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Items: 1 to 20 of 517

1.
2.

rs1488118081 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:35684851 (GRCh38)
    3:35726343 (GRCh37)
    Canonical SPDI:
    NC_000003.12:35684850:T:C
    Gene:
    ARPP21 (Varview)
    Functional Consequence:
    intron_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    C=0.000342/1 (KOREAN)
    HGVS:
    4.

    rs1486211920 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TTTT [Show Flanks]
      Chromosome:
      3:35684815 (GRCh38)
      3:35726308 (GRCh37)
      Canonical SPDI:
      NC_000003.12:35684815:T:TTTTT
      Gene:
      ARPP21 (Varview)
      Functional Consequence:
      intron_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      TTTTT=0.0002/1 (ALFA)
      TTTT=0.0002/1 (Estonian)
      HGVS:
      5.

      rs1485678993 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        3:35685806 (GRCh38)
        3:35727298 (GRCh37)
        Canonical SPDI:
        NC_000003.12:35685805:C:T
        Gene:
        ARPP21 (Varview)
        Functional Consequence:
        intron_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        7.

        rs1484140436 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          3:35685360 (GRCh38)
          3:35726852 (GRCh37)
          Canonical SPDI:
          NC_000003.12:35685359:T:A
          Gene:
          ARPP21 (Varview)
          Functional Consequence:
          intron_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          8.

          rs1481888266 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            3:35681798 (GRCh38)
            3:35723290 (GRCh37)
            Canonical SPDI:
            NC_000003.12:35681797:G:C,NC_000003.12:35681797:G:T
            Gene:
            ARPP21 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.35681798G>C, NC_000003.12:g.35681798G>T, NC_000003.11:g.35723290G>C, NC_000003.11:g.35723290G>T, NG_050660.1:g.47625G>C, NG_050660.1:g.47625G>T, NM_016300.5:c.47G>C, NM_016300.5:c.47G>T, NM_016300.4:c.47G>C, NM_016300.4:c.47G>T, NM_001267619.2:c.47G>C, NM_001267619.2:c.47G>T, NM_001267619.1:c.47G>C, NM_001267619.1:c.47G>T, NM_001385588.2:c.47G>C, NM_001385588.2:c.47G>T, NM_001385588.1:c.47G>C, NM_001385588.1:c.47G>T, NM_001267616.2:c.47G>C, NM_001267616.2:c.47G>T, NM_001267616.1:c.47G>C, NM_001267616.1:c.47G>T, NM_001267617.2:c.47G>C, NM_001267617.2:c.47G>T, NM_001267617.1:c.47G>C, NM_001267617.1:c.47G>T, NM_001267618.2:c.47G>C, NM_001267618.2:c.47G>T, NM_001267618.1:c.47G>C, NM_001267618.1:c.47G>T, NM_198399.2:c.47G>C, NM_198399.2:c.47G>T, NM_198399.1:c.47G>C, NM_198399.1:c.47G>T, NR_170705.1:n.1133G>C, NR_170705.1:n.1133G>T, NM_001385562.1:c.47G>C, NM_001385562.1:c.47G>T, NM_001385495.1:c.47G>C, NM_001385495.1:c.47G>T, NM_001385564.1:c.47G>C, NM_001385564.1:c.47G>T, NM_001385558.1:c.47G>C, NM_001385558.1:c.47G>T, NM_001385497.1:c.47G>C, NM_001385497.1:c.47G>T, NM_001385536.1:c.47G>C, NM_001385536.1:c.47G>T, NM_001385563.1:c.47G>C, NM_001385563.1:c.47G>T, NM_001385492.1:c.47G>C, NM_001385492.1:c.47G>T, NR_170707.1:n.1133G>C, NR_170707.1:n.1133G>T, NM_001385556.1:c.47G>C, NM_001385556.1:c.47G>T, NM_001385496.1:c.47G>C, NM_001385496.1:c.47G>T, NR_169647.1:n.1133G>C, NR_169647.1:n.1133G>T, NR_169632.1:n.1133G>C, NR_169632.1:n.1133G>T, NR_169645.1:n.1133G>C, NR_169645.1:n.1133G>T, NM_001385491.1:c.47G>C, NM_001385491.1:c.47G>T, NR_169633.1:n.1133G>C, NR_169633.1:n.1133G>T, NM_001385517.1:c.47G>C, NM_001385517.1:c.47G>T, NR_169644.1:n.1133G>C, NR_169644.1:n.1133G>T, NR_169635.1:n.1133G>C, NR_169635.1:n.1133G>T, NR_170706.1:n.427G>C, NR_170706.1:n.427G>T, NM_001385490.1:c.47G>C, NM_001385490.1:c.47G>T, NR_169646.1:n.335G>C, NR_169646.1:n.335G>T, NM_001385593.1:c.47G>C, NM_001385593.1:c.47G>T, NM_001385585.1:c.47G>C, NM_001385585.1:c.47G>T, NM_001385489.1:c.47G>C, NM_001385489.1:c.47G>T, NM_001385590.1:c.47G>C, NM_001385590.1:c.47G>T, NM_001385595.1:c.47G>C, NM_001385595.1:c.47G>T, NM_001385594.1:c.47G>C, NM_001385594.1:c.47G>T, NM_001385592.1:c.47G>C, NM_001385592.1:c.47G>T, NM_001385484.1:c.47G>C, NM_001385484.1:c.47G>T, NM_001385591.1:c.47G>C, NM_001385591.1:c.47G>T, NM_001385589.1:c.47G>C, NM_001385589.1:c.47G>T, NM_001385488.1:c.47G>C, NM_001385488.1:c.47G>T, NM_001385567.1:c.47G>C, NM_001385567.1:c.47G>T, NM_001385565.1:c.47G>C, NM_001385565.1:c.47G>T, NM_001385577.1:c.47G>C, NM_001385577.1:c.47G>T, NM_001385487.1:c.47G>C, NM_001385487.1:c.47G>T, NM_001385485.1:c.47G>C, NM_001385485.1:c.47G>T, NM_001385486.1:c.47G>C, NM_001385486.1:c.47G>T, NM_001385587.1:c.47G>C, NM_001385587.1:c.47G>T, NM_001385573.1:c.47G>C, NM_001385573.1:c.47G>T, NM_001385578.1:c.47G>C, NM_001385578.1:c.47G>T, NM_001385574.1:c.47G>C, NM_001385574.1:c.47G>T, NM_001385582.1:c.47G>C, NM_001385582.1:c.47G>T, NM_001385566.1:c.47G>C, NM_001385566.1:c.47G>T, NM_001385576.1:c.47G>C, NM_001385576.1:c.47G>T, NM_001385584.1:c.47G>C, NM_001385584.1:c.47G>T, NM_001385581.1:c.47G>C, NM_001385581.1:c.47G>T, NM_001385580.1:c.47G>C, NM_001385580.1:c.47G>T, NM_001025069.1:c.47G>C, NM_001025069.1:c.47G>T, NM_001025068.1:c.47G>C, NM_001025068.1:c.47G>T, XM_011533303.4:c.47G>C, XM_011533303.4:c.47G>T, XM_011533303.3:c.47G>C, XM_011533303.3:c.47G>T, XM_011533303.2:c.47G>C, XM_011533303.2:c.47G>T, XM_011533303.1:c.47G>C, XM_011533303.1:c.47G>T, XM_011533299.4:c.47G>C, XM_011533299.4:c.47G>T, XM_011533299.3:c.47G>C, XM_011533299.3:c.47G>T, XM_011533299.2:c.47G>C, XM_011533299.2:c.47G>T, XM_011533299.1:c.47G>C, XM_011533299.1:c.47G>T, XM_011533302.4:c.47G>C, XM_011533302.4:c.47G>T, XM_011533302.3:c.47G>C, XM_011533302.3:c.47G>T, XM_011533302.2:c.47G>C, XM_011533302.2:c.47G>T, XM_011533302.1:c.47G>C, XM_011533302.1:c.47G>T, XM_011533300.4:c.47G>C, XM_011533300.4:c.47G>T, XM_011533300.3:c.47G>C, XM_011533300.3:c.47G>T, XM_011533300.2:c.47G>C, XM_011533300.2:c.47G>T, XM_011533300.1:c.47G>C, XM_011533300.1:c.47G>T, XM_011533301.4:c.47G>C, XM_011533301.4:c.47G>T, XM_011533301.3:c.47G>C, XM_011533301.3:c.47G>T, XM_011533301.2:c.47G>C, XM_011533301.2:c.47G>T, XM_011533301.1:c.47G>C, XM_011533301.1:c.47G>T, XM_017005580.3:c.47G>C, XM_017005580.3:c.47G>T, XM_017005580.2:c.47G>C, XM_017005580.2:c.47G>T, XM_017005580.1:c.47G>C, XM_017005580.1:c.47G>T, XM_017005598.3:c.47G>C, XM_017005598.3:c.47G>T, XM_017005598.2:c.47G>C, XM_017005598.2:c.47G>T, XM_017005598.1:c.47G>C, XM_017005598.1:c.47G>T, XM_017005584.3:c.47G>C, XM_017005584.3:c.47G>T, XM_017005584.2:c.47G>C, XM_017005584.2:c.47G>T, XM_017005584.1:c.47G>C, XM_017005584.1:c.47G>T, XM_017005591.3:c.47G>C, XM_017005591.3:c.47G>T, XM_017005591.2:c.47G>C, XM_017005591.2:c.47G>T, XM_017005591.1:c.47G>C, XM_017005591.1:c.47G>T, XM_017005596.3:c.47G>C, XM_017005596.3:c.47G>T, XM_017005596.2:c.47G>C, XM_017005596.2:c.47G>T, XM_017005596.1:c.47G>C, XM_017005596.1:c.47G>T, XM_017005574.3:c.47G>C, XM_017005574.3:c.47G>T, XM_017005574.2:c.47G>C, XM_017005574.2:c.47G>T, XM_017005574.1:c.47G>C, XM_017005574.1:c.47G>T, XM_017005575.3:c.47G>C, XM_017005575.3:c.47G>T, XM_017005575.2:c.47G>C, XM_017005575.2:c.47G>T, XM_017005575.1:c.47G>C, XM_017005575.1:c.47G>T, XM_017005590.3:c.47G>C, XM_017005590.3:c.47G>T, XM_017005590.2:c.47G>C, XM_017005590.2:c.47G>T, XM_017005590.1:c.47G>C, XM_017005590.1:c.47G>T, XM_024453320.2:c.47G>C, XM_024453320.2:c.47G>T, XM_024453320.1:c.47G>C, XM_024453320.1:c.47G>T, XM_024453322.2:c.47G>C, XM_024453322.2:c.47G>T, XM_024453322.1:c.47G>C, XM_024453322.1:c.47G>T, XM_024453323.2:c.47G>C, XM_024453323.2:c.47G>T, XM_024453323.1:c.47G>C, XM_024453323.1:c.47G>T, NM_001385561.1:c.-837G>C, NM_001385561.1:c.-837G>T, NM_001385555.1:c.-649G>C, NM_001385555.1:c.-649G>T, NM_001385575.1:c.-837G>C, NM_001385575.1:c.-837G>T, XM_047447338.1:c.47G>C, XM_047447338.1:c.47G>T, XM_047447339.1:c.47G>C, XM_047447339.1:c.47G>T, XM_047447337.1:c.47G>C, XM_047447337.1:c.47G>T, XM_047447340.1:c.47G>C, XM_047447340.1:c.47G>T, NP_057384.2:p.Gly16Ala, NP_057384.2:p.Gly16Val, NP_001254548.1:p.Gly16Ala, NP_001254548.1:p.Gly16Val, NP_001372517.1:p.Gly16Ala, NP_001372517.1:p.Gly16Val, NP_001254545.1:p.Gly16Ala, NP_001254545.1:p.Gly16Val, NP_001254546.1:p.Gly16Ala, NP_001254546.1:p.Gly16Val, NP_001254547.1:p.Gly16Ala, NP_001254547.1:p.Gly16Val, NP_938409.1:p.Gly16Ala, NP_938409.1:p.Gly16Val, NP_001372491.1:p.Gly16Ala, NP_001372491.1:p.Gly16Val, NP_001372424.1:p.Gly16Ala, NP_001372424.1:p.Gly16Val, NP_001372493.1:p.Gly16Ala, NP_001372493.1:p.Gly16Val, NP_001372487.1:p.Gly16Ala, NP_001372487.1:p.Gly16Val, NP_001372426.1:p.Gly16Ala, NP_001372426.1:p.Gly16Val, NP_001372465.1:p.Gly16Ala, NP_001372465.1:p.Gly16Val, NP_001372492.1:p.Gly16Ala, NP_001372492.1:p.Gly16Val, NP_001372421.1:p.Gly16Ala, NP_001372421.1:p.Gly16Val, NP_001372485.1:p.Gly16Ala, NP_001372485.1:p.Gly16Val, NP_001372425.1:p.Gly16Ala, NP_001372425.1:p.Gly16Val, NP_001372420.1:p.Gly16Ala, NP_001372420.1:p.Gly16Val, NP_001372446.1:p.Gly16Ala, NP_001372446.1:p.Gly16Val, NP_001372419.1:p.Gly16Ala, NP_001372419.1:p.Gly16Val, NP_001372522.1:p.Gly16Ala, NP_001372522.1:p.Gly16Val, NP_001372514.1:p.Gly16Ala, NP_001372514.1:p.Gly16Val, NP_001372418.1:p.Gly16Ala, NP_001372418.1:p.Gly16Val, NP_001372519.1:p.Gly16Ala, NP_001372519.1:p.Gly16Val, NP_001372524.1:p.Gly16Ala, NP_001372524.1:p.Gly16Val, NP_001372523.1:p.Gly16Ala, NP_001372523.1:p.Gly16Val, NP_001372521.1:p.Gly16Ala, NP_001372521.1:p.Gly16Val, NP_001372413.1:p.Gly16Ala, NP_001372413.1:p.Gly16Val, NP_001372520.1:p.Gly16Ala, NP_001372520.1:p.Gly16Val, NP_001372518.1:p.Gly16Ala, NP_001372518.1:p.Gly16Val, NP_001372417.1:p.Gly16Ala, NP_001372417.1:p.Gly16Val, NP_001372496.1:p.Gly16Ala, NP_001372496.1:p.Gly16Val, NP_001372494.1:p.Gly16Ala, NP_001372494.1:p.Gly16Val, NP_001372506.1:p.Gly16Ala, NP_001372506.1:p.Gly16Val, NP_001372416.1:p.Gly16Ala, NP_001372416.1:p.Gly16Val, NP_001372414.1:p.Gly16Ala, NP_001372414.1:p.Gly16Val, NP_001372415.1:p.Gly16Ala, NP_001372415.1:p.Gly16Val, NP_001372516.1:p.Gly16Ala, NP_001372516.1:p.Gly16Val, NP_001372502.1:p.Gly16Ala, NP_001372502.1:p.Gly16Val, NP_001372507.1:p.Gly16Ala, NP_001372507.1:p.Gly16Val, NP_001372503.1:p.Gly16Ala, NP_001372503.1:p.Gly16Val, NP_001372511.1:p.Gly16Ala, NP_001372511.1:p.Gly16Val, NP_001372495.1:p.Gly16Ala, NP_001372495.1:p.Gly16Val, NP_001372505.1:p.Gly16Ala, NP_001372505.1:p.Gly16Val, NP_001372513.1:p.Gly16Ala, NP_001372513.1:p.Gly16Val, NP_001372510.1:p.Gly16Ala, NP_001372510.1:p.Gly16Val, NP_001372509.1:p.Gly16Ala, NP_001372509.1:p.Gly16Val, NP_001020240.1:p.Gly16Ala, NP_001020240.1:p.Gly16Val, NP_001020239.1:p.Gly16Ala, NP_001020239.1:p.Gly16Val, XP_011531605.1:p.Gly16Ala, XP_011531605.1:p.Gly16Val, XP_011531601.1:p.Gly16Ala, XP_011531601.1:p.Gly16Val, XP_011531604.1:p.Gly16Ala, XP_011531604.1:p.Gly16Val, XP_011531602.1:p.Gly16Ala, XP_011531602.1:p.Gly16Val, XP_011531603.1:p.Gly16Ala, XP_011531603.1:p.Gly16Val, XP_016861069.1:p.Gly16Ala, XP_016861069.1:p.Gly16Val, XP_016861087.1:p.Gly16Ala, XP_016861087.1:p.Gly16Val, XP_016861073.1:p.Gly16Ala, XP_016861073.1:p.Gly16Val, XP_016861080.1:p.Gly16Ala, XP_016861080.1:p.Gly16Val, XP_016861085.1:p.Gly16Ala, XP_016861085.1:p.Gly16Val, XP_016861063.1:p.Gly16Ala, XP_016861063.1:p.Gly16Val, XP_016861064.1:p.Gly16Ala, XP_016861064.1:p.Gly16Val, XP_016861079.1:p.Gly16Ala, XP_016861079.1:p.Gly16Val, XP_024309088.1:p.Gly16Ala, XP_024309088.1:p.Gly16Val, XP_024309090.1:p.Gly16Ala, XP_024309090.1:p.Gly16Val, XP_024309091.1:p.Gly16Ala, XP_024309091.1:p.Gly16Val, XP_047303294.1:p.Gly16Ala, XP_047303294.1:p.Gly16Val, XP_047303295.1:p.Gly16Ala, XP_047303295.1:p.Gly16Val, XP_047303293.1:p.Gly16Ala, XP_047303293.1:p.Gly16Val, XP_047303296.1:p.Gly16Ala, XP_047303296.1:p.Gly16Val
            9.

            rs1479438628 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              3:35684800 (GRCh38)
              3:35726292 (GRCh37)
              Canonical SPDI:
              NC_000003.12:35684799:G:T
              Gene:
              ARPP21 (Varview)
              Functional Consequence:
              3_prime_UTR_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:
              10.

              rs1478649919 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                3:35685724 (GRCh38)
                3:35727216 (GRCh37)
                Canonical SPDI:
                NC_000003.12:35685723:A:C
                Gene:
                ARPP21 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000094/1 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                11.

                rs1478464726 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:35685585 (GRCh38)
                  3:35727077 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:35685584:A:G
                  Gene:
                  ARPP21 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  12.

                  rs1477660926 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    T>- [Show Flanks]
                    Chromosome:
                    3:35684679 (GRCh38)
                    3:35726171 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:35684678:TTTTTT:TTTTT
                    Gene:
                    ARPP21 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTT=0./0 (ALFA)
                    -=0.000049/13 (TOPMED)
                    -=0.000057/8 (GnomAD)
                    HGVS:
                    13.

                    rs1474695945 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      3:35685777 (GRCh38)
                      3:35727269 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:35685776:A:G
                      Gene:
                      ARPP21 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      14.

                      rs1474595541 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:35684759 (GRCh38)
                        3:35726251 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:35684758:G:A
                        Gene:
                        ARPP21 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        16.

                        rs1472751848 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          3:35679818 (GRCh38)
                          3:35721310 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:35679817:C:T
                          Gene:
                          ARPP21 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000036/5 (GnomAD)
                          HGVS:
                          NC_000003.12:g.35679818C>T, NC_000003.11:g.35721310C>T, NG_050660.1:g.45645C>T, NM_016300.5:c.-181C>T, NM_016300.4:c.-181C>T, NM_001267619.2:c.-181C>T, NM_001267619.1:c.-181C>T, NM_001385588.2:c.-181C>T, NM_001385588.1:c.-181C>T, NM_001267616.2:c.-181C>T, NM_001267616.1:c.-181C>T, NM_001267617.2:c.-181C>T, NM_001267617.1:c.-181C>T, NM_001267618.2:c.-181C>T, NM_001267618.1:c.-181C>T, NR_170705.1:n.906C>T, NM_001385562.1:c.-181C>T, NM_001385495.1:c.-181C>T, NM_001385564.1:c.-273C>T, NM_001385558.1:c.-181C>T, NM_001385497.1:c.-273C>T, NM_001385536.1:c.-181C>T, NM_001385563.1:c.-181C>T, NM_001385492.1:c.-181C>T, NR_170707.1:n.906C>T, NM_001385556.1:c.-181C>T, NM_001385496.1:c.-181C>T, NR_169647.1:n.906C>T, NR_169632.1:n.906C>T, NR_169645.1:n.906C>T, NM_001385491.1:c.-181C>T, NR_169633.1:n.906C>T, NM_001385517.1:c.-181C>T, NR_169644.1:n.906C>T, NR_169635.1:n.906C>T, NR_170706.1:n.200C>T, NM_001385490.1:c.-181C>T, NR_169646.1:n.108C>T, NM_001385593.1:c.-273C>T, NM_001385585.1:c.-273C>T, NM_001385489.1:c.-181C>T, NM_001385590.1:c.-273C>T, NM_001385595.1:c.-181C>T, NM_001385594.1:c.-181C>T, NM_001385592.1:c.-181C>T, NM_001385484.1:c.-181C>T, NM_001385591.1:c.-181C>T, NM_001385589.1:c.-181C>T, NM_001385488.1:c.-181C>T, NM_001385567.1:c.-181C>T, NM_001385565.1:c.-181C>T, NM_001385577.1:c.-273C>T, NM_001385487.1:c.-181C>T, NM_001385485.1:c.-181C>T, NM_001385486.1:c.-181C>T, NM_001385573.1:c.-181C>T, NM_001385578.1:c.-181C>T, NM_001385574.1:c.-181C>T, NM_001385582.1:c.-181C>T, NM_001385566.1:c.-181C>T, NM_001385576.1:c.-181C>T, NM_001025069.1:c.-181C>T, NM_001025068.1:c.-181C>T, XM_011533303.4:c.-273C>T, XM_011533303.3:c.-273C>T, XM_011533303.2:c.-273C>T, XM_011533303.1:c.-273C>T, XM_011533299.4:c.-181C>T, XM_011533299.3:c.-181C>T, XM_011533299.2:c.-181C>T, XM_011533299.1:c.-181C>T, XM_011533302.4:c.-273C>T, XM_011533302.3:c.-273C>T, XM_011533302.2:c.-273C>T, XM_011533302.1:c.-273C>T, XM_011533300.4:c.-181C>T, XM_011533300.3:c.-181C>T, XM_011533300.2:c.-181C>T, XM_011533300.1:c.-181C>T, XM_011533301.4:c.-181C>T, XM_011533301.3:c.-181C>T, XM_011533301.2:c.-181C>T, XM_011533301.1:c.-181C>T, XM_017005580.3:c.-273C>T, XM_017005580.2:c.-273C>T, XM_017005580.1:c.-273C>T, XM_017005598.3:c.-273C>T, XM_017005598.2:c.-273C>T, XM_017005598.1:c.-273C>T, XM_017005584.3:c.-181C>T, XM_017005584.2:c.-181C>T, XM_017005584.1:c.-181C>T, XM_017005591.3:c.-181C>T, XM_017005591.2:c.-181C>T, XM_017005591.1:c.-181C>T, XM_017005596.3:c.-181C>T, XM_017005596.2:c.-181C>T, XM_017005596.1:c.-181C>T, XM_017005574.3:c.-181C>T, XM_017005574.2:c.-181C>T, XM_017005574.1:c.-181C>T, XM_017005575.3:c.-273C>T, XM_017005575.2:c.-273C>T, XM_017005575.1:c.-273C>T, XM_017005590.3:c.-273C>T, XM_017005590.2:c.-273C>T, XM_017005590.1:c.-273C>T, XM_024453320.2:c.-181C>T, XM_024453320.1:c.-181C>T, XM_024453322.2:c.-181C>T, XM_024453322.1:c.-181C>T, XM_024453323.2:c.-181C>T, XM_024453323.1:c.-181C>T, NM_001385561.1:c.-1064C>T, NM_001385555.1:c.-876C>T, NM_001385575.1:c.-1064C>T, XM_047447338.1:c.-181C>T, XM_047447339.1:c.-181C>T, XM_047447337.1:c.-181C>T, XM_047447340.1:c.-181C>T
                          17.

                          rs1469543992 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:35679805 (GRCh38)
                            3:35721297 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:35679804:T:C
                            Gene:
                            ARPP21 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000036/5 (GnomAD)
                            C=0.000094/25 (TOPMED)
                            C=0.000283/5 (TOMMO)
                            C=0.001027/3 (KOREAN)
                            HGVS:
                            NC_000003.12:g.35679805T>C, NC_000003.11:g.35721297T>C, NG_050660.1:g.45632T>C, NM_016300.5:c.-194T>C, NM_016300.4:c.-194T>C, NM_001267619.2:c.-194T>C, NM_001267619.1:c.-194T>C, NM_001385588.2:c.-194T>C, NM_001385588.1:c.-194T>C, NM_001267616.2:c.-194T>C, NM_001267616.1:c.-194T>C, NM_001267617.2:c.-194T>C, NM_001267617.1:c.-194T>C, NM_001267618.2:c.-194T>C, NM_001267618.1:c.-194T>C, NR_170705.1:n.893T>C, NM_001385562.1:c.-194T>C, NM_001385495.1:c.-194T>C, NM_001385564.1:c.-286T>C, NM_001385558.1:c.-194T>C, NM_001385497.1:c.-286T>C, NM_001385536.1:c.-194T>C, NM_001385563.1:c.-194T>C, NM_001385492.1:c.-194T>C, NR_170707.1:n.893T>C, NM_001385556.1:c.-194T>C, NM_001385496.1:c.-194T>C, NR_169647.1:n.893T>C, NR_169632.1:n.893T>C, NR_169645.1:n.893T>C, NM_001385491.1:c.-194T>C, NR_169633.1:n.893T>C, NM_001385517.1:c.-194T>C, NR_169644.1:n.893T>C, NR_169635.1:n.893T>C, NR_170706.1:n.187T>C, NM_001385490.1:c.-194T>C, NR_169646.1:n.95T>C, NM_001385593.1:c.-286T>C, NM_001385585.1:c.-286T>C, NM_001385489.1:c.-194T>C, NM_001385590.1:c.-286T>C, NM_001385595.1:c.-194T>C, NM_001385594.1:c.-194T>C, NM_001385592.1:c.-194T>C, NM_001385484.1:c.-194T>C, NM_001385591.1:c.-194T>C, NM_001385589.1:c.-194T>C, NM_001385488.1:c.-194T>C, NM_001385567.1:c.-194T>C, NM_001385565.1:c.-194T>C, NM_001385577.1:c.-286T>C, NM_001385487.1:c.-194T>C, NM_001385485.1:c.-194T>C, NM_001385486.1:c.-194T>C, NM_001385573.1:c.-194T>C, NM_001385578.1:c.-194T>C, NM_001385574.1:c.-194T>C, NM_001385582.1:c.-194T>C, NM_001385566.1:c.-194T>C, NM_001385576.1:c.-194T>C, NM_001025069.1:c.-194T>C, NM_001025068.1:c.-194T>C, XM_011533303.4:c.-286T>C, XM_011533303.3:c.-286T>C, XM_011533303.2:c.-286T>C, XM_011533303.1:c.-286T>C, XM_011533299.4:c.-194T>C, XM_011533299.3:c.-194T>C, XM_011533299.2:c.-194T>C, XM_011533299.1:c.-194T>C, XM_011533302.4:c.-286T>C, XM_011533302.3:c.-286T>C, XM_011533302.2:c.-286T>C, XM_011533302.1:c.-286T>C, XM_011533300.4:c.-194T>C, XM_011533300.3:c.-194T>C, XM_011533300.2:c.-194T>C, XM_011533300.1:c.-194T>C, XM_011533301.4:c.-194T>C, XM_011533301.3:c.-194T>C, XM_011533301.2:c.-194T>C, XM_011533301.1:c.-194T>C, XM_017005580.3:c.-286T>C, XM_017005580.2:c.-286T>C, XM_017005580.1:c.-286T>C, XM_017005598.3:c.-286T>C, XM_017005598.2:c.-286T>C, XM_017005598.1:c.-286T>C, XM_017005584.3:c.-194T>C, XM_017005584.2:c.-194T>C, XM_017005584.1:c.-194T>C, XM_017005591.3:c.-194T>C, XM_017005591.2:c.-194T>C, XM_017005591.1:c.-194T>C, XM_017005596.3:c.-194T>C, XM_017005596.2:c.-194T>C, XM_017005596.1:c.-194T>C, XM_017005574.3:c.-194T>C, XM_017005574.2:c.-194T>C, XM_017005574.1:c.-194T>C, XM_017005575.3:c.-286T>C, XM_017005575.2:c.-286T>C, XM_017005575.1:c.-286T>C, XM_017005590.3:c.-286T>C, XM_017005590.2:c.-286T>C, XM_017005590.1:c.-286T>C, XM_024453320.2:c.-194T>C, XM_024453320.1:c.-194T>C, XM_024453322.2:c.-194T>C, XM_024453322.1:c.-194T>C, XM_024453323.2:c.-194T>C, XM_024453323.1:c.-194T>C, NM_001385561.1:c.-1077T>C, NM_001385555.1:c.-889T>C, NM_001385575.1:c.-1077T>C, XM_047447338.1:c.-194T>C, XM_047447339.1:c.-194T>C, XM_047447337.1:c.-194T>C, XM_047447340.1:c.-194T>C
                            18.

                            rs1469351669 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              3:35685635 (GRCh38)
                              3:35727127 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:35685634:G:T
                              Gene:
                              ARPP21 (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=0.000014/2 (GnomAD)
                              HGVS:
                              19.

                              rs1469269505 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                3:35681715 (GRCh38)
                                3:35723207 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:35681714:G:A
                                Gene:
                                ARPP21 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000029/4 (GnomAD)
                                HGVS:
                                NC_000003.12:g.35681715G>A, NC_000003.11:g.35723207G>A, NG_050660.1:g.47542G>A, NM_016300.5:c.-37G>A, NM_016300.4:c.-37G>A, NM_001267619.2:c.-37G>A, NM_001267619.1:c.-37G>A, NM_001385588.2:c.-37G>A, NM_001385588.1:c.-37G>A, NM_001267616.2:c.-37G>A, NM_001267616.1:c.-37G>A, NM_001267617.2:c.-37G>A, NM_001267617.1:c.-37G>A, NM_001267618.2:c.-37G>A, NM_001267618.1:c.-37G>A, NM_198399.2:c.-37G>A, NM_198399.1:c.-37G>A, NR_170705.1:n.1050G>A, NM_001385562.1:c.-37G>A, NM_001385495.1:c.-37G>A, NM_001385564.1:c.-37G>A, NM_001385558.1:c.-37G>A, NM_001385497.1:c.-37G>A, NM_001385536.1:c.-37G>A, NM_001385563.1:c.-37G>A, NM_001385492.1:c.-37G>A, NR_170707.1:n.1050G>A, NM_001385556.1:c.-37G>A, NM_001385496.1:c.-37G>A, NR_169647.1:n.1050G>A, NR_169632.1:n.1050G>A, NR_169645.1:n.1050G>A, NM_001385491.1:c.-37G>A, NR_169633.1:n.1050G>A, NM_001385517.1:c.-37G>A, NR_169644.1:n.1050G>A, NR_169635.1:n.1050G>A, NR_170706.1:n.344G>A, NM_001385490.1:c.-37G>A, NR_169646.1:n.252G>A, NM_001385593.1:c.-37G>A, NM_001385585.1:c.-37G>A, NM_001385489.1:c.-37G>A, NM_001385590.1:c.-37G>A, NM_001385595.1:c.-37G>A, NM_001385594.1:c.-37G>A, NM_001385592.1:c.-37G>A, NM_001385484.1:c.-37G>A, NM_001385591.1:c.-37G>A, NM_001385589.1:c.-37G>A, NM_001385488.1:c.-37G>A, NM_001385567.1:c.-37G>A, NM_001385565.1:c.-37G>A, NM_001385577.1:c.-37G>A, NM_001385487.1:c.-37G>A, NM_001385485.1:c.-37G>A, NM_001385486.1:c.-37G>A, NM_001385587.1:c.-37G>A, NM_001385573.1:c.-37G>A, NM_001385578.1:c.-37G>A, NM_001385574.1:c.-37G>A, NM_001385582.1:c.-37G>A, NM_001385566.1:c.-37G>A, NM_001385576.1:c.-37G>A, NM_001385584.1:c.-37G>A, NM_001385581.1:c.-37G>A, NM_001385580.1:c.-37G>A, NM_001025069.1:c.-37G>A, NM_001025068.1:c.-37G>A, XM_011533303.4:c.-37G>A, XM_011533303.3:c.-37G>A, XM_011533303.2:c.-37G>A, XM_011533303.1:c.-37G>A, XM_011533299.4:c.-37G>A, XM_011533299.3:c.-37G>A, XM_011533299.2:c.-37G>A, XM_011533299.1:c.-37G>A, XM_011533302.4:c.-37G>A, XM_011533302.3:c.-37G>A, XM_011533302.2:c.-37G>A, XM_011533302.1:c.-37G>A, XM_011533300.4:c.-37G>A, XM_011533300.3:c.-37G>A, XM_011533300.2:c.-37G>A, XM_011533300.1:c.-37G>A, XM_011533301.4:c.-37G>A, XM_011533301.3:c.-37G>A, XM_011533301.2:c.-37G>A, XM_011533301.1:c.-37G>A, XM_017005580.3:c.-37G>A, XM_017005580.2:c.-37G>A, XM_017005580.1:c.-37G>A, XM_017005598.3:c.-37G>A, XM_017005598.2:c.-37G>A, XM_017005598.1:c.-37G>A, XM_017005584.3:c.-37G>A, XM_017005584.2:c.-37G>A, XM_017005584.1:c.-37G>A, XM_017005591.3:c.-37G>A, XM_017005591.2:c.-37G>A, XM_017005591.1:c.-37G>A, XM_017005596.3:c.-37G>A, XM_017005596.2:c.-37G>A, XM_017005596.1:c.-37G>A, XM_017005574.3:c.-37G>A, XM_017005574.2:c.-37G>A, XM_017005574.1:c.-37G>A, XM_017005575.3:c.-37G>A, XM_017005575.2:c.-37G>A, XM_017005575.1:c.-37G>A, XM_017005590.3:c.-37G>A, XM_017005590.2:c.-37G>A, XM_017005590.1:c.-37G>A, XM_024453320.2:c.-37G>A, XM_024453320.1:c.-37G>A, XM_024453322.2:c.-37G>A, XM_024453322.1:c.-37G>A, XM_024453323.2:c.-37G>A, XM_024453323.1:c.-37G>A, NM_001385561.1:c.-920G>A, NM_001385555.1:c.-732G>A, NM_001385575.1:c.-920G>A, XM_047447338.1:c.-37G>A, XM_047447339.1:c.-37G>A, XM_047447337.1:c.-37G>A, XM_047447340.1:c.-37G>A
                                20.

                                rs1468610397 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:35681781 (GRCh38)
                                  3:35723273 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:35681780:A:G
                                  Gene:
                                  ARPP21 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  NC_000003.12:g.35681781A>G, NC_000003.11:g.35723273A>G, NG_050660.1:g.47608A>G, NM_016300.5:c.30A>G, NM_016300.4:c.30A>G, NM_001267619.2:c.30A>G, NM_001267619.1:c.30A>G, NM_001385588.2:c.30A>G, NM_001385588.1:c.30A>G, NM_001267616.2:c.30A>G, NM_001267616.1:c.30A>G, NM_001267617.2:c.30A>G, NM_001267617.1:c.30A>G, NM_001267618.2:c.30A>G, NM_001267618.1:c.30A>G, NM_198399.2:c.30A>G, NM_198399.1:c.30A>G, NR_170705.1:n.1116A>G, NM_001385562.1:c.30A>G, NM_001385495.1:c.30A>G, NM_001385564.1:c.30A>G, NM_001385558.1:c.30A>G, NM_001385497.1:c.30A>G, NM_001385536.1:c.30A>G, NM_001385563.1:c.30A>G, NM_001385492.1:c.30A>G, NR_170707.1:n.1116A>G, NM_001385556.1:c.30A>G, NM_001385496.1:c.30A>G, NR_169647.1:n.1116A>G, NR_169632.1:n.1116A>G, NR_169645.1:n.1116A>G, NM_001385491.1:c.30A>G, NR_169633.1:n.1116A>G, NM_001385517.1:c.30A>G, NR_169644.1:n.1116A>G, NR_169635.1:n.1116A>G, NR_170706.1:n.410A>G, NM_001385490.1:c.30A>G, NR_169646.1:n.318A>G, NM_001385593.1:c.30A>G, NM_001385585.1:c.30A>G, NM_001385489.1:c.30A>G, NM_001385590.1:c.30A>G, NM_001385595.1:c.30A>G, NM_001385594.1:c.30A>G, NM_001385592.1:c.30A>G, NM_001385484.1:c.30A>G, NM_001385591.1:c.30A>G, NM_001385589.1:c.30A>G, NM_001385488.1:c.30A>G, NM_001385567.1:c.30A>G, NM_001385565.1:c.30A>G, NM_001385577.1:c.30A>G, NM_001385487.1:c.30A>G, NM_001385485.1:c.30A>G, NM_001385486.1:c.30A>G, NM_001385587.1:c.30A>G, NM_001385573.1:c.30A>G, NM_001385578.1:c.30A>G, NM_001385574.1:c.30A>G, NM_001385582.1:c.30A>G, NM_001385566.1:c.30A>G, NM_001385576.1:c.30A>G, NM_001385584.1:c.30A>G, NM_001385581.1:c.30A>G, NM_001385580.1:c.30A>G, NM_001025069.1:c.30A>G, NM_001025068.1:c.30A>G, XM_011533303.4:c.30A>G, XM_011533303.3:c.30A>G, XM_011533303.2:c.30A>G, XM_011533303.1:c.30A>G, XM_011533299.4:c.30A>G, XM_011533299.3:c.30A>G, XM_011533299.2:c.30A>G, XM_011533299.1:c.30A>G, XM_011533302.4:c.30A>G, XM_011533302.3:c.30A>G, XM_011533302.2:c.30A>G, XM_011533302.1:c.30A>G, XM_011533300.4:c.30A>G, XM_011533300.3:c.30A>G, XM_011533300.2:c.30A>G, XM_011533300.1:c.30A>G, XM_011533301.4:c.30A>G, XM_011533301.3:c.30A>G, XM_011533301.2:c.30A>G, XM_011533301.1:c.30A>G, XM_017005580.3:c.30A>G, XM_017005580.2:c.30A>G, XM_017005580.1:c.30A>G, XM_017005598.3:c.30A>G, XM_017005598.2:c.30A>G, XM_017005598.1:c.30A>G, XM_017005584.3:c.30A>G, XM_017005584.2:c.30A>G, XM_017005584.1:c.30A>G, XM_017005591.3:c.30A>G, XM_017005591.2:c.30A>G, XM_017005591.1:c.30A>G, XM_017005596.3:c.30A>G, XM_017005596.2:c.30A>G, XM_017005596.1:c.30A>G, XM_017005574.3:c.30A>G, XM_017005574.2:c.30A>G, XM_017005574.1:c.30A>G, XM_017005575.3:c.30A>G, XM_017005575.2:c.30A>G, XM_017005575.1:c.30A>G, XM_017005590.3:c.30A>G, XM_017005590.2:c.30A>G, XM_017005590.1:c.30A>G, XM_024453320.2:c.30A>G, XM_024453320.1:c.30A>G, XM_024453322.2:c.30A>G, XM_024453322.1:c.30A>G, XM_024453323.2:c.30A>G, XM_024453323.1:c.30A>G, NM_001385561.1:c.-854A>G, NM_001385555.1:c.-666A>G, NM_001385575.1:c.-854A>G, XM_047447338.1:c.30A>G, XM_047447339.1:c.30A>G, XM_047447337.1:c.30A>G, XM_047447340.1:c.30A>G

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