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Items: 1 to 20 of 1000

1.

rs1491563426 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GT>- [Show Flanks]
    Chromosome:
    19:35273594 (GRCh38)
    19:35764497 (GRCh37)
    Canonical SPDI:
    NC_000019.10:35273592:TGT:T
    Gene:
    USF2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491511061 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      19:35267018 (GRCh38)
      19:35757921 (GRCh37)
      Canonical SPDI:
      NC_000019.10:35267017:AT:
      Gene:
      USF2 (Varview), LSR (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000005/1 (GnomAD_exomes)
      -=0.000009/1 (ExAC)
      HGVS:
      3.

      rs1491373109 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->C
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1491107914 has merged into rs752967792 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          19:35276078 (GRCh38)
          19:35766981 (GRCh37)
          Canonical SPDI:
          NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35276069:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          USF2 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000019.10:g.35276078_35276089del, NC_000019.10:g.35276079_35276089del, NC_000019.10:g.35276080_35276089del, NC_000019.10:g.35276081_35276089del, NC_000019.10:g.35276082_35276089del, NC_000019.10:g.35276083_35276089del, NC_000019.10:g.35276084_35276089del, NC_000019.10:g.35276085_35276089del, NC_000019.10:g.35276087_35276089del, NC_000019.10:g.35276088_35276089del, NC_000019.10:g.35276089del, NC_000019.10:g.35276089dup, NC_000019.10:g.35276088_35276089dup, NC_000019.10:g.35276087_35276089dup, NC_000019.10:g.35276086_35276089dup, NC_000019.10:g.35276085_35276089dup, NC_000019.10:g.35276084_35276089dup, NC_000019.10:g.35276083_35276089dup, NC_000019.10:g.35276081_35276089dup, NC_000019.10:g.35276080_35276089dup, NC_000019.10:g.35276074_35276089dup, NC_000019.10:g.35276073_35276089dup, NC_000019.10:g.35276072_35276089dup, NC_000019.10:g.35276089_35276090insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.35276089_35276090insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.35766981_35766992del, NC_000019.9:g.35766982_35766992del, NC_000019.9:g.35766983_35766992del, NC_000019.9:g.35766984_35766992del, NC_000019.9:g.35766985_35766992del, NC_000019.9:g.35766986_35766992del, NC_000019.9:g.35766987_35766992del, NC_000019.9:g.35766988_35766992del, NC_000019.9:g.35766990_35766992del, NC_000019.9:g.35766991_35766992del, NC_000019.9:g.35766992del, NC_000019.9:g.35766992dup, NC_000019.9:g.35766991_35766992dup, NC_000019.9:g.35766990_35766992dup, NC_000019.9:g.35766989_35766992dup, NC_000019.9:g.35766988_35766992dup, NC_000019.9:g.35766987_35766992dup, NC_000019.9:g.35766986_35766992dup, NC_000019.9:g.35766984_35766992dup, NC_000019.9:g.35766983_35766992dup, NC_000019.9:g.35766977_35766992dup, NC_000019.9:g.35766976_35766992dup, NC_000019.9:g.35766975_35766992dup, NC_000019.9:g.35766992_35766993insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.35766992_35766993insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029241.1:g.12086_12097del, NG_029241.1:g.12087_12097del, NG_029241.1:g.12088_12097del, NG_029241.1:g.12089_12097del, NG_029241.1:g.12090_12097del, NG_029241.1:g.12091_12097del, NG_029241.1:g.12092_12097del, NG_029241.1:g.12093_12097del, NG_029241.1:g.12095_12097del, NG_029241.1:g.12096_12097del, NG_029241.1:g.12097del, NG_029241.1:g.12097dup, NG_029241.1:g.12096_12097dup, NG_029241.1:g.12095_12097dup, NG_029241.1:g.12094_12097dup, NG_029241.1:g.12093_12097dup, NG_029241.1:g.12092_12097dup, NG_029241.1:g.12091_12097dup, NG_029241.1:g.12089_12097dup, NG_029241.1:g.12088_12097dup, NG_029241.1:g.12082_12097dup, NG_029241.1:g.12081_12097dup, NG_029241.1:g.12080_12097dup, NG_029241.1:g.12097_12098insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029241.1:g.12097_12098insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011527261.3:c.*288_*299del, XM_011527261.3:c.*289_*299del, XM_011527261.3:c.*290_*299del, XM_011527261.3:c.*291_*299del, XM_011527261.3:c.*292_*299del, XM_011527261.3:c.*293_*299del, XM_011527261.3:c.*294_*299del, XM_011527261.3:c.*295_*299del, XM_011527261.3:c.*297_*299del, XM_011527261.3:c.*298_*299del, XM_011527261.3:c.*299del, XM_011527261.3:c.*299dup, XM_011527261.3:c.*298_*299dup, XM_011527261.3:c.*297_*299dup, XM_011527261.3:c.*296_*299dup, XM_011527261.3:c.*295_*299dup, XM_011527261.3:c.*294_*299dup, XM_011527261.3:c.*293_*299dup, XM_011527261.3:c.*291_*299dup, XM_011527261.3:c.*290_*299dup, XM_011527261.3:c.*284_*299dup, XM_011527261.3:c.*283_*299dup, XM_011527261.3:c.*282_*299dup, XM_011527261.3:c.*299_*300insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011527261.3:c.*299_*300insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011527261.2:c.*288_*299del, XM_011527261.2:c.*289_*299del, XM_011527261.2:c.*290_*299del, XM_011527261.2:c.*291_*299del, XM_011527261.2:c.*292_*299del, XM_011527261.2:c.*293_*299del, XM_011527261.2:c.*294_*299del, XM_011527261.2:c.*295_*299del, XM_011527261.2:c.*297_*299del, XM_011527261.2:c.*298_*299del, XM_011527261.2:c.*299del, XM_011527261.2:c.*299dup, XM_011527261.2:c.*298_*299dup, XM_011527261.2:c.*297_*299dup, XM_011527261.2:c.*296_*299dup, XM_011527261.2:c.*295_*299dup, XM_011527261.2:c.*294_*299dup, XM_011527261.2:c.*293_*299dup, XM_011527261.2:c.*291_*299dup, XM_011527261.2:c.*290_*299dup, XM_011527261.2:c.*284_*299dup, XM_011527261.2:c.*283_*299dup, XM_011527261.2:c.*282_*299dup, XM_011527261.2:c.*299_*300insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011527261.2:c.*299_*300insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011527261.1:c.*288_*299del, XM_011527261.1:c.*289_*299del, XM_011527261.1:c.*290_*299del, XM_011527261.1:c.*291_*299del, XM_011527261.1:c.*292_*299del, XM_011527261.1:c.*293_*299del, XM_011527261.1:c.*294_*299del, XM_011527261.1:c.*295_*299del, XM_011527261.1:c.*297_*299del, XM_011527261.1:c.*298_*299del, XM_011527261.1:c.*299del, XM_011527261.1:c.*299dup, XM_011527261.1:c.*298_*299dup, XM_011527261.1:c.*297_*299dup, XM_011527261.1:c.*296_*299dup, XM_011527261.1:c.*295_*299dup, XM_011527261.1:c.*294_*299dup, XM_011527261.1:c.*293_*299dup, XM_011527261.1:c.*291_*299dup, XM_011527261.1:c.*290_*299dup, XM_011527261.1:c.*284_*299dup, XM_011527261.1:c.*283_*299dup, XM_011527261.1:c.*282_*299dup, XM_011527261.1:c.*299_*300insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011527261.1:c.*299_*300insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          5.

          rs1491079274 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            19:35274953 (GRCh38)
            19:35765856 (GRCh37)
            Canonical SPDI:
            NC_000019.10:35274952:TT:
            Gene:
            USF2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.000038/10 (TOPMED)
            -=0.000057/8 (GnomAD)
            HGVS:
            6.

            rs1491055826 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              ->TTTTTTTTT
              Chromosome:
              no mapping
              Canonical SPDI:
              7.

              rs1490822229 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:35268397 (GRCh38)
                19:35759300 (GRCh37)
                Canonical SPDI:
                NC_000019.10:35268396:C:T
                Gene:
                USF2 (Varview), LSR (Varview)
                Functional Consequence:
                2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000199/26 (GnomAD)
                HGVS:
                8.

                rs1490667821 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  19:35270976 (GRCh38)
                  19:35761879 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:35270975:G:A,NC_000019.10:35270975:G:C
                  Gene:
                  USF2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  A=0.000071/2 (TOMMO)
                  HGVS:
                  9.

                  rs1490451325 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AG>- [Show Flanks]
                    Chromosome:
                    19:35276684 (GRCh38)
                    19:35767587 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:35276681:AGAG:AG
                    Gene:
                    USF2 (Varview)
                    Functional Consequence:
                    intron_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AGAG=0./0 (ALFA)
                    -=0.000007/1 (GnomAD)
                    -=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490158238 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      19:35267557 (GRCh38)
                      19:35758460 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:35267556:C:G,NC_000019.10:35267556:C:T
                      Gene:
                      USF2 (Varview), LSR (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000028/1 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000019.10:g.35267557C>G, NC_000019.10:g.35267557C>T, NC_000019.9:g.35758460C>G, NC_000019.9:g.35758460C>T, NG_029241.1:g.3565C>G, NG_029241.1:g.3565C>T, NM_015925.7:c.1536C>G, NM_015925.7:c.1536C>T, NM_015925.6:c.1680C>G, NM_015925.6:c.1680C>T, NM_205834.4:c.1593C>G, NM_205834.4:c.1593C>T, NM_205834.3:c.1737C>G, NM_205834.3:c.1737C>T, NM_205835.4:c.1389C>G, NM_205835.4:c.1389C>T, NM_205835.3:c.1533C>G, NM_205835.3:c.1533C>T, XM_005258980.3:c.1590C>G, XM_005258980.3:c.1590C>T, XM_005258980.2:c.1734C>G, XM_005258980.2:c.1734C>T, XM_005258980.1:c.1734C>G, XM_005258980.1:c.1734C>T, XM_011527026.3:c.1446C>G, XM_011527026.3:c.1446C>T, XM_011527026.2:c.1590C>G, XM_011527026.2:c.1590C>T, XM_011527026.1:c.1590C>G, XM_011527026.1:c.1590C>T, NM_001260489.2:c.1533C>G, NM_001260489.2:c.1533C>T, NM_001260489.1:c.1677C>G, NM_001260489.1:c.1677C>T, NM_001260490.2:c.1269C>G, NM_001260490.2:c.1269C>T, NM_001260490.1:c.1413C>G, NM_001260490.1:c.1413C>T, XM_047438920.1:c.1443C>G, XM_047438920.1:c.1443C>T, NM_001385215.1:c.1386C>G, NM_001385215.1:c.1386C>T, XM_047438921.1:c.1266C>G, XM_047438921.1:c.1266C>T
                      11.

                      rs1490045746 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->G [Show Flanks]
                        Chromosome:
                        19:35278091 (GRCh38)
                        19:35768995 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:35278091:GGG:GGGG
                        Gene:
                        USF2 (Varview)
                        Functional Consequence:
                        intron_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GGGG=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490030727 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:35279814 (GRCh38)
                          19:35770717 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:35279813:G:A
                          Gene:
                          USF2 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.00005/7 (GnomAD)
                          A=0.000072/19 (TOPMED)
                          HGVS:
                          13.

                          rs1489959790 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            19:35277042 (GRCh38)
                            19:35767945 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:35277041:C:A
                            Gene:
                            USF2 (Varview)
                            Functional Consequence:
                            intron_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000142/2 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1489889062 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              19:35277717 (GRCh38)
                              19:35768620 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:35277716:G:T
                              Gene:
                              USF2 (Varview)
                              Functional Consequence:
                              intron_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1489638735 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                19:35271028 (GRCh38)
                                19:35761931 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:35271027:T:A
                                Gene:
                                USF2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1489606497 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:35270925 (GRCh38)
                                  19:35761828 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:35270924:C:T
                                  Gene:
                                  USF2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489430398 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    19:35268192 (GRCh38)
                                    19:35759095 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:35268191:C:G
                                    Gene:
                                    USF2 (Varview), LSR (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000035/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1489316898 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      19:35278539 (GRCh38)
                                      19:35769442 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:35278538:GG:G
                                      Gene:
                                      USF2 (Varview)
                                      Functional Consequence:
                                      intron_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GG=0./0 (ALFA)
                                      -=0.000008/2 (TOPMED)
                                      -=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489285638 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        19:35279335 (GRCh38)
                                        19:35770238 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:35279334:G:A
                                        Gene:
                                        USF2 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

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