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1.

rs1491585231 has merged into rs71184902 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    22:42517350 (GRCh38)
    22:42913356 (GRCh37)
    Canonical SPDI:
    NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42517342:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    RRP7A (Varview), LOC124900479 (Varview)
    Functional Consequence:
    2KB_upstream_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAA=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.319688/1601 (1000Genomes)
    HGVS:
    NC_000022.11:g.42517350_42517366del, NC_000022.11:g.42517353_42517366del, NC_000022.11:g.42517354_42517366del, NC_000022.11:g.42517356_42517366del, NC_000022.11:g.42517357_42517366del, NC_000022.11:g.42517358_42517366del, NC_000022.11:g.42517359_42517366del, NC_000022.11:g.42517360_42517366del, NC_000022.11:g.42517361_42517366del, NC_000022.11:g.42517362_42517366del, NC_000022.11:g.42517363_42517366del, NC_000022.11:g.42517364_42517366del, NC_000022.11:g.42517365_42517366del, NC_000022.11:g.42517366del, NC_000022.11:g.42517366dup, NC_000022.11:g.42517365_42517366dup, NC_000022.11:g.42517364_42517366dup, NC_000022.11:g.42517363_42517366dup, NC_000022.11:g.42517362_42517366dup, NC_000022.11:g.42517361_42517366dup, NC_000022.11:g.42517352_42517366dup, NC_000022.11:g.42517351_42517366dup, NC_000022.11:g.42517366_42517367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.42517343_42517366A[36]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000022.10:g.42913356_42913372del, NC_000022.10:g.42913359_42913372del, NC_000022.10:g.42913360_42913372del, NC_000022.10:g.42913362_42913372del, NC_000022.10:g.42913363_42913372del, NC_000022.10:g.42913364_42913372del, NC_000022.10:g.42913365_42913372del, NC_000022.10:g.42913366_42913372del, NC_000022.10:g.42913367_42913372del, NC_000022.10:g.42913368_42913372del, NC_000022.10:g.42913369_42913372del, NC_000022.10:g.42913370_42913372del, NC_000022.10:g.42913371_42913372del, NC_000022.10:g.42913372del, NC_000022.10:g.42913372dup, NC_000022.10:g.42913371_42913372dup, NC_000022.10:g.42913370_42913372dup, NC_000022.10:g.42913369_42913372dup, NC_000022.10:g.42913368_42913372dup, NC_000022.10:g.42913367_42913372dup, NC_000022.10:g.42913358_42913372dup, NC_000022.10:g.42913357_42913372dup, NC_000022.10:g.42913372_42913373insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.42913349_42913372A[36]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

    2.

    rs1491572797 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A,AA [Show Flanks]
      Chromosome:
      22:42508312 (GRCh38)
      22:42904319 (GRCh37)
      Canonical SPDI:
      NC_000022.11:42508312::A,NC_000022.11:42508312::AA
      Gene:
      RRP7A (Varview), SERHL (Varview)
      Functional Consequence:
      downstream_transcript_variant,intron_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AA=0./0 (ALFA)
      A=0.00089/15 (TOMMO)
      HGVS:

      3.

      rs1491570577 has merged into rs1555985853 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->AGTGTGTGTGTGTGTGTGTGTGTGTG,GGGGGGTGTGTGTGTGTGTG,GGGGTGTGTGTGTG,GGGGTGTGTGTGTGTG,GGGGTGTGTGTGTGTGTG,GGGGTGTGTGTGTGTGTGTGTG,GGTG,GGTGTGTGTGTG,GGTGTGTGTGTGTG,GGTGTGTGTGTGTGTG,GGTGTGTGTGTGTGTGTG,GGTGTGTGTGTGTGTGTGTG,GGTGTGTGTGTGTGTGTGTGTG,GGTGTGTGTGTGTGTGTGTGTGTG,GGTGTGTGTGTGTGTGTGTGTGTGTG,GGTGTGTGTGTGTGTGTGTGTGTGTGTG,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
        Chromosome:
        22:42509850 (GRCh38)
        22:42905857 (GRCh37)
        Canonical SPDI:
        NC_000022.11:42509850:G:GAGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGGGGGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGGGTGTGTGTGTG,NC_000022.11:42509850:G:GGGGGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGGGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGGGTGTGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGTG,NC_000022.11:42509850:G:GGGTGTGTGTGTG,NC_000022.11:42509850:G:GGGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGTGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGTGTGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:42509850:G:GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
        Gene:
        RRP7A (Varview), SERHL (Varview)
        Functional Consequence:
        3_prime_UTR_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GGGGGTGTGTGTGTGTG=0./0 (ALFA)
        GGTGTGTGTGTGTGTGTGTGTGTGT=0.000004/1 (TOPMED)
        HGVS:
        NC_000022.11:g.42509851_42509852insAGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.11:g.42509851G[7]TG[7], NC_000022.11:g.42509851G[5]TG[5], NC_000022.11:g.42509851G[5]TG[6], NC_000022.11:g.42509851G[5]TG[7], NC_000022.11:g.42509851G[5]TG[9], NC_000022.11:g.42509851_42509852insGGTG, NC_000022.11:g.42509851_42509852insGGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGGTGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGGTGTGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGGTGTGTGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGGTGTGTGTGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGGTGTGTGTGTGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGGTGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.11:g.42509851_42509852insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insAGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.10:g.42905857G[7]TG[7], NC_000022.10:g.42905857G[5]TG[5], NC_000022.10:g.42905857G[5]TG[6], NC_000022.10:g.42905857G[5]TG[7], NC_000022.10:g.42905857G[5]TG[9], NC_000022.10:g.42905857_42905858insGGTG, NC_000022.10:g.42905857_42905858insGGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGGTGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGGTGTGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGGTGTGTGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGGTGTGTGTGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGGTGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000022.10:g.42905857_42905858insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG, NM_015703.5:c.*3059CA[12]CTC[1], NM_015703.5:c.*3059CA[7]C[7], NM_015703.5:c.*3059CA[5]C[5], NM_015703.5:c.*3059CA[6]C[5], NM_015703.5:c.*3059CA[7]C[5], NM_015703.5:c.*3059CA[9]C[5], NM_015703.5:c.*3059_*3060insACCC, NM_015703.5:c.*3059CA[5]CCC[1], NM_015703.5:c.*3059CA[6]CCC[1], NM_015703.5:c.*3059CA[7]CCC[1], NM_015703.5:c.*3059CA[8]CCC[1], NM_015703.5:c.*3059CA[9]CCC[1], NM_015703.5:c.*3059CA[10]CCC[1], NM_015703.5:c.*3059CA[11]CCC[1], NM_015703.5:c.*3059CA[12]CCC[1], NM_015703.5:c.*3059CA[13]CCC[1], NM_015703.5:c.*3059CA[14]CCC[1], NM_015703.5:c.*3059CA[15]CCC[1], NM_015703.5:c.*3059CA[16]CCC[1], NM_015703.5:c.*3059CA[18]CCC[1], NM_015703.5:c.*3059CA[11]CC[1], NM_015703.5:c.*3059CA[12]CC[1], NM_015703.5:c.*3059CA[17]CC[1], NM_015703.4:c.*3059CA[12]CTC[1], NM_015703.4:c.*3059CA[7]C[7], NM_015703.4:c.*3059CA[5]C[5], NM_015703.4:c.*3059CA[6]C[5], NM_015703.4:c.*3059CA[7]C[5], NM_015703.4:c.*3059CA[9]C[5], NM_015703.4:c.*3059_*3060insACCC, NM_015703.4:c.*3059CA[5]CCC[1], NM_015703.4:c.*3059CA[6]CCC[1], NM_015703.4:c.*3059CA[7]CCC[1], NM_015703.4:c.*3059CA[8]CCC[1], NM_015703.4:c.*3059CA[9]CCC[1], NM_015703.4:c.*3059CA[10]CCC[1], NM_015703.4:c.*3059CA[11]CCC[1], NM_015703.4:c.*3059CA[12]CCC[1], NM_015703.4:c.*3059CA[13]CCC[1], NM_015703.4:c.*3059CA[14]CCC[1], NM_015703.4:c.*3059CA[15]CCC[1], NM_015703.4:c.*3059CA[16]CCC[1], NM_015703.4:c.*3059CA[18]CCC[1], NM_015703.4:c.*3059CA[11]CC[1], NM_015703.4:c.*3059CA[12]CC[1], NM_015703.4:c.*3059CA[17]CC[1]

        4.

        rs1491538312 has merged into rs144187064 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGGGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
          Chromosome:
          22:42509859 (GRCh38)
          22:42905865 (GRCh37)
          Canonical SPDI:
          NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGGGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000022.11:42509850:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
          Gene:
          RRP7A (Varview), SERHL (Varview)
          Functional Consequence:
          intron_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GTGTGTGT=0./0 (ALFA)
          HGVS:
          NC_000022.11:g.42509851GT[4], NC_000022.11:g.42509851GT[5], NC_000022.11:g.42509851GT[6], NC_000022.11:g.42509851GT[7], NC_000022.11:g.42509851GT[8], NC_000022.11:g.42509851_42509868GT[9]GGGTGTGTGTGTGTGTGTGTGT[1], NC_000022.11:g.42509851GT[10], NC_000022.11:g.42509851GT[11], NC_000022.11:g.42509851GT[12], NC_000022.11:g.42509851GT[13], NC_000022.11:g.42509851GT[14], NC_000022.11:g.42509851GT[15], NC_000022.11:g.42509851GT[16], NC_000022.11:g.42509851GT[17], NC_000022.11:g.42509851GT[18], NC_000022.11:g.42509851GT[19], NC_000022.11:g.42509851GT[20], NC_000022.11:g.42509851GT[21], NC_000022.11:g.42509851GT[22], NC_000022.11:g.42509851GT[23], NC_000022.11:g.42509851GT[24], NC_000022.11:g.42509851GT[25], NC_000022.11:g.42509851GT[26], NC_000022.11:g.42509851GT[27], NC_000022.11:g.42509851GT[28], NC_000022.11:g.42509851GT[29], NC_000022.11:g.42509851GT[30], NC_000022.11:g.42509851GT[31], NC_000022.11:g.42509851GT[32], NC_000022.11:g.42509851GT[33], NC_000022.11:g.42509851GT[34], NC_000022.11:g.42509851GT[35], NC_000022.10:g.42905857GT[4], NC_000022.10:g.42905857GT[5], NC_000022.10:g.42905857GT[6], NC_000022.10:g.42905857GT[7], NC_000022.10:g.42905857GT[8], NC_000022.10:g.42905857_42905874GT[9]GGGTGTGTGTGTGTGTGTGTGT[1], NC_000022.10:g.42905857GT[10], NC_000022.10:g.42905857GT[11], NC_000022.10:g.42905857GT[12], NC_000022.10:g.42905857GT[13], NC_000022.10:g.42905857GT[14], NC_000022.10:g.42905857GT[15], NC_000022.10:g.42905857GT[16], NC_000022.10:g.42905857GT[17], NC_000022.10:g.42905857GT[18], NC_000022.10:g.42905857GT[19], NC_000022.10:g.42905857GT[20], NC_000022.10:g.42905857GT[21], NC_000022.10:g.42905857GT[22], NC_000022.10:g.42905857GT[23], NC_000022.10:g.42905857GT[24], NC_000022.10:g.42905857GT[25], NC_000022.10:g.42905857GT[26], NC_000022.10:g.42905857GT[27], NC_000022.10:g.42905857GT[28], NC_000022.10:g.42905857GT[29], NC_000022.10:g.42905857GT[30], NC_000022.10:g.42905857GT[31], NC_000022.10:g.42905857GT[32], NC_000022.10:g.42905857GT[33], NC_000022.10:g.42905857GT[34], NC_000022.10:g.42905857GT[35], NM_015703.5:c.*3042AC[4], NM_015703.5:c.*3042AC[5], NM_015703.5:c.*3042AC[6], NM_015703.5:c.*3042AC[7], NM_015703.5:c.*3042AC[8], NM_015703.5:c.*3042_*3059AC[10]CCACACACACACACACACAC[1], NM_015703.5:c.*3042AC[10], NM_015703.5:c.*3042AC[11], NM_015703.5:c.*3042AC[12], NM_015703.5:c.*3042AC[13], NM_015703.5:c.*3042AC[14], NM_015703.5:c.*3042AC[15], NM_015703.5:c.*3042AC[16], NM_015703.5:c.*3042AC[17], NM_015703.5:c.*3042AC[18], NM_015703.5:c.*3042AC[19], NM_015703.5:c.*3042AC[20], NM_015703.5:c.*3042AC[21], NM_015703.5:c.*3042AC[22], NM_015703.5:c.*3042AC[23], NM_015703.5:c.*3042AC[24], NM_015703.5:c.*3042AC[25], NM_015703.5:c.*3042AC[26], NM_015703.5:c.*3042AC[27], NM_015703.5:c.*3042AC[28], NM_015703.5:c.*3042AC[29], NM_015703.5:c.*3042AC[30], NM_015703.5:c.*3042AC[31], NM_015703.5:c.*3042AC[32], NM_015703.5:c.*3042AC[33], NM_015703.5:c.*3042AC[34], NM_015703.5:c.*3042AC[35], NM_015703.4:c.*3042AC[4], NM_015703.4:c.*3042AC[5], NM_015703.4:c.*3042AC[6], NM_015703.4:c.*3042AC[7], NM_015703.4:c.*3042AC[8], NM_015703.4:c.*3042_*3059AC[10]CCACACACACACACACACAC[1], NM_015703.4:c.*3042AC[10], NM_015703.4:c.*3042AC[11], NM_015703.4:c.*3042AC[12], NM_015703.4:c.*3042AC[13], NM_015703.4:c.*3042AC[14], NM_015703.4:c.*3042AC[15], NM_015703.4:c.*3042AC[16], NM_015703.4:c.*3042AC[17], NM_015703.4:c.*3042AC[18], NM_015703.4:c.*3042AC[19], NM_015703.4:c.*3042AC[20], NM_015703.4:c.*3042AC[21], NM_015703.4:c.*3042AC[22], NM_015703.4:c.*3042AC[23], NM_015703.4:c.*3042AC[24], NM_015703.4:c.*3042AC[25], NM_015703.4:c.*3042AC[26], NM_015703.4:c.*3042AC[27], NM_015703.4:c.*3042AC[28], NM_015703.4:c.*3042AC[29], NM_015703.4:c.*3042AC[30], NM_015703.4:c.*3042AC[31], NM_015703.4:c.*3042AC[32], NM_015703.4:c.*3042AC[33], NM_015703.4:c.*3042AC[34], NM_015703.4:c.*3042AC[35]

          5.

          rs1491225547 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            GC>-
            Chromosome:
            no mapping
            Canonical SPDI:

            6.

            rs1491121596 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              22:42508313 (GRCh38)
              22:42904319 (GRCh37)
              Canonical SPDI:
              NC_000022.11:42508312:CA:
              Gene:
              RRP7A (Varview), SERHL (Varview)
              Functional Consequence:
              downstream_transcript_variant,intron_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1491016909 has merged into rs57374135 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                22:42508323 (GRCh38)
                22:42904329 (GRCh37)
                Canonical SPDI:
                NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:42508313:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                RRP7A (Varview), SERHL (Varview)
                Functional Consequence:
                downstream_transcript_variant,intron_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAA=0./0 (ALFA)
                -=0.4337/2172 (1000Genomes)
                HGVS:
                NC_000022.11:g.42508323_42508332del, NC_000022.11:g.42508324_42508332del, NC_000022.11:g.42508325_42508332del, NC_000022.11:g.42508326_42508332del, NC_000022.11:g.42508327_42508332del, NC_000022.11:g.42508328_42508332del, NC_000022.11:g.42508329_42508332del, NC_000022.11:g.42508330_42508332del, NC_000022.11:g.42508331_42508332del, NC_000022.11:g.42508332del, NC_000022.11:g.42508332dup, NC_000022.11:g.42508331_42508332dup, NC_000022.11:g.42508330_42508332dup, NC_000022.11:g.42508329_42508332dup, NC_000022.11:g.42508328_42508332dup, NC_000022.11:g.42508327_42508332dup, NC_000022.11:g.42508326_42508332dup, NC_000022.11:g.42508324_42508332dup, NC_000022.11:g.42508323_42508332dup, NC_000022.11:g.42508332_42508333insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.42904329_42904338del, NC_000022.10:g.42904330_42904338del, NC_000022.10:g.42904331_42904338del, NC_000022.10:g.42904332_42904338del, NC_000022.10:g.42904333_42904338del, NC_000022.10:g.42904334_42904338del, NC_000022.10:g.42904335_42904338del, NC_000022.10:g.42904336_42904338del, NC_000022.10:g.42904337_42904338del, NC_000022.10:g.42904338del, NC_000022.10:g.42904338dup, NC_000022.10:g.42904337_42904338dup, NC_000022.10:g.42904336_42904338dup, NC_000022.10:g.42904335_42904338dup, NC_000022.10:g.42904334_42904338dup, NC_000022.10:g.42904333_42904338dup, NC_000022.10:g.42904332_42904338dup, NC_000022.10:g.42904330_42904338dup, NC_000022.10:g.42904329_42904338dup, NC_000022.10:g.42904338_42904339insAAAAAAAAAAAAAAAAAAAAAAAAA

                8.

                rs1490929028 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  22:42511986 (GRCh38)
                  22:42907992 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:42511985:G:A,NC_000022.11:42511985:G:T
                  Gene:
                  RRP7A (Varview), SERHL (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1490739543 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTA>- [Show Flanks]
                    Chromosome:
                    22:42511352 (GRCh38)
                    22:42907358 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:42511349:TATTTTTA:TA
                    Gene:
                    RRP7A (Varview), SERHL (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TA=0./0 (ALFA)
                    -=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1490573114 has merged into rs775475843 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TGGCTGGCTGGC>-,TGGCTGGC,TGGCTGGCTGGCTGGC,TGGCTGGCTGGCTGGCTGGC [Show Flanks]
                      Chromosome:
                      22:42511700 (GRCh38)
                      22:42907706 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:42511695:TGGCTGGCTGGCTGGC:TGGC,NC_000022.11:42511695:TGGCTGGCTGGCTGGC:TGGCTGGCTGGC,NC_000022.11:42511695:TGGCTGGCTGGCTGGC:TGGCTGGCTGGCTGGCTGGC,NC_000022.11:42511695:TGGCTGGCTGGCTGGC:TGGCTGGCTGGCTGGCTGGCTGGC
                      Gene:
                      RRP7A (Varview), SERHL (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TGGC=0./0 (ALFA)
                      -=0./0 (TWINSUK)
                      -=0.00078/3 (ALSPAC)
                      HGVS:

                      11.

                      rs1490222808 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G,T [Show Flanks]
                        Chromosome:
                        22:42510467 (GRCh38)
                        22:42906473 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:42510466:C:A,NC_000022.11:42510466:C:G,NC_000022.11:42510466:C:T
                        Gene:
                        RRP7A (Varview), SERHL (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1489992543 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          22:42515270 (GRCh38)
                          22:42911276 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:42515269:T:C
                          Gene:
                          RRP7A (Varview)
                          Functional Consequence:
                          splice_acceptor_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1489955527 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            22:42513801 (GRCh38)
                            22:42909807 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:42513800:G:A
                            Gene:
                            RRP7A (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000021/3 (GnomAD)
                            A=0.000212/4 (TOMMO)
                            HGVS:

                            14.

                            rs1489801518 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              22:42520759 (GRCh38)
                              22:42916765 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:42520758:A:G
                              Gene:
                              RRP7A (Varview), LOC124900479 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,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:

                              15.

                              rs1489746617 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                22:42512531 (GRCh38)
                                22:42908537 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:42512530:G:C
                                Gene:
                                RRP7A (Varview), SERHL (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1489729031 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->C [Show Flanks]
                                  Chromosome:
                                  22:42512689 (GRCh38)
                                  22:42908696 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:42512689:C:CC
                                  Gene:
                                  RRP7A (Varview), SERHL (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  CC=0./0 (ALFA)
                                  C=0.000011/3 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1489647560 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C,T [Show Flanks]
                                    Chromosome:
                                    22:42520317 (GRCh38)
                                    22:42916323 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:42520316:G:A,NC_000022.11:42520316:G:C,NC_000022.11:42520316:G:T
                                    Gene:
                                    RRP7A (Varview), LOC124900479 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:

                                    18.

                                    rs1489350586 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      22:42514095 (GRCh38)
                                      22:42910101 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:42514094:G:A
                                      Gene:
                                      RRP7A (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000051/1 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1489207698 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        22:42510733 (GRCh38)
                                        22:42906739 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:42510732:G:A
                                        Gene:
                                        RRP7A (Varview), SERHL (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1489180020 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          22:42520040 (GRCh38)
                                          22:42916046 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:42520039:A:T
                                          Gene:
                                          RRP7A (Varview), LOC124900479 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:

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