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1.

rs10013 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    17:82057352 (GRCh38)
    17:80015228 (GRCh37)
    Canonical SPDI:
    NC_000017.11:82057351:C:G
    Gene:
    GPS1 (Varview), DUS1L (Varview)
    Functional Consequence:
    3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    G=0.000101/14 (GnomAD_exomes)
    G=0.000322/4 (ExAC)
    HGVS:
    NC_000017.11:g.82057352C>G, NC_000017.10:g.80015228C>G, NM_004127.7:c.*225C>G, NM_004127.6:c.*225C>G, NM_004127.5:c.*225C>G, NM_004127.4:c.*225C>G, XM_005256360.5:c.*225C>G, XM_005256360.4:c.*225C>G, XM_005256360.3:c.*225C>G, XM_005256360.2:c.*225C>G, XM_005256360.1:c.*225C>G, NM_212492.4:c.*225C>G, NM_212492.3:c.*225C>G, NM_212492.2:c.*225C>G, NM_212492.1:c.*225C>G, NM_001321089.3:c.*225C>G, NM_001321089.2:c.*225C>G, NM_001321089.1:c.*225C>G, NM_001321090.3:c.*225C>G, NM_001321090.2:c.*225C>G, NM_001321090.1:c.*225C>G, NM_001321091.3:c.*225C>G, NM_001321091.2:c.*225C>G, NM_001321091.1:c.*225C>G, XM_017024524.3:c.*225C>G, XM_017024524.2:c.*225C>G, XM_017024524.1:c.*225C>G, XM_017024531.3:c.*225C>G, XM_017024531.2:c.*225C>G, XM_017024531.1:c.*225C>G, XM_005256359.3:c.*225C>G, XM_005256359.2:c.*225C>G, XM_005256359.1:c.*225C>G, NM_001321093.3:c.*225C>G, NM_001321093.2:c.*225C>G, NM_001321093.1:c.*225C>G, XM_017024527.3:c.*225C>G, XM_017024527.2:c.*225C>G, XM_017024527.1:c.*225C>G, NM_001330541.3:c.*225C>G, NM_001330541.2:c.*225C>G, NM_001330541.1:c.*225C>G, NM_001321092.3:c.*225C>G, NM_001321092.2:c.*225C>G, NM_001321092.1:c.*225C>G, NM_001330539.3:c.*225C>G, NM_001330539.2:c.*225C>G, NM_001330539.1:c.*225C>G, XM_005256350.2:c.*225C>G, XM_005256350.1:c.*225C>G, XM_005256353.2:c.*225C>G, XM_005256353.1:c.*225C>G, XM_017024525.2:c.*225C>G, XM_017024525.1:c.*225C>G, XM_047435833.1:c.*225C>G, XM_047435831.1:c.*225C>G, XM_047435841.1:c.*225C>G, XM_047435835.1:c.*225C>G, XM_047435845.1:c.*225C>G, XM_047435838.1:c.*225C>G, NM_001394759.1:c.*225C>G, XM_047435840.1:c.*225C>G, NM_001394760.1:c.*225C>G, XM_047435842.1:c.*225C>G, XM_047435843.1:c.*225C>G, XM_047435847.1:c.*225C>G, NM_001394761.1:c.*225C>G, XM_047435849.1:c.*225C>G, XM_047435829.1:c.*225C>G, XM_047435853.1:c.*225C>G, XM_047435830.1:c.*225C>G, XM_047435832.1:c.*225C>G, NM_001394763.1:c.*225C>G, NM_001394765.1:c.*225C>G, NM_001394767.1:c.*225C>G, NM_001394768.1:c.*225C>G, NM_001394769.1:c.*225C>G, XM_047435836.1:c.*225C>G, XM_047435848.1:c.*225C>G, XM_047435837.1:c.*225C>G, XM_047435850.1:c.*225C>G, NM_001394773.1:c.*225C>G, XM_047435851.1:c.*225C>G, NM_001394770.1:c.*225C>G, XM_047435839.1:c.*225C>G, XM_047435854.1:c.*225C>G, NM_001394776.1:c.*225C>G, NM_001394762.1:c.*225C>G, NM_001394764.1:c.*225C>G, XM_047435846.1:c.*225C>G, NM_001394766.1:c.*225C>G, XM_047435855.1:c.*225C>G, NM_001394771.1:c.*225C>G, NM_001394772.1:c.*225C>G, NM_001394774.1:c.*225C>G, NM_001394775.1:c.*225C>G, NM_001394777.1:c.*225C>G

    2.

    rs12080 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:82057925 (GRCh38)
      17:80015801 (GRCh37)
      Canonical SPDI:
      NC_000017.11:82057924:G:A
      Gene:
      GPS1 (Varview), DUS1L (Varview)
      Functional Consequence:
      downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,500B_downstream_variant
      Validated:
      by cluster
      HGVS:
      NC_000017.11:g.82057925G>A, NC_000017.10:g.80015801G>A, NM_004127.6:c.*798G>A, NM_022156.5:c.*190C>T, NM_022156.4:c.*190C>T, NM_212492.3:c.*798G>A, XM_005256393.3:c.*311C>T, XM_005256393.2:c.*311C>T, XM_005256393.1:c.*311C>T, XM_006722288.3:c.*311C>T, XM_006722288.2:c.*311C>T, XM_006722288.1:c.*311C>T, XM_005256394.3:c.*311C>T, XM_005256394.2:c.*311C>T, XM_005256394.1:c.*311C>T, XM_006722289.3:c.*190C>T, XM_006722289.2:c.*190C>T, XM_006722289.1:c.*190C>T, XM_024450868.2:c.*311C>T, XM_024450868.1:c.*311C>T, NM_001321089.2:c.*798G>A, NM_001321090.2:c.*798G>A, NM_001321091.2:c.*798G>A, XM_024450869.2:c.*311C>T, XM_024450869.1:c.*311C>T, NM_001321093.2:c.*798G>A, NM_001330541.2:c.*798G>A, NM_001321092.2:c.*798G>A, NM_001330539.2:c.*798G>A, XM_024450870.2:c.*190C>T, XM_024450870.1:c.*190C>T, XM_024450871.2:c.*311C>T, XM_024450871.1:c.*311C>T, XM_047436519.1:c.*311C>T, NM_001330541.1:c.*798G>A, NM_001330539.1:c.*798G>A

      3.

      rs12841 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        17:82057209 (GRCh38)
        17:80015085 (GRCh37)
        Canonical SPDI:
        NC_000017.11:82057208:C:G
        Gene:
        GPS1 (Varview), DUS1L (Varview)
        Functional Consequence:
        3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
        Validated:
        by cluster
        HGVS:
        NC_000017.11:g.82057209C>G, NC_000017.10:g.80015085C>G, NM_004127.7:c.*82C>G, NM_004127.6:c.*82C>G, NM_004127.5:c.*82C>G, NM_004127.4:c.*82C>G, XM_005256360.5:c.*82C>G, XM_005256360.4:c.*82C>G, XM_005256360.3:c.*82C>G, XM_005256360.2:c.*82C>G, XM_005256360.1:c.*82C>G, NM_212492.4:c.*82C>G, NM_212492.3:c.*82C>G, NM_212492.2:c.*82C>G, NM_212492.1:c.*82C>G, NM_001321089.3:c.*82C>G, NM_001321089.2:c.*82C>G, NM_001321089.1:c.*82C>G, NM_001321090.3:c.*82C>G, NM_001321090.2:c.*82C>G, NM_001321090.1:c.*82C>G, NM_001321091.3:c.*82C>G, NM_001321091.2:c.*82C>G, NM_001321091.1:c.*82C>G, XM_017024524.3:c.*82C>G, XM_017024524.2:c.*82C>G, XM_017024524.1:c.*82C>G, XM_017024531.3:c.*82C>G, XM_017024531.2:c.*82C>G, XM_017024531.1:c.*82C>G, XM_005256359.3:c.*82C>G, XM_005256359.2:c.*82C>G, XM_005256359.1:c.*82C>G, NM_001321093.3:c.*82C>G, NM_001321093.2:c.*82C>G, NM_001321093.1:c.*82C>G, XM_017024527.3:c.*82C>G, XM_017024527.2:c.*82C>G, XM_017024527.1:c.*82C>G, NM_001330541.3:c.*82C>G, NM_001330541.2:c.*82C>G, NM_001330541.1:c.*82C>G, NM_001321092.3:c.*82C>G, NM_001321092.2:c.*82C>G, NM_001321092.1:c.*82C>G, NM_001330539.3:c.*82C>G, NM_001330539.2:c.*82C>G, NM_001330539.1:c.*82C>G, XM_005256350.2:c.*82C>G, XM_005256350.1:c.*82C>G, XM_005256353.2:c.*82C>G, XM_005256353.1:c.*82C>G, XM_017024525.2:c.*82C>G, XM_017024525.1:c.*82C>G, XM_047435833.1:c.*82C>G, XM_047435831.1:c.*82C>G, XM_047435841.1:c.*82C>G, XM_047435835.1:c.*82C>G, XM_047435845.1:c.*82C>G, XM_047435838.1:c.*82C>G, NM_001394759.1:c.*82C>G, XM_047435840.1:c.*82C>G, NM_001394760.1:c.*82C>G, XM_047435842.1:c.*82C>G, XM_047435843.1:c.*82C>G, XM_047435847.1:c.*82C>G, NM_001394761.1:c.*82C>G, XM_047435849.1:c.*82C>G, XM_047435829.1:c.*82C>G, XM_047435853.1:c.*82C>G, XM_047435830.1:c.*82C>G, XM_047435832.1:c.*82C>G, NM_001394763.1:c.*82C>G, NM_001394765.1:c.*82C>G, NM_001394767.1:c.*82C>G, NM_001394768.1:c.*82C>G, NM_001394769.1:c.*82C>G, XM_047435836.1:c.*82C>G, XM_047435848.1:c.*82C>G, XM_047435837.1:c.*82C>G, XM_047435850.1:c.*82C>G, NM_001394773.1:c.*82C>G, XM_047435851.1:c.*82C>G, NM_001394770.1:c.*82C>G, XM_047435839.1:c.*82C>G, XM_047435854.1:c.*82C>G, NM_001394776.1:c.*82C>G, NM_001394762.1:c.*82C>G, NM_001394764.1:c.*82C>G, XM_047435846.1:c.*82C>G, NM_001394766.1:c.*82C>G, XM_047435855.1:c.*82C>G, NM_001394771.1:c.*82C>G, NM_001394772.1:c.*82C>G, NM_001394774.1:c.*82C>G, NM_001394775.1:c.*82C>G, NM_001394777.1:c.*82C>G

        4.

        rs4280314 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G,T [Show Flanks]
          Chromosome:
          17:82058576 (GRCh38)
          17:80016452 (GRCh37)
          Canonical SPDI:
          NC_000017.11:82058575:C:A,NC_000017.11:82058575:C:G,NC_000017.11:82058575:C:T
          Gene:
          DUS1L (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.071176/3980 (ALFA)
          C=0.000071/1 (TOMMO)
          C=0.000547/1 (Korea1K)
          C=0.003757/11 (KOREAN)
          C=0.02381/2 (PRJEB36033)
          C=0.026045/2032 (PAGE_STUDY)
          C=0.032491/18 (SGDP_PRJ)
          C=0.038333/23 (NorthernSweden)
          C=0.039038/196 (1000Genomes)
          C=0.041518/186 (Estonian)
          C=0.046545/97 (HGDP_Stanford)
          C=0.047104/12468 (TOPMED)
          C=0.049974/4782 (GnomAD_exomes)
          C=0.055556/3 (Siberian)
          C=0.059917/58 (HapMap)
          C=0.07369/284 (ALSPAC)
          C=0.074164/275 (TWINSUK)
          C=0.078156/78 (GoNL)
          C=0.111111/24 (Qatari)
          C=0.125/5 (GENOME_DK)
          HGVS:
          NC_000017.11:g.82058576C>A, NC_000017.11:g.82058576C>G, NC_000017.11:g.82058576C>T, NC_000017.10:g.80016452C>A, NC_000017.10:g.80016452C>G, NC_000017.10:g.80016452C>T, XM_005256393.3:c.1411G>T, XM_005256393.3:c.1411G>C, XM_005256393.3:c.1411G>A, XM_005256393.2:c.1411G>T, XM_005256393.2:c.1411G>C, XM_005256393.2:c.1411G>A, XM_005256393.1:c.1411G>T, XM_005256393.1:c.1411G>C, XM_005256393.1:c.1411G>A, XM_006722288.3:c.1360G>T, XM_006722288.3:c.1360G>C, XM_006722288.3:c.1360G>A, XM_006722288.2:c.1360G>T, XM_006722288.2:c.1360G>C, XM_006722288.2:c.1360G>A, XM_006722288.1:c.1360G>T, XM_006722288.1:c.1360G>C, XM_006722288.1:c.1360G>A, XM_024450868.2:c.1465G>T, XM_024450868.2:c.1465G>C, XM_024450868.2:c.1465G>A, XM_024450868.1:c.1465G>T, XM_024450868.1:c.1465G>C, XM_024450868.1:c.1465G>A, XM_024450869.2:c.1414G>T, XM_024450869.2:c.1414G>C, XM_024450869.2:c.1414G>A, XM_024450869.1:c.1414G>T, XM_024450869.1:c.1414G>C, XM_024450869.1:c.1414G>A, XM_047436519.1:c.1465G>T, XM_047436519.1:c.1465G>C, XM_047436519.1:c.1465G>A, XP_005256450.1:p.Gly471Trp, XP_005256450.1:p.Gly471Arg, XP_005256450.1:p.Gly471Arg, XP_006722351.1:p.Gly454Trp, XP_006722351.1:p.Gly454Arg, XP_006722351.1:p.Gly454Arg, XP_024306636.1:p.Gly489Trp, XP_024306636.1:p.Gly489Arg, XP_024306636.1:p.Gly489Arg, XP_024306637.1:p.Gly472Trp, XP_024306637.1:p.Gly472Arg, XP_024306637.1:p.Gly472Arg, XP_047292475.1:p.Gly489Trp, XP_047292475.1:p.Gly489Arg, XP_047292475.1:p.Gly489Arg

          5.

          rs4531805 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:82063098 (GRCh38)
            17:80020974 (GRCh37)
            Canonical SPDI:
            NC_000017.11:82063097:C:T
            Gene:
            DUS1L (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.175278/3311 (ALFA)
            T=0.00463/1 (Vietnamese)
            T=0.055556/12 (Qatari)
            T=0.065116/326 (1000Genomes)
            T=0.126295/33429 (TOPMED)
            T=0.147702/20707 (GnomAD)
            T=0.208333/125 (NorthernSweden)
            T=0.210895/782 (TWINSUK)
            T=0.214429/214 (GoNL)
            T=0.215101/829 (ALSPAC)
            T=0.237946/1066 (Estonian)
            T=0.35/14 (GENOME_DK)
            C=0.428571/18 (SGDP_PRJ)
            C=0.5/2 (Siberian)
            HGVS:

            6.

            rs4606789 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              17:82066115 (GRCh38)
              17:80023991 (GRCh37)
              Canonical SPDI:
              NC_000017.11:82066114:C:A
              Gene:
              DUS1L (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.367472/8604 (ALFA)
              A=0.254808/53 (Vietnamese)
              A=0.274632/4602 (TOMMO)
              C=0.304688/1365 (Estonian)
              C=0.31686/109 (SGDP_PRJ)
              A=0.320961/588 (Korea1K)
              A=0.328776/962 (KOREAN)
              C=0.36017/50426 (GnomAD)
              C=0.363636/16 (Siberian)
              C=0.371667/223 (NorthernSweden)
              C=0.384574/1426 (TWINSUK)
              C=0.385644/102076 (TOPMED)
              C=0.386092/1488 (ALSPAC)
              C=0.45/18 (GENOME_DK)
              A=0.453704/98 (Qatari)
              C=0.466896/2338 (1000Genomes)
              HGVS:

              7.

              rs8064328 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                17:82057879 (GRCh38)
                17:80015755 (GRCh37)
                Canonical SPDI:
                NC_000017.11:82057878:G:A,NC_000017.11:82057878:G:C,NC_000017.11:82057878:G:T
                Gene:
                GPS1 (Varview), DUS1L (Varview)
                Functional Consequence:
                downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.00072/6 (GnomAD_exomes)
                A=0.00281/14 (1000Genomes)
                A=0.00962/1 (ExAC)
                HGVS:
                NC_000017.11:g.82057879G>A, NC_000017.11:g.82057879G>C, NC_000017.11:g.82057879G>T, NC_000017.10:g.80015755G>A, NC_000017.10:g.80015755G>C, NC_000017.10:g.80015755G>T, NM_004127.6:c.*752G>A, NM_004127.6:c.*752G>C, NM_004127.6:c.*752G>T, NM_022156.5:c.*236C>T, NM_022156.5:c.*236C>G, NM_022156.5:c.*236C>A, NM_022156.4:c.*236C>T, NM_022156.4:c.*236C>G, NM_022156.4:c.*236C>A, NM_212492.3:c.*752G>A, NM_212492.3:c.*752G>C, NM_212492.3:c.*752G>T, XM_005256393.3:c.*357C>T, XM_005256393.3:c.*357C>G, XM_005256393.3:c.*357C>A, XM_005256393.2:c.*357C>T, XM_005256393.2:c.*357C>G, XM_005256393.2:c.*357C>A, XM_006722288.3:c.*357C>T, XM_006722288.3:c.*357C>G, XM_006722288.3:c.*357C>A, XM_006722288.2:c.*357C>T, XM_006722288.2:c.*357C>G, XM_006722288.2:c.*357C>A, XM_005256394.3:c.*357C>T, XM_005256394.3:c.*357C>G, XM_005256394.3:c.*357C>A, XM_005256394.2:c.*357C>T, XM_005256394.2:c.*357C>G, XM_005256394.2:c.*357C>A, XM_006722289.3:c.*236C>T, XM_006722289.3:c.*236C>G, XM_006722289.3:c.*236C>A, XM_006722289.2:c.*236C>T, XM_006722289.2:c.*236C>G, XM_006722289.2:c.*236C>A, XM_024450868.2:c.*357C>T, XM_024450868.2:c.*357C>G, XM_024450868.2:c.*357C>A, XM_024450868.1:c.*357C>T, XM_024450868.1:c.*357C>G, XM_024450868.1:c.*357C>A, NM_001321089.2:c.*752G>A, NM_001321089.2:c.*752G>C, NM_001321089.2:c.*752G>T, NM_001321090.2:c.*752G>A, NM_001321090.2:c.*752G>C, NM_001321090.2:c.*752G>T, NM_001321091.2:c.*752G>A, NM_001321091.2:c.*752G>C, NM_001321091.2:c.*752G>T, XM_024450869.2:c.*357C>T, XM_024450869.2:c.*357C>G, XM_024450869.2:c.*357C>A, XM_024450869.1:c.*357C>T, XM_024450869.1:c.*357C>G, XM_024450869.1:c.*357C>A, NM_001321093.2:c.*752G>A, NM_001321093.2:c.*752G>C, NM_001321093.2:c.*752G>T, NM_001330541.2:c.*752G>A, NM_001330541.2:c.*752G>C, NM_001330541.2:c.*752G>T, NM_001321092.2:c.*752G>A, NM_001321092.2:c.*752G>C, NM_001321092.2:c.*752G>T, NM_001330539.2:c.*752G>A, NM_001330539.2:c.*752G>C, NM_001330539.2:c.*752G>T, XM_024450870.2:c.*236C>T, XM_024450870.2:c.*236C>G, XM_024450870.2:c.*236C>A, XM_024450871.2:c.*357C>T, XM_024450871.2:c.*357C>G, XM_024450871.2:c.*357C>A, XM_024450871.1:c.*357C>T, XM_024450871.1:c.*357C>G, XM_024450871.1:c.*357C>A, XM_047436519.1:c.*357C>T, XM_047436519.1:c.*357C>G, XM_047436519.1:c.*357C>A, NM_001330541.1:c.*752G>A, NM_001330541.1:c.*752G>C, NM_001330541.1:c.*752G>T, NM_001330539.1:c.*752G>A, NM_001330539.1:c.*752G>C, NM_001330539.1:c.*752G>T

                8.

                rs8068632 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  17:82064391 (GRCh38)
                  17:80022267 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:82064390:C:G,NC_000017.11:82064390:C:T
                  Gene:
                  DUS1L (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.397512/7509 (ALFA)
                  T=0.001873/1 (MGP)
                  T=0.232977/3904 (TOMMO)
                  T=0.233333/49 (Vietnamese)
                  T=0.237445/435 (Korea1K)
                  T=0.248123/727 (KOREAN)
                  C=0.331696/1486 (Estonian)
                  C=0.346154/18 (PRJEB36033)
                  C=0.356707/117 (SGDP_PRJ)
                  C=0.386364/17 (Siberian)
                  C=0.388333/233 (NorthernSweden)
                  C=0.390782/390 (GoNL)
                  C=0.398287/1535 (ALSPAC)
                  C=0.398328/1477 (TWINSUK)
                  C=0.41572/58205 (GnomAD)
                  C=0.440005/116465 (TOPMED)
                  T=0.449074/97 (Qatari)
                  C=0.45/18 (GENOME_DK)
                  T=0.472517/2366 (1000Genomes)
                  HGVS:

                  9.

                  rs8068796 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:82064485 (GRCh38)
                    17:80022361 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:82064484:C:T
                    Gene:
                    DUS1L (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.414498/90838 (ALFA)
                    T=0.213924/169 (PRJEB37584)
                    T=0.233208/3909 (TOMMO)
                    T=0.237991/436 (Korea1K)
                    T=0.238318/51 (Vietnamese)
                    T=0.248123/727 (KOREAN)
                    C=0.33192/1487 (Estonian)
                    C=0.356287/119 (SGDP_PRJ)
                    C=0.386364/17 (Siberian)
                    C=0.388333/233 (NorthernSweden)
                    C=0.391784/391 (GoNL)
                    C=0.398328/1477 (TWINSUK)
                    C=0.398806/1537 (ALSPAC)
                    C=0.404762/34 (PRJEB36033)
                    C=0.409205/57328 (GnomAD)
                    C=0.420249/86183 (GENOGRAPHIC)
                    T=0.428503/893 (HGDP_Stanford)
                    C=0.432967/114602 (TOPMED)
                    T=0.449074/97 (Qatari)
                    C=0.45/18 (GENOME_DK)
                    T=0.472516/894 (HapMap)
                    T=0.479232/2400 (1000Genomes)
                    C=0.491193/38538 (PAGE_STUDY)
                    HGVS:

                    10.

                    rs9902056 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G,T [Show Flanks]
                      Chromosome:
                      17:82067171 (GRCh38)
                      17:80025047 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:82067170:A:C,NC_000017.11:82067170:A:G,NC_000017.11:82067170:A:T
                      Gene:
                      DUS1L (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      G=0.023585/5 (Vietnamese)
                      G=0.025/1 (GENOME_DK)
                      G=0.03/18 (NorthernSweden)
                      G=0.043973/197 (Estonian)
                      G=0.045926/177 (ALSPAC)
                      G=0.047597/798 (TOMMO)
                      G=0.05151/191 (TWINSUK)
                      G=0.06012/60 (GoNL)
                      G=0.068942/202 (KOREAN)
                      G=0.12037/26 (Qatari)
                      G=0.158472/22161 (GnomAD)
                      G=0.164623/43574 (TOPMED)
                      G=0.182854/916 (1000Genomes)
                      A=0.428571/48 (SGDP_PRJ)
                      A=0.5/3 (Siberian)
                      HGVS:

                      11.

                      rs9902502 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G,T [Show Flanks]
                        Chromosome:
                        17:82067376 (GRCh38)
                        17:80025252 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:82067375:A:C,NC_000017.11:82067375:A:G,NC_000017.11:82067375:A:T
                        Gene:
                        DUS1L (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.290206/5482 (ALFA)
                        G=0.261905/55 (Vietnamese)
                        A=0.272991/1223 (Estonian)
                        A=0.280255/39257 (GnomAD)
                        A=0.283505/110 (SGDP_PRJ)
                        A=0.299505/79276 (TOPMED)
                        A=0.307615/307 (GoNL)
                        A=0.316882/1175 (TWINSUK)
                        A=0.318182/14 (Siberian)
                        A=0.320187/1234 (ALSPAC)
                        G=0.321714/5392 (TOMMO)
                        A=0.335/201 (NorthernSweden)
                        G=0.343886/630 (Korea1K)
                        G=0.354608/1039 (KOREAN)
                        A=0.379294/1900 (1000Genomes)
                        A=0.4/16 (GENOME_DK)
                        A=0.486111/105 (Qatari)
                        HGVS:

                        12.

                        rs9903578 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G [Show Flanks]
                          Chromosome:
                          17:82060591 (GRCh38)
                          17:80018467 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:82060590:A:C,NC_000017.11:82060590:A:G
                          Gene:
                          DUS1L (Varview)
                          Functional Consequence:
                          intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.00275/43 (ALFA)
                          C=0.00926/2 (Qatari)
                          C=0.01265/63 (1000Genomes)
                          C=0.02792/22 (HapMap)
                          A=0.4375/7 (SGDP_PRJ)
                          HGVS:

                          13.

                          rs11371164 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->G,GG [Show Flanks]
                            Chromosome:
                            17:82059270 (GRCh38)
                            17:80017147 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:82059270:GGGGGG:GGGGGGG,NC_000017.11:82059270:GGGGGG:GGGGGGGG
                            Gene:
                            DUS1L (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GGGGGGG=0.417379/4102 (ALFA)
                            G=0.210929/386 (Korea1K)
                            G=0.225848/3785 (TOMMO)
                            G=0.348043/1743 (1000Genomes)
                            -=0.36193/1620 (Estonian)
                            -=0.403333/242 (NorthernSweden)
                            -=0.404255/1558 (ALSPAC)
                            -=0.40481/404 (GoNL)
                            -=0.411543/1526 (TWINSUK)
                            G=0.456443/120816 (TOPMED)
                            HGVS:

                            14.

                            rs11542331 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              17:82061331 (GRCh38)
                              17:80019207 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:82061330:G:A,NC_000017.11:82061330:G:C
                              Gene:
                              DUS1L (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.044752/1846 (ALFA)
                              C=0.008432/5 (Vietnamese)
                              C=0.013699/40 (KOREAN)
                              C=0.014192/26 (Korea1K)
                              C=0.023392/392 (TOMMO)
                              C=0.02381/7 (FINRISK)
                              C=0.026562/119 (Estonian)
                              C=0.035/21 (NorthernSweden)
                              C=0.05/2 (GENOME_DK)
                              C=0.055556/12 (Qatari)
                              C=0.060956/14246 (GnomAD_exomes)
                              C=0.061133/794 (GoESP)
                              C=0.061441/8618 (GnomAD)
                              C=0.061446/6762 (ExAC)
                              C=0.062532/241 (ALSPAC)
                              C=0.062773/314 (1000Genomes)
                              C=0.064725/240 (TWINSUK)
                              C=0.066848/17694 (TOPMED)
                              C=0.072144/72 (GoNL)
                              G=0.458333/33 (SGDP_PRJ)
                              G=0.5/1 (Siberian)
                              HGVS:
                              NC_000017.11:g.82061331G>A, NC_000017.11:g.82061331G>C, NC_000017.10:g.80019207G>A, NC_000017.10:g.80019207G>C, NM_022156.5:c.720C>T, NM_022156.5:c.720C>G, NM_022156.4:c.720C>T, NM_022156.4:c.720C>G, XM_005256393.3:c.720C>T, XM_005256393.3:c.720C>G, XM_005256393.2:c.720C>T, XM_005256393.2:c.720C>G, XM_005256393.1:c.720C>T, XM_005256393.1:c.720C>G, XM_006722288.3:c.669C>T, XM_006722288.3:c.669C>G, XM_006722288.2:c.669C>T, XM_006722288.2:c.669C>G, XM_006722288.1:c.669C>T, XM_006722288.1:c.669C>G, XM_005256394.3:c.720C>T, XM_005256394.3:c.720C>G, XM_005256394.2:c.720C>T, XM_005256394.2:c.720C>G, XM_005256394.1:c.720C>T, XM_005256394.1:c.720C>G, XM_006722289.3:c.669C>T, XM_006722289.3:c.669C>G, XM_006722289.2:c.669C>T, XM_006722289.2:c.669C>G, XM_006722289.1:c.669C>T, XM_006722289.1:c.669C>G, XM_024450868.2:c.781C>T, XM_024450868.2:c.781C>G, XM_024450868.1:c.781C>T, XM_024450868.1:c.781C>G, XM_024450869.2:c.730C>T, XM_024450869.2:c.730C>G, XM_024450869.1:c.730C>T, XM_024450869.1:c.730C>G, XM_024450870.2:c.781C>T, XM_024450870.2:c.781C>G, XM_024450870.1:c.781C>T, XM_024450870.1:c.781C>G, XM_024450871.2:c.781C>T, XM_024450871.2:c.781C>G, XM_024450871.1:c.781C>T, XM_024450871.1:c.781C>G, XR_002958052.2:n.922C>T, XR_002958052.2:n.922C>G, XR_002958052.1:n.933C>T, XR_002958052.1:n.933C>G, XM_047436519.1:c.781C>T, XM_047436519.1:c.781C>G, XM_047436520.1:c.781C>T, XM_047436520.1:c.781C>G, XM_047436521.1:c.781C>T, XM_047436521.1:c.781C>G, XP_024306636.1:p.Pro261Ser, XP_024306636.1:p.Pro261Ala, XP_024306637.1:p.Pro244Ser, XP_024306637.1:p.Pro244Ala, XP_024306638.1:p.Pro261Ser, XP_024306638.1:p.Pro261Ala, XP_024306639.1:p.Pro261Ser, XP_024306639.1:p.Pro261Ala, XP_047292475.1:p.Pro261Ser, XP_047292475.1:p.Pro261Ala, XP_047292476.1:p.Pro261Ser, XP_047292476.1:p.Pro261Ala, XP_047292477.1:p.Pro261Ser, XP_047292477.1:p.Pro261Ala

                              15.

                              rs11542332 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                17:82062936 (GRCh38)
                                17:80020812 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:82062935:C:T
                                Gene:
                                DUS1L (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.06898/4519 (ALFA)
                                T=0.024351/15 (Vietnamese)
                                T=0.025/1 (GENOME_DK)
                                T=0.03/18 (NorthernSweden)
                                T=0.04442/199 (Estonian)
                                T=0.045442/762 (TOMMO)
                                T=0.045926/177 (ALSPAC)
                                T=0.05205/193 (TWINSUK)
                                T=0.054585/100 (Korea1K)
                                T=0.061122/61 (GoNL)
                                T=0.062799/184 (KOREAN)
                                T=0.064815/14 (Qatari)
                                T=0.075658/23 (FINRISK)
                                T=0.081147/20322 (GnomAD_exomes)
                                T=0.083208/9977 (ExAC)
                                T=0.088015/47 (MGP)
                                T=0.105198/1368 (GoESP)
                                T=0.110896/15549 (GnomAD)
                                T=0.115271/30511 (TOPMED)
                                T=0.128826/645 (1000Genomes)
                                T=0.148279/11663 (PAGE_STUDY)
                                C=0.457447/43 (SGDP_PRJ)
                                C=0.5/3 (Siberian)
                                HGVS:

                                16.

                                rs11656944 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:82065499 (GRCh38)
                                  17:80023375 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:82065498:C:T
                                  Gene:
                                  DUS1L (Varview)
                                  Functional Consequence:
                                  intron_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.015881/300 (ALFA)
                                  T=0.013492/52 (ALSPAC)
                                  T=0.013926/3686 (TOPMED)
                                  T=0.015912/59 (TWINSUK)
                                  T=0.016396/82 (1000Genomes)
                                  T=0.017595/2464 (GnomAD)
                                  T=0.023364/5 (Vietnamese)
                                  T=0.027679/124 (Estonian)
                                  T=0.033333/20 (NorthernSweden)
                                  T=0.065385/1095 (TOMMO)
                                  T=0.08764/156 (Korea1K)
                                  T=0.087953/257 (KOREAN)
                                  C=0.5/1 (Siberian)
                                  C=0.5/8 (SGDP_PRJ)
                                  HGVS:

                                  17.

                                  rs28366697 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:82066094 (GRCh38)
                                    17:80023970 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:82066093:G:A
                                    Gene:
                                    DUS1L (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.062043/1172 (ALFA)
                                    A=0.023585/5 (Vietnamese)
                                    A=0.025/1 (GENOME_DK)
                                    A=0.03/18 (NorthernSweden)
                                    A=0.044196/198 (Estonian)
                                    A=0.045407/175 (ALSPAC)
                                    A=0.046296/10 (Qatari)
                                    A=0.047597/798 (TOMMO)
                                    A=0.05178/192 (TWINSUK)
                                    A=0.068446/200 (KOREAN)
                                    A=0.076041/10662 (GnomAD)
                                    A=0.079349/21003 (TOPMED)
                                    A=0.097283/487 (1000Genomes)
                                    G=0.47619/40 (SGDP_PRJ)
                                    G=0.5/3 (Siberian)
                                    HGVS:

                                    18.

                                    rs28374526 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      17:82065174 (GRCh38)
                                      17:80023050 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:82065173:T:C,NC_000017.11:82065173:T:G
                                      Gene:
                                      DUS1L (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.057713/1388 (ALFA)
                                      C=0.023364/5 (Vietnamese)
                                      C=0.025/1 (GENOME_DK)
                                      C=0.03/18 (NorthernSweden)
                                      C=0.04442/199 (Estonian)
                                      C=0.045926/177 (ALSPAC)
                                      C=0.046296/10 (Qatari)
                                      C=0.047491/796 (TOMMO)
                                      C=0.05205/193 (TWINSUK)
                                      C=0.067669/198 (KOREAN)
                                      C=0.06843/9595 (GnomAD)
                                      C=0.071809/19007 (TOPMED)
                                      C=0.078224/148 (HapMap)
                                      C=0.089631/449 (1000Genomes)
                                      T=0.471429/33 (SGDP_PRJ)
                                      T=0.5/3 (Siberian)
                                      HGVS:

                                      19.

                                      rs28631946 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        17:82065399 (GRCh38)
                                        17:80023275 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:82065398:G:T
                                        Gene:
                                        DUS1L (Varview)
                                        Functional Consequence:
                                        intron_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.088405/2571 (ALFA)
                                        T=0.018868/4 (Vietnamese)
                                        T=0.025/1 (GENOME_DK)
                                        T=0.03/18 (NorthernSweden)
                                        T=0.04442/199 (Estonian)
                                        T=0.048521/187 (ALSPAC)
                                        T=0.053128/197 (TWINSUK)
                                        T=0.058116/974 (TOMMO)
                                        T=0.066777/121 (Korea1K)
                                        T=0.069444/15 (Qatari)
                                        T=0.075871/222 (KOREAN)
                                        T=0.122483/17169 (GnomAD)
                                        T=0.128955/34133 (TOPMED)
                                        T=0.151624/759 (1000Genomes)
                                        G=0.445312/57 (SGDP_PRJ)
                                        G=0.5/3 (Siberian)
                                        HGVS:

                                        20.

                                        rs34249409 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->G [Show Flanks]
                                          Chromosome:
                                          17:82064780 (GRCh38)
                                          17:80022657 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:82064780:GGG:GGGG
                                          Gene:
                                          DUS1L (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          GGG=0.327707/8911 (ALFA)
                                          -=0.277574/3473 (GoESP)
                                          -=0.280009/1227 (Estonian)
                                          -=0.294021/41220 (GnomAD)
                                          -=0.308617/308 (GoNL)
                                          -=0.314432/83227 (TOPMED)
                                          -=0.318231/1180 (TWINSUK)
                                          -=0.320965/1237 (ALSPAC)
                                          G=0.32405/5431 (TOMMO)
                                          -=0.331667/199 (NorthernSweden)
                                          G=0.33698/616 (Korea1K)
                                          -=0.362718/40097 (ExAC)
                                          -=0.372269/79982 (GnomAD_exomes)
                                          HGVS:

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