.9:g.63824659_63824664del, NC_000005.9:g.63824660_63824664del, NC_000005.9:g.63824661_63824664del, NC_000005.9:g.63824662_63824664del, NC_000005.9:g.63824663_63824664del, NC_000005.9:g.63824664del, NC_000005.9:g.63824664dup, NC_000005.9:g.63824663_63824664dup, NC_000005.9:g.63824662_63824664dup, NC_000005.9:g.63824661_63824664dup, NC_000005.9:g.63824660_63824664dup, NC_000005.9:g.63824655_63824664dup, NC_000005.9:g.63824652_63824664dup, NC_000005.9:g.63824664_63824665insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

          5.

          rs1491342426 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            5:64528810 (GRCh38)
            5:63824637 (GRCh37)
            Canonical SPDI:
            NC_000005.10:64528809:CA:
            Gene:
            RGS7BP (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.00008/1 (ALFA)
            HGVS:

            6.

            rs1491213180 has merged into rs1438872921 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AA>-,AAAA [Show Flanks]
              Chromosome:
              5:64556463 (GRCh38)
              5:63852290 (GRCh37)
              Canonical SPDI:
              NC_000005.10:64556460:AAAA:AA,NC_000005.10:64556460:AAAA:AAAAAA
              Gene:
              RGS7BP (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAA=0.00008/1 (ALFA)
              HGVS:

              7.

              rs1491175063 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CT>- [Show Flanks]
                Chromosome:
                5:64506809 (GRCh38)
                5:63802636 (GRCh37)
                Canonical SPDI:
                NC_000005.10:64506806:CTCT:CT
                Gene:
                RGS7BP (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency
                MAF:
                -=0./0 (ExAC)
                HGVS:

                8.

                rs1491167656 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->AA [Show Flanks]
                  Chromosome:
                  5:64590236 (GRCh38)
                  5:63886064 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:64590236:A:AAA
                  Gene:
                  RGS7BP (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  AAA=0./0 (ALFA)
                  AA=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1491069517 has merged into rs140297030 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CACACACACA>-,CA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA [Show Flanks]
                    Chromosome:
                    5:64515725 (GRCh38)
                    5:63811552 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACA,NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACA,NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACA,NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000005.10:64515711:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA
                    Gene:
                    RGS7BP (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ACACACACACACACA=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1490997190 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      5:64579569 (GRCh38)
                      5:63875396 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:64579568:G:A
                      Gene:
                      RGS7BP (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.00008/1 (ALFA)
                      A=0.01027/30 (KOREAN)
                      A=0.01364/229 (TOMMO)
                      G=0.5/1 (SGDP_PRJ)
                      HGVS:

                      11.

                      rs1490993624 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        5:64607103 (GRCh38)
                        5:63902930 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:64607102:T:C
                        Gene:
                        RGS7BP (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        HGVS:

                        12.

                        rs1490984663 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          5:64528895 (GRCh38)
                          5:63824722 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:64528894:A:G
                          Gene:
                          RGS7BP (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1490968067 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TATAGA>- [Show Flanks]
                            Chromosome:
                            5:64606037 (GRCh38)
                            5:63901864 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:64606035:ATATAGA:A
                            Gene:
                            RGS7BP (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            -=0.000035/4 (GnomAD)
                            HGVS:

                            14.

                            rs1490952106 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              5:64512028 (GRCh38)
                              5:63807855 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:64512027:G:A
                              Gene:
                              RGS7BP (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000015/4 (TOPMED)
                              HGVS:

                              15.

                              rs1490934236 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                5:64542877 (GRCh38)
                                5:63838704 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:64542876:C:G
                                Gene:
                                RGS7BP (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:

                                16.

                                rs1490867134 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  5:64562292 (GRCh38)
                                  5:63858119 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:64562291:G:A
                                  Gene:
                                  RGS7BP (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490860728 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    5:64503826 (GRCh38)
                                    5:63799653 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:64503825:G:A
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490827036 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      5:64554786 (GRCh38)
                                      5:63850613 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:64554785:A:G
                                      Gene:
                                      RGS7BP (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490771542 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        5:64553461 (GRCh38)
                                        5:63849288 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:64553460:C:G
                                        Gene:
                                        RGS7BP (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490686682 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          5:64572363 (GRCh38)
                                          5:63868190 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:64572362:A:G
                                          Gene:
                                          RGS7BP (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000011/3 (TOPMED)
                                          HGVS:

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