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Items: 1 to 20 of 1000

1.

rs1491052350 has merged into rs575255819 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    17:7578709 (GRCh38)
    17:7482027 (GRCh37)
    Canonical SPDI:
    NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7578700:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    CD68 (Varview), EIF4A1 (Varview), SENP3-EIF4A1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAA=0./0 (ALFA)
    A=0.325/13 (GENOME_DK)
    HGVS:
    NC_000017.11:g.7578709_7578716del, NC_000017.11:g.7578712_7578716del, NC_000017.11:g.7578713_7578716del, NC_000017.11:g.7578714_7578716del, NC_000017.11:g.7578715_7578716del, NC_000017.11:g.7578716del, NC_000017.11:g.7578716dup, NC_000017.11:g.7578715_7578716dup, NC_000017.11:g.7578714_7578716dup, NC_000017.11:g.7578713_7578716dup, NC_000017.11:g.7578712_7578716dup, NC_000017.11:g.7578707_7578716dup, NC_000017.11:g.7578701_7578716dup, NC_000017.10:g.7482027_7482034del, NC_000017.10:g.7482030_7482034del, NC_000017.10:g.7482031_7482034del, NC_000017.10:g.7482032_7482034del, NC_000017.10:g.7482033_7482034del, NC_000017.10:g.7482034del, NC_000017.10:g.7482034dup, NC_000017.10:g.7482033_7482034dup, NC_000017.10:g.7482032_7482034dup, NC_000017.10:g.7482031_7482034dup, NC_000017.10:g.7482030_7482034dup, NC_000017.10:g.7482025_7482034dup, NC_000017.10:g.7482019_7482034dup, NG_009204.1:g.63_70del, NG_009204.1:g.66_70del, NG_009204.1:g.67_70del, NG_009204.1:g.68_70del, NG_009204.1:g.69_70del, NG_009204.1:g.70del, NG_009204.1:g.70dup, NG_009204.1:g.69_70dup, NG_009204.1:g.68_70dup, NG_009204.1:g.67_70dup, NG_009204.1:g.66_70dup, NG_009204.1:g.61_70dup, NG_009204.1:g.55_70dup, NM_001416.4:c.*223_*230del, NM_001416.4:c.*226_*230del, NM_001416.4:c.*227_*230del, NM_001416.4:c.*228_*230del, NM_001416.4:c.*229_*230del, NM_001416.4:c.*230del, NM_001416.4:c.*230dup, NM_001416.4:c.*229_*230dup, NM_001416.4:c.*228_*230dup, NM_001416.4:c.*227_*230dup, NM_001416.4:c.*226_*230dup, NM_001416.4:c.*221_*230dup, NM_001416.4:c.*215_*230dup, NM_001416.3:c.*223_*230del, NM_001416.3:c.*226_*230del, NM_001416.3:c.*227_*230del, NM_001416.3:c.*228_*230del, NM_001416.3:c.*229_*230del, NM_001416.3:c.*230del, NM_001416.3:c.*230dup, NM_001416.3:c.*229_*230dup, NM_001416.3:c.*228_*230dup, NM_001416.3:c.*227_*230dup, NM_001416.3:c.*226_*230dup, NM_001416.3:c.*221_*230dup, NM_001416.3:c.*215_*230dup, NM_001204510.2:c.*338_*345del, NM_001204510.2:c.*341_*345del, NM_001204510.2:c.*342_*345del, NM_001204510.2:c.*343_*345del, NM_001204510.2:c.*344_*345del, NM_001204510.2:c.*345del, NM_001204510.2:c.*345dup, NM_001204510.2:c.*344_*345dup, NM_001204510.2:c.*343_*345dup, NM_001204510.2:c.*342_*345dup, NM_001204510.2:c.*341_*345dup, NM_001204510.2:c.*336_*345dup, NM_001204510.2:c.*330_*345dup, NM_001204510.1:c.*338_*345del, NM_001204510.1:c.*341_*345del, NM_001204510.1:c.*342_*345del, NM_001204510.1:c.*343_*345del, NM_001204510.1:c.*344_*345del, NM_001204510.1:c.*345del, NM_001204510.1:c.*345dup, NM_001204510.1:c.*344_*345dup, NM_001204510.1:c.*343_*345dup, NM_001204510.1:c.*342_*345dup, NM_001204510.1:c.*341_*345dup, NM_001204510.1:c.*336_*345dup, NM_001204510.1:c.*330_*345dup, NR_037926.1:n.4006_4013del, NR_037926.1:n.4009_4013del, NR_037926.1:n.4010_4013del, NR_037926.1:n.4011_4013del, NR_037926.1:n.4012_4013del, NR_037926.1:n.4013del, NR_037926.1:n.4013dup, NR_037926.1:n.4012_4013dup, NR_037926.1:n.4011_4013dup, NR_037926.1:n.4010_4013dup, NR_037926.1:n.4009_4013dup, NR_037926.1:n.4004_4013dup, NR_037926.1:n.3998_4013dup

    2.

    rs1490942846 has merged into rs932883246 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      G>-,GG [Show Flanks]
      Chromosome:
      17:7572979 (GRCh38)
      17:7476297 (GRCh37)
      Canonical SPDI:
      NC_000017.11:7572978:GGGGGG:GGGGG,NC_000017.11:7572978:GGGGGG:GGGGGGG
      Gene:
      EIF4A1 (Varview), SNORA48 (Varview), SENP3-EIF4A1 (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGGGGGG=0./0 (ALFA)
      -=0.00141/9 (1000Genomes)
      HGVS:

      3.

      rs1490856031 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TATATATATATATATAAAAATATATA>- [Show Flanks]
        Chromosome:
        17:7571894 (GRCh38)
        17:7475212 (GRCh37)
        Canonical SPDI:
        NC_000017.11:7571886:ATATATATATATATATATATATAAAAATATATA:ATATATA
        Gene:
        EIF4A1 (Varview), SENP3 (Varview), SENP3-EIF4A1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ATATATA=0.00008/1 (ALFA)
        -=0.0001/1 (GnomAD)
        -=0.00043/6 (TOMMO)
        HGVS:

        4.

        rs1490365322 has merged into rs58537439 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
          Chromosome:
          17:7571852 (GRCh38)
          17:7475170 (GRCh37)
          Canonical SPDI:
          NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:7571837:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
          Gene:
          EIF4A1 (Varview), SENP3 (Varview), SENP3-EIF4A1 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant,intron_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TATATATATATATA=0./0 (ALFA)
          HGVS:
          NC_000017.11:g.7571838TA[7], NC_000017.11:g.7571838TA[8], NC_000017.11:g.7571838TA[9], NC_000017.11:g.7571838TA[10], NC_000017.11:g.7571838TA[11], NC_000017.11:g.7571838TA[12], NC_000017.11:g.7571838TA[13], NC_000017.11:g.7571838TA[14], NC_000017.11:g.7571838TA[15], NC_000017.11:g.7571838TA[16], NC_000017.11:g.7571838TA[17], NC_000017.11:g.7571838TA[18], NC_000017.11:g.7571838TA[19], NC_000017.11:g.7571838TA[20], NC_000017.11:g.7571838TA[21], NC_000017.11:g.7571838TA[22], NC_000017.11:g.7571838TA[23], NC_000017.11:g.7571838TA[24], NC_000017.11:g.7571838TA[25], NC_000017.11:g.7571838TA[26], NC_000017.11:g.7571838TA[27], NC_000017.11:g.7571838TA[28], NC_000017.11:g.7571838TA[29], NC_000017.11:g.7571838TA[30], NC_000017.11:g.7571838TA[31], NC_000017.11:g.7571838TA[32], NC_000017.11:g.7571838TA[33], NC_000017.11:g.7571838TA[34], NC_000017.11:g.7571838TA[35], NC_000017.11:g.7571838TA[37], NC_000017.11:g.7571838TA[38], NC_000017.11:g.7571838TA[39], NC_000017.11:g.7571838TA[40], NC_000017.10:g.7475156TA[7], NC_000017.10:g.7475156TA[8], NC_000017.10:g.7475156TA[9], NC_000017.10:g.7475156TA[10], NC_000017.10:g.7475156TA[11], NC_000017.10:g.7475156TA[12], NC_000017.10:g.7475156TA[13], NC_000017.10:g.7475156TA[14], NC_000017.10:g.7475156TA[15], NC_000017.10:g.7475156TA[16], NC_000017.10:g.7475156TA[17], NC_000017.10:g.7475156TA[18], NC_000017.10:g.7475156TA[19], NC_000017.10:g.7475156TA[20], NC_000017.10:g.7475156TA[21], NC_000017.10:g.7475156TA[22], NC_000017.10:g.7475156TA[23], NC_000017.10:g.7475156TA[24], NC_000017.10:g.7475156TA[25], NC_000017.10:g.7475156TA[26], NC_000017.10:g.7475156TA[27], NC_000017.10:g.7475156TA[28], NC_000017.10:g.7475156TA[29], NC_000017.10:g.7475156TA[30], NC_000017.10:g.7475156TA[31], NC_000017.10:g.7475156TA[32], NC_000017.10:g.7475156TA[33], NC_000017.10:g.7475156TA[34], NC_000017.10:g.7475156TA[35], NC_000017.10:g.7475156TA[37], NC_000017.10:g.7475156TA[38], NC_000017.10:g.7475156TA[39], NC_000017.10:g.7475156TA[40], NM_015670.6:c.*355TA[7], NM_015670.6:c.*355TA[8], NM_015670.6:c.*355TA[9], NM_015670.6:c.*355TA[10], NM_015670.6:c.*355TA[11], NM_015670.6:c.*355TA[12], NM_015670.6:c.*355TA[13], NM_015670.6:c.*355TA[14], NM_015670.6:c.*355TA[15], NM_015670.6:c.*355TA[16], NM_015670.6:c.*355TA[17], NM_015670.6:c.*355TA[18], NM_015670.6:c.*355TA[19], NM_015670.6:c.*355TA[20], NM_015670.6:c.*355TA[21], NM_015670.6:c.*355TA[22], NM_015670.6:c.*355TA[23], NM_015670.6:c.*355TA[24], NM_015670.6:c.*355TA[25], NM_015670.6:c.*355TA[26], NM_015670.6:c.*355TA[27], NM_015670.6:c.*355TA[28], NM_015670.6:c.*355TA[29], NM_015670.6:c.*355TA[30], NM_015670.6:c.*355TA[31], NM_015670.6:c.*355TA[32], NM_015670.6:c.*355TA[33], NM_015670.6:c.*355TA[34], NM_015670.6:c.*355TA[35], NM_015670.6:c.*355TA[37], NM_015670.6:c.*355TA[38], NM_015670.6:c.*355TA[39], NM_015670.6:c.*355TA[40], NM_015670.5:c.*355TA[7], NM_015670.5:c.*355TA[8], NM_015670.5:c.*355TA[9], NM_015670.5:c.*355TA[10], NM_015670.5:c.*355TA[11], NM_015670.5:c.*355TA[12], NM_015670.5:c.*355TA[13], NM_015670.5:c.*355TA[14], NM_015670.5:c.*355TA[15], NM_015670.5:c.*355TA[16], NM_015670.5:c.*355TA[17], NM_015670.5:c.*355TA[18], NM_015670.5:c.*355TA[19], NM_015670.5:c.*355TA[20], NM_015670.5:c.*355TA[21], NM_015670.5:c.*355TA[22], NM_015670.5:c.*355TA[23], NM_015670.5:c.*355TA[24], NM_015670.5:c.*355TA[25], NM_015670.5:c.*355TA[26], NM_015670.5:c.*355TA[27], NM_015670.5:c.*355TA[28], NM_015670.5:c.*355TA[29], NM_015670.5:c.*355TA[30], NM_015670.5:c.*355TA[31], NM_015670.5:c.*355TA[32], NM_015670.5:c.*355TA[33], NM_015670.5:c.*355TA[34], NM_015670.5:c.*355TA[35], NM_015670.5:c.*355TA[37], NM_015670.5:c.*355TA[38], NM_015670.5:c.*355TA[39], NM_015670.5:c.*355TA[40]

          5.

          rs1490228192 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:7576378 (GRCh38)
            17:7479696 (GRCh37)
            Canonical SPDI:
            NC_000017.11:7576377:C:T
            Gene:
            EIF4A1 (Varview), SNORA67 (Varview), SNORD10 (Varview), SENP3-EIF4A1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1489990902 has merged into rs571416770 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAA>-,A,AA,AAA,AAAAAA [Show Flanks]
              Chromosome:
              17:7571910 (GRCh38)
              17:7475228 (GRCh37)
              Canonical SPDI:
              NC_000017.11:7571908:AAAAA:A,NC_000017.11:7571908:AAAAA:AA,NC_000017.11:7571908:AAAAA:AAA,NC_000017.11:7571908:AAAAA:AAAA,NC_000017.11:7571908:AAAAA:AAAAAAA
              Gene:
              EIF4A1 (Varview), SENP3 (Varview), SENP3-EIF4A1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,3_prime_UTR_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              -=0.00207/2 (Korea1K)
              -=0.00685/2 (NorthernSweden)
              HGVS:

              7.

              rs1489656365 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                17:7576887 (GRCh38)
                17:7480205 (GRCh37)
                Canonical SPDI:
                NC_000017.11:7576886:C:G
                Gene:
                EIF4A1 (Varview), SNORA67 (Varview), SNORD10 (Varview), SENP3-EIF4A1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1489508443 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AT>- [Show Flanks]
                  Chromosome:
                  17:7571309 (GRCh38)
                  17:7474627 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:7571306:ATAT:AT
                  Gene:
                  EIF4A1 (Varview), SENP3 (Varview), SENP3-EIF4A1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ATAT=0./0 (ALFA)
                  -=0.000011/3 (TOPMED)
                  -=0.000014/2 (GnomAD)
                  HGVS:

                  9.

                  rs1489349006 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CTG>- [Show Flanks]
                    Chromosome:
                    17:7579177 (GRCh38)
                    17:7482495 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:7579174:TGCTG:TG
                    Gene:
                    CD68 (Varview), EIF4A1 (Varview), SENP3-EIF4A1 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TG=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1489015522 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      17:7576622 (GRCh38)
                      17:7479940 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:7576621:G:C
                      Gene:
                      EIF4A1 (Varview), SNORA67 (Varview), SNORD10 (Varview), SENP3-EIF4A1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs1488970765 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:7570996 (GRCh38)
                        17:7474314 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:7570995:G:A
                        Gene:
                        EIF4A1 (Varview), SENP3 (Varview), SENP3-EIF4A1 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000021/3 (GnomAD)
                        HGVS:

                        12.

                        rs1488776145 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          17:7575836 (GRCh38)
                          17:7479154 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:7575835:C:T
                          Gene:
                          EIF4A1 (Varview), SNORD10 (Varview), SENP3-EIF4A1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1488571020 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            G>- [Show Flanks]
                            Chromosome:
                            17:7570991 (GRCh38)
                            17:7474309 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:7570990:GGG:GG
                            Gene:
                            EIF4A1 (Varview), SENP3 (Varview), SENP3-EIF4A1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            GG=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1488460944 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              17:7578311 (GRCh38)
                              17:7481629 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:7578310:G:A
                              Gene:
                              CD68 (Varview), EIF4A1 (Varview), SNORA67 (Varview), SENP3-EIF4A1 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1487967772 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C,T [Show Flanks]
                                Chromosome:
                                17:7573044 (GRCh38)
                                17:7476362 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:7573043:G:C,NC_000017.11:7573043:G:T
                                Gene:
                                EIF4A1 (Varview), SNORA48 (Varview), SENP3-EIF4A1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                C=0.00011/2 (TOMMO)
                                C=0.00137/4 (KOREAN)
                                C=0.00166/3 (Korea1K)
                                HGVS:

                                16.

                                rs1487754948 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:7572277 (GRCh38)
                                  17:7475595 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:7572276:C:T
                                  Gene:
                                  EIF4A1 (Varview), SENP3 (Varview), SENP3-EIF4A1 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  T=0.001027/3 (KOREAN)
                                  T=0.009434/2 (Vietnamese)
                                  HGVS:

                                  17.

                                  rs1487306037 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    17:7576983 (GRCh38)
                                    17:7480301 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:7576982:A:G
                                    Gene:
                                    EIF4A1 (Varview), SNORA67 (Varview), SNORD10 (Varview), SENP3-EIF4A1 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1487062781 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      17:7574863 (GRCh38)
                                      17:7478181 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:7574862:G:A,NC_000017.11:7574862:G:T
                                      Gene:
                                      EIF4A1 (Varview), SNORA48 (Varview), SNORD10 (Varview), SENP3-EIF4A1 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000015/4 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1487013693 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:7572495 (GRCh38)
                                        17:7475813 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:7572494:C:T
                                        Gene:
                                        EIF4A1 (Varview), SENP3-EIF4A1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000029/4 (GnomAD)
                                        T=0.000035/1 (TOMMO)
                                        T=0.000042/11 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1486940143 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C,T [Show Flanks]
                                          Chromosome:
                                          17:7579302 (GRCh38)
                                          17:7482620 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:7579301:G:A,NC_000017.11:7579301:G:C,NC_000017.11:7579301:G:T
                                          Gene:
                                          CD68 (Varview), EIF4A1 (Varview), SENP3-EIF4A1 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.00016/1 (1000Genomes)
                                          HGVS:

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