U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 1000

1.

rs1491583053 has merged into rs757008438 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CGCGCG>-,CG,CGCG,CGCGCGCG,CGCGCGCGCG,CGCGCGCGCGCG,CGCGCGCGCGCGCG,CGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCGCG [Show Flanks]
    Chromosome:
    9:106943055 (GRCh38)
    9:109705336 (GRCh37)
    Canonical SPDI:
    NC_000009.12:106943051:GCGCGCGCG:GCG,NC_000009.12:106943051:GCGCGCGCG:GCGCG,NC_000009.12:106943051:GCGCGCGCG:GCGCGCG,NC_000009.12:106943051:GCGCGCGCG:GCGCGCGCGCG,NC_000009.12:106943051:GCGCGCGCG:GCGCGCGCGCGCG,NC_000009.12:106943051:GCGCGCGCG:GCGCGCGCGCGCGCG,NC_000009.12:106943051:GCGCGCGCG:GCGCGCGCGCGCGCGCG,NC_000009.12:106943051:GCGCGCGCG:GCGCGCGCGCGCGCGCGCG,NC_000009.12:106943051:GCGCGCGCG:GCGCGCGCGCGCGCGCGCGCG,NC_000009.12:106943051:GCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCG,NC_000009.12:106943051:GCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCGCG
    Gene:
    ZNF462 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GCGCG=0./0 (ALFA)
    HGVS:
    NC_000009.12:g.106943053CG[1], NC_000009.12:g.106943053CG[2], NC_000009.12:g.106943053CG[3], NC_000009.12:g.106943053CG[5], NC_000009.12:g.106943053CG[6], NC_000009.12:g.106943053CG[7], NC_000009.12:g.106943053CG[8], NC_000009.12:g.106943053CG[9], NC_000009.12:g.106943053CG[10], NC_000009.12:g.106943053CG[11], NC_000009.12:g.106943053CG[12], NC_000009.11:g.109705334CG[1], NC_000009.11:g.109705334CG[2], NC_000009.11:g.109705334CG[3], NC_000009.11:g.109705334CG[5], NC_000009.11:g.109705334CG[6], NC_000009.11:g.109705334CG[7], NC_000009.11:g.109705334CG[8], NC_000009.11:g.109705334CG[9], NC_000009.11:g.109705334CG[10], NC_000009.11:g.109705334CG[11], NC_000009.11:g.109705334CG[12], NG_052913.1:g.84957CG[1], NG_052913.1:g.84957CG[2], NG_052913.1:g.84957CG[3], NG_052913.1:g.84957CG[5], NG_052913.1:g.84957CG[6], NG_052913.1:g.84957CG[7], NG_052913.1:g.84957CG[8], NG_052913.1:g.84957CG[9], NG_052913.1:g.84957CG[10], NG_052913.1:g.84957CG[11], NG_052913.1:g.84957CG[12]

    2.

    rs1491574358 has merged into rs1163695505 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      9:106908955 (GRCh38)
      9:109671236 (GRCh37)
      Canonical SPDI:
      NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106908941:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      ZNF462 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000009.12:g.106908955_106908980del, NC_000009.12:g.106908956_106908980del, NC_000009.12:g.106908957_106908980del, NC_000009.12:g.106908958_106908980del, NC_000009.12:g.106908959_106908980del, NC_000009.12:g.106908960_106908980del, NC_000009.12:g.106908962_106908980del, NC_000009.12:g.106908963_106908980del, NC_000009.12:g.106908964_106908980del, NC_000009.12:g.106908965_106908980del, NC_000009.12:g.106908966_106908980del, NC_000009.12:g.106908967_106908980del, NC_000009.12:g.106908968_106908980del, NC_000009.12:g.106908969_106908980del, NC_000009.12:g.106908970_106908980del, NC_000009.12:g.106908971_106908980del, NC_000009.12:g.106908972_106908980del, NC_000009.12:g.106908973_106908980del, NC_000009.12:g.106908974_106908980del, NC_000009.12:g.106908975_106908980del, NC_000009.12:g.106908976_106908980del, NC_000009.12:g.106908977_106908980del, NC_000009.12:g.106908978_106908980del, NC_000009.12:g.106908979_106908980del, NC_000009.12:g.106908980del, NC_000009.12:g.106908980dup, NC_000009.12:g.106908979_106908980dup, NC_000009.12:g.106908978_106908980dup, NC_000009.12:g.106908976_106908980dup, NC_000009.12:g.106908975_106908980dup, NC_000009.12:g.106908974_106908980dup, NC_000009.12:g.106908967_106908980dup, NC_000009.11:g.109671236_109671261del, NC_000009.11:g.109671237_109671261del, NC_000009.11:g.109671238_109671261del, NC_000009.11:g.109671239_109671261del, NC_000009.11:g.109671240_109671261del, NC_000009.11:g.109671241_109671261del, NC_000009.11:g.109671243_109671261del, NC_000009.11:g.109671244_109671261del, NC_000009.11:g.109671245_109671261del, NC_000009.11:g.109671246_109671261del, NC_000009.11:g.109671247_109671261del, NC_000009.11:g.109671248_109671261del, NC_000009.11:g.109671249_109671261del, NC_000009.11:g.109671250_109671261del, NC_000009.11:g.109671251_109671261del, NC_000009.11:g.109671252_109671261del, NC_000009.11:g.109671253_109671261del, NC_000009.11:g.109671254_109671261del, NC_000009.11:g.109671255_109671261del, NC_000009.11:g.109671256_109671261del, NC_000009.11:g.109671257_109671261del, NC_000009.11:g.109671258_109671261del, NC_000009.11:g.109671259_109671261del, NC_000009.11:g.109671260_109671261del, NC_000009.11:g.109671261del, NC_000009.11:g.109671261dup, NC_000009.11:g.109671260_109671261dup, NC_000009.11:g.109671259_109671261dup, NC_000009.11:g.109671257_109671261dup, NC_000009.11:g.109671256_109671261dup, NC_000009.11:g.109671255_109671261dup, NC_000009.11:g.109671248_109671261dup, NG_052913.1:g.50859_50884del, NG_052913.1:g.50860_50884del, NG_052913.1:g.50861_50884del, NG_052913.1:g.50862_50884del, NG_052913.1:g.50863_50884del, NG_052913.1:g.50864_50884del, NG_052913.1:g.50866_50884del, NG_052913.1:g.50867_50884del, NG_052913.1:g.50868_50884del, NG_052913.1:g.50869_50884del, NG_052913.1:g.50870_50884del, NG_052913.1:g.50871_50884del, NG_052913.1:g.50872_50884del, NG_052913.1:g.50873_50884del, NG_052913.1:g.50874_50884del, NG_052913.1:g.50875_50884del, NG_052913.1:g.50876_50884del, NG_052913.1:g.50877_50884del, NG_052913.1:g.50878_50884del, NG_052913.1:g.50879_50884del, NG_052913.1:g.50880_50884del, NG_052913.1:g.50881_50884del, NG_052913.1:g.50882_50884del, NG_052913.1:g.50883_50884del, NG_052913.1:g.50884del, NG_052913.1:g.50884dup, NG_052913.1:g.50883_50884dup, NG_052913.1:g.50882_50884dup, NG_052913.1:g.50880_50884dup, NG_052913.1:g.50879_50884dup, NG_052913.1:g.50878_50884dup, NG_052913.1:g.50871_50884dup

      3.

      rs1491568616 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        9:106932238 (GRCh38)
        9:109694519 (GRCh37)
        Canonical SPDI:
        NC_000009.12:106932237:AT:
        Gene:
        ZNF462 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.000071/1 (ALFA)
        -=0.000007/1 (GnomAD)
        -=0.000007/1 (GnomAD_exomes)
        -=0.000011/3 (TOPMED)
        HGVS:

        4.

        rs1491508473 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          9:106858740 (GRCh38)
          9:109621021 (GRCh37)
          Canonical SPDI:
          NC_000009.12:106858739:AT:
          Gene:
          ZNF462 (Varview), LOC105376204 (Varview)
          Functional Consequence:
          upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.00177/21 (ALFA)
          -=0.003241/397 (GnomAD)
          HGVS:

          5.

          rs1491504359 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->TTATT [Show Flanks]
            Chromosome:
            9:107001245 (GRCh38)
            9:109763527 (GRCh37)
            Canonical SPDI:
            NC_000009.12:107001245:TTTTATT:TTTTATTTTATT
            Gene:
            ZNF462 (Varview), LOC340512 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            TTTTATTTTATT=0./0 (ALFA)
            TTTTA=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1491481121 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->AC [Show Flanks]
              Chromosome:
              9:106943052 (GRCh38)
              9:109705334 (GRCh37)
              Canonical SPDI:
              NC_000009.12:106943052:C:CAC
              Gene:
              ZNF462 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              CAC=0./0 (ALFA)
              HGVS:

              7.

              rs1491412382 has merged into rs1011376719 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTCTCCCTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                9:106910375 (GRCh38)
                9:109672656 (GRCh37)
                Canonical SPDI:
                NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTCTCCCTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106910362:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                ZNF462 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTT=0./0 (ALFA)
                HGVS:
                NC_000009.12:g.106910375_106910386del, NC_000009.12:g.106910376_106910386del, NC_000009.12:g.106910378_106910386del, NC_000009.12:g.106910379_106910386del, NC_000009.12:g.106910380_106910386del, NC_000009.12:g.106910381_106910386del, NC_000009.12:g.106910382_106910386del, NC_000009.12:g.106910383_106910386del, NC_000009.12:g.106910385_106910386del, NC_000009.12:g.106910386del, NC_000009.12:g.106910386dup, NC_000009.12:g.106910385_106910386dup, NC_000009.12:g.106910384_106910386dup, NC_000009.12:g.106910383_106910386dup, NC_000009.12:g.106910382_106910386dup, NC_000009.12:g.106910381_106910386dup, NC_000009.12:g.106910380_106910386dup, NC_000009.12:g.106910379_106910386dup, NC_000009.12:g.106910378_106910386dup, NC_000009.12:g.106910377_106910386dup, NC_000009.12:g.106910376_106910386dup, NC_000009.12:g.106910373_106910386dup, NC_000009.12:g.106910363_106910386T[41]CTTTCTCCCTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.106910367_106910386dup, NC_000009.12:g.106910386_106910387insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.106910386_106910387insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.106910386_106910387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.106910386_106910387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.106910386_106910387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.109672656_109672667del, NC_000009.11:g.109672657_109672667del, NC_000009.11:g.109672659_109672667del, NC_000009.11:g.109672660_109672667del, NC_000009.11:g.109672661_109672667del, NC_000009.11:g.109672662_109672667del, NC_000009.11:g.109672663_109672667del, NC_000009.11:g.109672664_109672667del, NC_000009.11:g.109672666_109672667del, NC_000009.11:g.109672667del, NC_000009.11:g.109672667dup, NC_000009.11:g.109672666_109672667dup, NC_000009.11:g.109672665_109672667dup, NC_000009.11:g.109672664_109672667dup, NC_000009.11:g.109672663_109672667dup, NC_000009.11:g.109672662_109672667dup, NC_000009.11:g.109672661_109672667dup, NC_000009.11:g.109672660_109672667dup, NC_000009.11:g.109672659_109672667dup, NC_000009.11:g.109672658_109672667dup, NC_000009.11:g.109672657_109672667dup, NC_000009.11:g.109672654_109672667dup, NC_000009.11:g.109672644_109672667T[41]CTTTCTCCCTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.109672648_109672667dup, NC_000009.11:g.109672667_109672668insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.109672667_109672668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.109672667_109672668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.109672667_109672668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.109672667_109672668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052913.1:g.52279_52290del, NG_052913.1:g.52280_52290del, NG_052913.1:g.52282_52290del, NG_052913.1:g.52283_52290del, NG_052913.1:g.52284_52290del, NG_052913.1:g.52285_52290del, NG_052913.1:g.52286_52290del, NG_052913.1:g.52287_52290del, NG_052913.1:g.52289_52290del, NG_052913.1:g.52290del, NG_052913.1:g.52290dup, NG_052913.1:g.52289_52290dup, NG_052913.1:g.52288_52290dup, NG_052913.1:g.52287_52290dup, NG_052913.1:g.52286_52290dup, NG_052913.1:g.52285_52290dup, NG_052913.1:g.52284_52290dup, NG_052913.1:g.52283_52290dup, NG_052913.1:g.52282_52290dup, NG_052913.1:g.52281_52290dup, NG_052913.1:g.52280_52290dup, NG_052913.1:g.52277_52290dup, NG_052913.1:g.52267_52290T[41]CTTTCTCCCTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_052913.1:g.52271_52290dup, NG_052913.1:g.52290_52291insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052913.1:g.52290_52291insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052913.1:g.52290_52291insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052913.1:g.52290_52291insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052913.1:g.52290_52291insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                8.

                rs1491390118 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->A [Show Flanks]
                  Chromosome:
                  9:106900204 (GRCh38)
                  9:109662486 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:106900204::A
                  Gene:
                  ZNF462 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1491326209 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->C [Show Flanks]
                    Chromosome:
                    9:106986618 (GRCh38)
                    9:109748900 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:106986618::C
                    Gene:
                    ZNF462 (Varview), LOC340512 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000071/1 (TOMMO)
                    HGVS:

                    10.

                    rs1491309448 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      TA>- [Show Flanks]
                      Chromosome:
                      9:106991839 (GRCh38)
                      9:109754120 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:106991838:TA:
                      Gene:
                      ZNF462 (Varview), LOC340512 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0.001179/19 (ALFA)
                      -=0.012757/1509 (GnomAD)
                      -=0.029443/493 (TOMMO)
                      HGVS:

                      11.

                      rs1491276621 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        TA>- [Show Flanks]
                        Chromosome:
                        9:107012730 (GRCh38)
                        9:109775011 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:107012729:TA:
                        Gene:
                        ZNF462 (Varview), LOC340512 (Varview)
                        Functional Consequence:
                        intron_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:
                        NC_000009.12:g.107012730_107012731del, NC_000009.11:g.109775011_109775012del, NG_052913.1:g.154634_154635del, NM_021224.6:c.*1700_*1701del, NM_021224.5:c.*1700_*1701del, NM_001347997.2:c.*1700_*1701del, NM_001347997.1:c.*1700_*1701del, XM_006717215.5:c.*1700_*1701del, XM_006717215.4:c.*1700_*1701del, XM_006717215.1:c.*1700_*1701del, XM_006717216.5:c.*1700_*1701del, XM_006717216.4:c.*1700_*1701del, XM_006717216.1:c.*1700_*1701del, XM_006717211.5:c.*1700_*1701del, XM_006717211.4:c.*1700_*1701del, XM_006717211.1:c.*1700_*1701del, XM_006717209.5:c.*1700_*1701del, XM_006717209.4:c.*1700_*1701del, XM_006717209.1:c.*1700_*1701del, XM_006717212.5:c.*1700_*1701del, XM_006717212.4:c.*1700_*1701del, XM_006717212.1:c.*1700_*1701del, XM_017014997.3:c.*1700_*1701del, XM_017014997.2:c.*1700_*1701del, XM_017014996.3:c.*1700_*1701del, XM_017014996.2:c.*1700_*1701del, XM_017014998.3:c.*1700_*1701del, XM_017014998.2:c.*1700_*1701del, XM_047423671.1:c.*1700_*1701del, XM_047423678.1:c.*1700_*1701del, XM_047423666.1:c.*1700_*1701del, XM_047423674.1:c.*1700_*1701del, XM_047423661.1:c.*1700_*1701del, XM_047423667.1:c.*1700_*1701del, XM_047423663.1:c.*1700_*1701del, XM_024447629.1:c.*1700_*1701del, XM_047423664.1:c.*1700_*1701del, XM_047423675.1:c.*1700_*1701del, XM_047423662.1:c.*1700_*1701del, XM_047423677.1:c.*1700_*1701del, XM_047423670.1:c.*1700_*1701del, XM_047423672.1:c.*1700_*1701del, XM_047423665.1:c.*1700_*1701del, XM_047423673.1:c.*1700_*1701del, XM_047423668.1:c.*1700_*1701del, XM_047423669.1:c.*1700_*1701del, XM_047423676.1:c.*1700_*1701del, XM_047423680.1:c.*1700_*1701del, XM_047423685.1:c.*1700_*1701del, XM_047423679.1:c.*1700_*1701del, XM_047423682.1:c.*1700_*1701del, XM_047423681.1:c.*1700_*1701del, XM_047423683.1:c.*1700_*1701del, XM_047423684.1:c.*1700_*1701del

                        12.

                        rs1491263706 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->GTTTT [Show Flanks]
                          Chromosome:
                          9:106910363 (GRCh38)
                          9:109672645 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:106910363:TTTT:TTTTGTTTT
                          Gene:
                          ZNF462 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TTTTGTTTT=0.01298/154 (ALFA)
                          TTTTG=0.00005/4 (GnomAD)
                          HGVS:

                          13.

                          rs1491231002 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->AT [Show Flanks]
                            Chromosome:
                            9:106943060 (GRCh38)
                            9:109705342 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:106943060:T:TAT
                            Gene:
                            ZNF462 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TAT=0./0 (ALFA)
                            TA=0.000011/3 (TOPMED)
                            HGVS:

                            14.

                            rs1491223587 has merged into rs34740320 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              9:106858752 (GRCh38)
                              9:109621033 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:106858740:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:106858740:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:106858740:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:106858740:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:106858740:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:106858740:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:106858740:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:106858740:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:106858740:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              ZNF462 (Varview), LOC105376204 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTTTTTTTTT=0./0 (ALFA)
                              -=0.3573/1325 (TWINSUK)
                              -=0.377/1453 (ALSPAC)
                              HGVS:
                              NC_000009.12:g.106858752_106858755del, NC_000009.12:g.106858753_106858755del, NC_000009.12:g.106858754_106858755del, NC_000009.12:g.106858755del, NC_000009.12:g.106858755dup, NC_000009.12:g.106858754_106858755dup, NC_000009.12:g.106858753_106858755dup, NC_000009.12:g.106858748_106858755dup, NC_000009.12:g.106858744_106858755dup, NC_000009.11:g.109621033_109621036del, NC_000009.11:g.109621034_109621036del, NC_000009.11:g.109621035_109621036del, NC_000009.11:g.109621036del, NC_000009.11:g.109621036dup, NC_000009.11:g.109621035_109621036dup, NC_000009.11:g.109621034_109621036dup, NC_000009.11:g.109621029_109621036dup, NC_000009.11:g.109621025_109621036dup, NG_052913.1:g.656_659del, NG_052913.1:g.657_659del, NG_052913.1:g.658_659del, NG_052913.1:g.659del, NG_052913.1:g.659dup, NG_052913.1:g.658_659dup, NG_052913.1:g.657_659dup, NG_052913.1:g.652_659dup, NG_052913.1:g.648_659dup, XR_005646978.2:n.1777_1780del, XR_005646978.2:n.1778_1780del, XR_005646978.2:n.1779_1780del, XR_005646978.2:n.1780del, XR_005646978.2:n.1780dup, XR_005646978.2:n.1779_1780dup, XR_005646978.2:n.1778_1780dup, XR_005646978.2:n.1773_1780dup, XR_005646978.2:n.1769_1780dup, XR_005646978.1:n.1814_1817del, XR_005646978.1:n.1815_1817del, XR_005646978.1:n.1816_1817del, XR_005646978.1:n.1817del, XR_005646978.1:n.1817dup, XR_005646978.1:n.1816_1817dup, XR_005646978.1:n.1815_1817dup, XR_005646978.1:n.1810_1817dup, XR_005646978.1:n.1806_1817dup

                              15.

                              rs1491202057 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AA>- [Show Flanks]
                                Chromosome:
                                9:106986621 (GRCh38)
                                9:109748902 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:106986617:AAAAA:AAA
                                Gene:
                                ZNF462 (Varview), LOC340512 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAA=0.000071/1 (ALFA)
                                -=0.000023/6 (TOPMED)
                                -=0.000043/6 (GnomAD)
                                HGVS:

                                16.

                                rs1491145972 has merged into rs71384992 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GGGGGGGGGGGG>-,GG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG [Show Flanks]
                                  Chromosome:
                                  9:106899241 (GRCh38)
                                  9:109661522 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:106899239:GGGGGGGGGGGGG:G,NC_000009.12:106899239:GGGGGGGGGGGGG:GGG,NC_000009.12:106899239:GGGGGGGGGGGGG:GGGGGGGG,NC_000009.12:106899239:GGGGGGGGGGGGG:GGGGGGGGG,NC_000009.12:106899239:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000009.12:106899239:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000009.12:106899239:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000009.12:106899239:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000009.12:106899239:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000009.12:106899239:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000009.12:106899239:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000009.12:106899239:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000009.12:106899239:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000009.12:106899239:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG
                                  Gene:
                                  ZNF462 (Varview)
                                  Functional Consequence:
                                  intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GGGGGGGG=0./0 (ALFA)
                                  -=0.2478/955 (ALSPAC)
                                  HGVS:
                                  NC_000009.12:g.106899241_106899252del, NC_000009.12:g.106899243_106899252del, NC_000009.12:g.106899248_106899252del, NC_000009.12:g.106899249_106899252del, NC_000009.12:g.106899250_106899252del, NC_000009.12:g.106899251_106899252del, NC_000009.12:g.106899252del, NC_000009.12:g.106899252dup, NC_000009.12:g.106899251_106899252dup, NC_000009.12:g.106899250_106899252dup, NC_000009.12:g.106899249_106899252dup, NC_000009.12:g.106899248_106899252dup, NC_000009.12:g.106899246_106899252dup, NC_000009.12:g.106899244_106899252dup, NC_000009.11:g.109661522_109661533del, NC_000009.11:g.109661524_109661533del, NC_000009.11:g.109661529_109661533del, NC_000009.11:g.109661530_109661533del, NC_000009.11:g.109661531_109661533del, NC_000009.11:g.109661532_109661533del, NC_000009.11:g.109661533del, NC_000009.11:g.109661533dup, NC_000009.11:g.109661532_109661533dup, NC_000009.11:g.109661531_109661533dup, NC_000009.11:g.109661530_109661533dup, NC_000009.11:g.109661529_109661533dup, NC_000009.11:g.109661527_109661533dup, NC_000009.11:g.109661525_109661533dup, NG_052913.1:g.41145_41156del, NG_052913.1:g.41147_41156del, NG_052913.1:g.41152_41156del, NG_052913.1:g.41153_41156del, NG_052913.1:g.41154_41156del, NG_052913.1:g.41155_41156del, NG_052913.1:g.41156del, NG_052913.1:g.41156dup, NG_052913.1:g.41155_41156dup, NG_052913.1:g.41154_41156dup, NG_052913.1:g.41153_41156dup, NG_052913.1:g.41152_41156dup, NG_052913.1:g.41150_41156dup, NG_052913.1:g.41148_41156dup, XM_017014997.3:c.-7233_-7222del, XM_017014997.3:c.-7231_-7222del, XM_017014997.3:c.-7226_-7222del, XM_017014997.3:c.-7225_-7222del, XM_017014997.3:c.-7224_-7222del, XM_017014997.3:c.-7223_-7222del, XM_017014997.3:c.-7222del, XM_017014997.3:c.-7222dup, XM_017014997.3:c.-7223_-7222dup, XM_017014997.3:c.-7224_-7222dup, XM_017014997.3:c.-7225_-7222dup, XM_017014997.3:c.-7226_-7222dup, XM_017014997.3:c.-7228_-7222dup, XM_017014997.3:c.-7230_-7222dup, XM_047423671.1:c.-7233_-7222del, XM_047423671.1:c.-7231_-7222del, XM_047423671.1:c.-7226_-7222del, XM_047423671.1:c.-7225_-7222del, XM_047423671.1:c.-7224_-7222del, XM_047423671.1:c.-7223_-7222del, XM_047423671.1:c.-7222del, XM_047423671.1:c.-7222dup, XM_047423671.1:c.-7223_-7222dup, XM_047423671.1:c.-7224_-7222dup, XM_047423671.1:c.-7225_-7222dup, XM_047423671.1:c.-7226_-7222dup, XM_047423671.1:c.-7228_-7222dup, XM_047423671.1:c.-7230_-7222dup, XM_047423678.1:c.-7233_-7222del, XM_047423678.1:c.-7231_-7222del, XM_047423678.1:c.-7226_-7222del, XM_047423678.1:c.-7225_-7222del, XM_047423678.1:c.-7224_-7222del, XM_047423678.1:c.-7223_-7222del, XM_047423678.1:c.-7222del, XM_047423678.1:c.-7222dup, XM_047423678.1:c.-7223_-7222dup, XM_047423678.1:c.-7224_-7222dup, XM_047423678.1:c.-7225_-7222dup, XM_047423678.1:c.-7226_-7222dup, XM_047423678.1:c.-7228_-7222dup, XM_047423678.1:c.-7230_-7222dup

                                  17.

                                  rs1491133644 has merged into rs796290122 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CCCCC>-,CCC,CCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
                                    Chromosome:
                                    9:106879339 (GRCh38)
                                    9:109641620 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:106879332:CCCCCCCCCCC:CCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000009.12:106879332:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
                                    Gene:
                                    ZNF462 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    CCCCCCCCC=0./0 (ALFA)
                                    -=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000009.12:g.106879339_106879343del, NC_000009.12:g.106879342_106879343del, NC_000009.12:g.106879343del, NC_000009.12:g.106879343dup, NC_000009.12:g.106879342_106879343dup, NC_000009.12:g.106879341_106879343dup, NC_000009.12:g.106879340_106879343dup, NC_000009.12:g.106879339_106879343dup, NC_000009.12:g.106879338_106879343dup, NC_000009.12:g.106879337_106879343dup, NC_000009.12:g.106879336_106879343dup, NC_000009.12:g.106879335_106879343dup, NC_000009.12:g.106879334_106879343dup, NC_000009.12:g.106879333_106879343dup, NC_000009.12:g.106879343_106879344insCCCCCCCCCCCC, NC_000009.12:g.106879343_106879344insCCCCCCCCCCCCC, NC_000009.12:g.106879343_106879344insCCCCCCCCCCCCCC, NC_000009.12:g.106879343_106879344insCCCCCCCCCCCCCCC, NC_000009.12:g.106879343_106879344insCCCCCCCCCCCCCCCC, NC_000009.12:g.106879343_106879344insCCCCCCCCCCCCCCCCC, NC_000009.12:g.106879343_106879344insCCCCCCCCCCCCCCCCCC, NC_000009.12:g.106879343_106879344insCCCCCCCCCCCCCCCCCCC, NC_000009.12:g.106879343_106879344insCCCCCCCCCCCCCCCCCCCCCCC, NC_000009.11:g.109641620_109641624del, NC_000009.11:g.109641623_109641624del, NC_000009.11:g.109641624del, NC_000009.11:g.109641624dup, NC_000009.11:g.109641623_109641624dup, NC_000009.11:g.109641622_109641624dup, NC_000009.11:g.109641621_109641624dup, NC_000009.11:g.109641620_109641624dup, NC_000009.11:g.109641619_109641624dup, NC_000009.11:g.109641618_109641624dup, NC_000009.11:g.109641617_109641624dup, NC_000009.11:g.109641616_109641624dup, NC_000009.11:g.109641615_109641624dup, NC_000009.11:g.109641614_109641624dup, NC_000009.11:g.109641624_109641625insCCCCCCCCCCCC, NC_000009.11:g.109641624_109641625insCCCCCCCCCCCCC, NC_000009.11:g.109641624_109641625insCCCCCCCCCCCCCC, NC_000009.11:g.109641624_109641625insCCCCCCCCCCCCCCC, NC_000009.11:g.109641624_109641625insCCCCCCCCCCCCCCCC, NC_000009.11:g.109641624_109641625insCCCCCCCCCCCCCCCCC, NC_000009.11:g.109641624_109641625insCCCCCCCCCCCCCCCCCC, NC_000009.11:g.109641624_109641625insCCCCCCCCCCCCCCCCCCC, NC_000009.11:g.109641624_109641625insCCCCCCCCCCCCCCCCCCCCCCC, NG_052913.1:g.21243_21247del, NG_052913.1:g.21246_21247del, NG_052913.1:g.21247del, NG_052913.1:g.21247dup, NG_052913.1:g.21246_21247dup, NG_052913.1:g.21245_21247dup, NG_052913.1:g.21244_21247dup, NG_052913.1:g.21243_21247dup, NG_052913.1:g.21242_21247dup, NG_052913.1:g.21241_21247dup, NG_052913.1:g.21240_21247dup, NG_052913.1:g.21239_21247dup, NG_052913.1:g.21238_21247dup, NG_052913.1:g.21237_21247dup, NG_052913.1:g.21247_21248insCCCCCCCCCCCC, NG_052913.1:g.21247_21248insCCCCCCCCCCCCC, NG_052913.1:g.21247_21248insCCCCCCCCCCCCCC, NG_052913.1:g.21247_21248insCCCCCCCCCCCCCCC, NG_052913.1:g.21247_21248insCCCCCCCCCCCCCCCC, NG_052913.1:g.21247_21248insCCCCCCCCCCCCCCCCC, NG_052913.1:g.21247_21248insCCCCCCCCCCCCCCCCCC, NG_052913.1:g.21247_21248insCCCCCCCCCCCCCCCCCCC, NG_052913.1:g.21247_21248insCCCCCCCCCCCCCCCCCCCCCCC, XM_017014997.3:c.-27135_-27131del, XM_017014997.3:c.-27132_-27131del, XM_017014997.3:c.-27131del, XM_017014997.3:c.-27131dup, XM_017014997.3:c.-27132_-27131dup, XM_017014997.3:c.-27133_-27131dup, XM_017014997.3:c.-27134_-27131dup, XM_017014997.3:c.-27135_-27131dup, XM_017014997.3:c.-27136_-27131dup, XM_017014997.3:c.-27137_-27131dup, XM_017014997.3:c.-27138_-27131dup, XM_017014997.3:c.-27139_-27131dup, XM_017014997.3:c.-27140_-27131dup, XM_017014997.3:c.-27141_-27131dup, XM_017014997.3:c.-27131_-27130insCCCCCCCCCCCC, XM_017014997.3:c.-27131_-27130insCCCCCCCCCCCCC, XM_017014997.3:c.-27131_-27130insCCCCCCCCCCCCCC, XM_017014997.3:c.-27131_-27130insCCCCCCCCCCCCCCC, XM_017014997.3:c.-27131_-27130insCCCCCCCCCCCCCCCC, XM_017014997.3:c.-27131_-27130insCCCCCCCCCCCCCCCCC, XM_017014997.3:c.-27131_-27130insCCCCCCCCCCCCCCCCCC, XM_017014997.3:c.-27131_-27130insCCCCCCCCCCCCCCCCCCC, XM_017014997.3:c.-27131_-27130insCCCCCCCCCCCCCCCCCCCCCCC, XM_047423671.1:c.-27135_-27131del, XM_047423671.1:c.-27132_-27131del, XM_047423671.1:c.-27131del, XM_047423671.1:c.-27131dup, XM_047423671.1:c.-27132_-27131dup, XM_047423671.1:c.-27133_-27131dup, XM_047423671.1:c.-27134_-27131dup, XM_047423671.1:c.-27135_-27131dup, XM_047423671.1:c.-27136_-27131dup, XM_047423671.1:c.-27137_-27131dup, XM_047423671.1:c.-27138_-27131dup, XM_047423671.1:c.-27139_-27131dup, XM_047423671.1:c.-27140_-27131dup, XM_047423671.1:c.-27141_-27131dup, XM_047423671.1:c.-27131_-27130insCCCCCCCCCCCC, XM_047423671.1:c.-27131_-27130insCCCCCCCCCCCCC, XM_047423671.1:c.-27131_-27130insCCCCCCCCCCCCCC, XM_047423671.1:c.-27131_-27130insCCCCCCCCCCCCCCC, XM_047423671.1:c.-27131_-27130insCCCCCCCCCCCCCCCC, XM_047423671.1:c.-27131_-27130insCCCCCCCCCCCCCCCCC, XM_047423671.1:c.-27131_-27130insCCCCCCCCCCCCCCCCCC, XM_047423671.1:c.-27131_-27130insCCCCCCCCCCCCCCCCCCC, XM_047423671.1:c.-27131_-27130insCCCCCCCCCCCCCCCCCCCCCCC, XM_047423678.1:c.-27135_-27131del, XM_047423678.1:c.-27132_-27131del, XM_047423678.1:c.-27131del, XM_047423678.1:c.-27131dup, XM_047423678.1:c.-27132_-27131dup, XM_047423678.1:c.-27133_-27131dup, XM_047423678.1:c.-27134_-27131dup, XM_047423678.1:c.-27135_-27131dup, XM_047423678.1:c.-27136_-27131dup, XM_047423678.1:c.-27137_-27131dup, XM_047423678.1:c.-27138_-27131dup, XM_047423678.1:c.-27139_-27131dup, XM_047423678.1:c.-27140_-27131dup, XM_047423678.1:c.-27141_-27131dup, XM_047423678.1:c.-27131_-27130insCCCCCCCCCCCC, XM_047423678.1:c.-27131_-27130insCCCCCCCCCCCCC, XM_047423678.1:c.-27131_-27130insCCCCCCCCCCCCCC, XM_047423678.1:c.-27131_-27130insCCCCCCCCCCCCCCC, XM_047423678.1:c.-27131_-27130insCCCCCCCCCCCCCCCC, XM_047423678.1:c.-27131_-27130insCCCCCCCCCCCCCCCCC, XM_047423678.1:c.-27131_-27130insCCCCCCCCCCCCCCCCCC, XM_047423678.1:c.-27131_-27130insCCCCCCCCCCCCCCCCCCC, XM_047423678.1:c.-27131_-27130insCCCCCCCCCCCCCCCCCCCCCCC

                                    18.

                                    rs1491101976 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AG>- [Show Flanks]
                                      Chromosome:
                                      9:106885919 (GRCh38)
                                      9:109648200 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:106885912:AGAGAGAG:AGAGAG
                                      Gene:
                                      ZNF462 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AGAGAG=0.001068/15 (ALFA)
                                      -=0.000809/3 (TWINSUK)
                                      -=0.000812/215 (TOPMED)
                                      -=0.000813/114 (GnomAD)
                                      -=0.001557/6 (ALSPAC)
                                      -=0.001667/1 (NorthernSweden)
                                      -=0.002004/2 (GoNL)
                                      -=0.130435/3 (1000Genomes)
                                      HGVS:

                                      19.

                                      rs1491101142 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AG>- [Show Flanks]
                                        Chromosome:
                                        9:106863014 (GRCh38)
                                        9:109625295 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:106863011:AGAG:AG
                                        Gene:
                                        ZNF462 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AGAG=0./0 (ALFA)
                                        -=0.000011/3 (TOPMED)
                                        -=0.000035/1 (TOMMO)
                                        HGVS:

                                        20.

                                        rs1491045058 has merged into rs1214871987 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AT>-,ATAT [Show Flanks]
                                          Chromosome:
                                          9:106900254 (GRCh38)
                                          9:109662535 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:106900252:TAT:T,NC_000009.12:106900252:TAT:TATAT
                                          Gene:
                                          ZNF462 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TATAT=0./0 (ALFA)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...