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Items: 1 to 20 of 29256

1.

rs1491588705 has merged into rs3832965 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
    Chromosome:
    14:76446379 (GRCh38)
    14:76912722 (GRCh37)
    Canonical SPDI:
    NC_000014.9:76446369:TTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:76446369:TTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:76446369:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:76446369:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:76446369:TTTTTTTTTTTT:TTTTTTTTTTTTTT
    Gene:
    ESRRB (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTT=0./0 (ALFA)
    -=0.1873/938 (1000Genomes)
    HGVS:

    2.

    rs1491550421 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      14:76467500 (GRCh38)
      14:76933843 (GRCh37)
      Canonical SPDI:
      NC_000014.9:76467499:CA:
      Gene:
      ESRRB (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00008/1 (ALFA)
      HGVS:

      3.

      rs1491507471 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        A>-,AA [Show Flanks]
        Chromosome:
        14:76495563 (GRCh38)
        14:76961906 (GRCh37)
        Canonical SPDI:
        NC_000014.9:76495562:AA:A,NC_000014.9:76495562:AA:AAA
        Gene:
        ESRRB (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        AAA=0./0 (ALFA)
        HGVS:

        4.

        rs1491488115 has merged into rs60824171 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CACACACACACACACACACACACACA>-,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
          Chromosome:
          14:76456053 (GRCh38)
          14:76922396 (GRCh37)
          Canonical SPDI:
          NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76456038:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
          Gene:
          ESRRB (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CACACACACACACA=0./0 (ALFA)
          -=0.1679/647 (ALSPAC)
          HGVS:
          NC_000014.9:g.76456039CA[7], NC_000014.9:g.76456039CA[10], NC_000014.9:g.76456039CA[11], NC_000014.9:g.76456039CA[12], NC_000014.9:g.76456039CA[13], NC_000014.9:g.76456039CA[14], NC_000014.9:g.76456039CA[15], NC_000014.9:g.76456039CA[16], NC_000014.9:g.76456039CA[17], NC_000014.9:g.76456039CA[18], NC_000014.9:g.76456039CA[19], NC_000014.9:g.76456039CA[21], NC_000014.9:g.76456039CA[22], NC_000014.9:g.76456039CA[23], NC_000014.9:g.76456039CA[24], NC_000014.9:g.76456039CA[25], NC_000014.9:g.76456039CA[26], NC_000014.9:g.76456039CA[27], NC_000014.9:g.76456039CA[28], NC_000014.9:g.76456039CA[29], NC_000014.9:g.76456039CA[30], NC_000014.9:g.76456039CA[32], NC_000014.8:g.76922382CA[7], NC_000014.8:g.76922382CA[10], NC_000014.8:g.76922382CA[11], NC_000014.8:g.76922382CA[12], NC_000014.8:g.76922382CA[13], NC_000014.8:g.76922382CA[14], NC_000014.8:g.76922382CA[15], NC_000014.8:g.76922382CA[16], NC_000014.8:g.76922382CA[17], NC_000014.8:g.76922382CA[18], NC_000014.8:g.76922382CA[19], NC_000014.8:g.76922382CA[21], NC_000014.8:g.76922382CA[22], NC_000014.8:g.76922382CA[23], NC_000014.8:g.76922382CA[24], NC_000014.8:g.76922382CA[25], NC_000014.8:g.76922382CA[26], NC_000014.8:g.76922382CA[27], NC_000014.8:g.76922382CA[28], NC_000014.8:g.76922382CA[29], NC_000014.8:g.76922382CA[30], NC_000014.8:g.76922382CA[32], NG_012278.2:g.89693CA[7], NG_012278.2:g.89693CA[10], NG_012278.2:g.89693CA[11], NG_012278.2:g.89693CA[12], NG_012278.2:g.89693CA[13], NG_012278.2:g.89693CA[14], NG_012278.2:g.89693CA[15], NG_012278.2:g.89693CA[16], NG_012278.2:g.89693CA[17], NG_012278.2:g.89693CA[18], NG_012278.2:g.89693CA[19], NG_012278.2:g.89693CA[21], NG_012278.2:g.89693CA[22], NG_012278.2:g.89693CA[23], NG_012278.2:g.89693CA[24], NG_012278.2:g.89693CA[25], NG_012278.2:g.89693CA[26], NG_012278.2:g.89693CA[27], NG_012278.2:g.89693CA[28], NG_012278.2:g.89693CA[29], NG_012278.2:g.89693CA[30], NG_012278.2:g.89693CA[32]

          5.

          rs1491488086 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->A [Show Flanks]
            Chromosome:
            14:76486558 (GRCh38)
            14:76952902 (GRCh37)
            Canonical SPDI:
            NC_000014.9:76486558::A
            Gene:
            ESRRB (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:

            6.

            rs1491479612 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              14:76386454 (GRCh38)
              14:76852797 (GRCh37)
              Canonical SPDI:
              NC_000014.9:76386453:AT:
              Gene:
              ESRRB (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.000169/2 (ALFA)
              -=0.000064/7 (GnomAD)
              HGVS:

              7.

              rs1491477066 has merged into rs35905714 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
                Chromosome:
                14:76433977 (GRCh38)
                14:76900320 (GRCh37)
                Canonical SPDI:
                NC_000014.9:76433962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:76433962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:76433962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:76433962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:76433962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:76433962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:76433962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76433962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76433962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76433962:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                ESRRB (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTTT=0./0 (ALFA)
                HGVS:
                NC_000014.9:g.76433977_76433980del, NC_000014.9:g.76433978_76433980del, NC_000014.9:g.76433979_76433980del, NC_000014.9:g.76433980del, NC_000014.9:g.76433980dup, NC_000014.9:g.76433979_76433980dup, NC_000014.9:g.76433978_76433980dup, NC_000014.9:g.76433977_76433980dup, NC_000014.9:g.76433974_76433980dup, NC_000014.9:g.76433973_76433980dup, NC_000014.8:g.76900320_76900323del, NC_000014.8:g.76900321_76900323del, NC_000014.8:g.76900322_76900323del, NC_000014.8:g.76900323del, NC_000014.8:g.76900323dup, NC_000014.8:g.76900322_76900323dup, NC_000014.8:g.76900321_76900323dup, NC_000014.8:g.76900320_76900323dup, NC_000014.8:g.76900317_76900323dup, NC_000014.8:g.76900316_76900323dup, NG_012278.2:g.67631_67634del, NG_012278.2:g.67632_67634del, NG_012278.2:g.67633_67634del, NG_012278.2:g.67634del, NG_012278.2:g.67634dup, NG_012278.2:g.67633_67634dup, NG_012278.2:g.67632_67634dup, NG_012278.2:g.67631_67634dup, NG_012278.2:g.67628_67634dup, NG_012278.2:g.67627_67634dup

                8.

                rs1491466113 has merged into rs58562150 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CACACACACACACACACACACACACACACACA>-,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
                  Chromosome:
                  14:76458439 (GRCh38)
                  14:76924782 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:76458425:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
                  Gene:
                  ESRRB (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ACACACACACACACACACA=0./0 (ALFA)
                  HGVS:
                  NC_000014.9:g.76458427CA[6], NC_000014.9:g.76458427CA[9], NC_000014.9:g.76458427CA[10], NC_000014.9:g.76458427CA[11], NC_000014.9:g.76458427CA[12], NC_000014.9:g.76458427CA[13], NC_000014.9:g.76458427CA[14], NC_000014.9:g.76458427CA[15], NC_000014.9:g.76458427CA[16], NC_000014.9:g.76458427CA[17], NC_000014.9:g.76458427CA[18], NC_000014.9:g.76458427CA[19], NC_000014.9:g.76458427CA[20], NC_000014.9:g.76458427CA[21], NC_000014.9:g.76458427CA[23], NC_000014.9:g.76458427CA[24], NC_000014.9:g.76458427CA[25], NC_000014.9:g.76458427CA[26], NC_000014.9:g.76458427CA[27], NC_000014.9:g.76458427CA[28], NC_000014.9:g.76458427CA[30], NC_000014.8:g.76924770CA[6], NC_000014.8:g.76924770CA[9], NC_000014.8:g.76924770CA[10], NC_000014.8:g.76924770CA[11], NC_000014.8:g.76924770CA[12], NC_000014.8:g.76924770CA[13], NC_000014.8:g.76924770CA[14], NC_000014.8:g.76924770CA[15], NC_000014.8:g.76924770CA[16], NC_000014.8:g.76924770CA[17], NC_000014.8:g.76924770CA[18], NC_000014.8:g.76924770CA[19], NC_000014.8:g.76924770CA[20], NC_000014.8:g.76924770CA[21], NC_000014.8:g.76924770CA[23], NC_000014.8:g.76924770CA[24], NC_000014.8:g.76924770CA[25], NC_000014.8:g.76924770CA[26], NC_000014.8:g.76924770CA[27], NC_000014.8:g.76924770CA[28], NC_000014.8:g.76924770CA[30], NG_012278.2:g.92081CA[6], NG_012278.2:g.92081CA[9], NG_012278.2:g.92081CA[10], NG_012278.2:g.92081CA[11], NG_012278.2:g.92081CA[12], NG_012278.2:g.92081CA[13], NG_012278.2:g.92081CA[14], NG_012278.2:g.92081CA[15], NG_012278.2:g.92081CA[16], NG_012278.2:g.92081CA[17], NG_012278.2:g.92081CA[18], NG_012278.2:g.92081CA[19], NG_012278.2:g.92081CA[20], NG_012278.2:g.92081CA[21], NG_012278.2:g.92081CA[23], NG_012278.2:g.92081CA[24], NG_012278.2:g.92081CA[25], NG_012278.2:g.92081CA[26], NG_012278.2:g.92081CA[27], NG_012278.2:g.92081CA[28], NG_012278.2:g.92081CA[30]

                  9.

                  rs1491461619 has merged into rs79764142 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    14:76449771 (GRCh38)
                    14:76916114 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76449761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    ESRRB (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTT=0./0 (ALFA)
                    HGVS:
                    NC_000014.9:g.76449771_76449778del, NC_000014.9:g.76449772_76449778del, NC_000014.9:g.76449773_76449778del, NC_000014.9:g.76449775_76449778del, NC_000014.9:g.76449776_76449778del, NC_000014.9:g.76449777_76449778del, NC_000014.9:g.76449778del, NC_000014.9:g.76449778dup, NC_000014.9:g.76449777_76449778dup, NC_000014.9:g.76449776_76449778dup, NC_000014.9:g.76449775_76449778dup, NC_000014.9:g.76449773_76449778dup, NC_000014.9:g.76449770_76449778dup, NC_000014.9:g.76449768_76449778dup, NC_000014.9:g.76449766_76449778dup, NC_000014.9:g.76449764_76449778dup, NC_000014.8:g.76916114_76916121del, NC_000014.8:g.76916115_76916121del, NC_000014.8:g.76916116_76916121del, NC_000014.8:g.76916118_76916121del, NC_000014.8:g.76916119_76916121del, NC_000014.8:g.76916120_76916121del, NC_000014.8:g.76916121del, NC_000014.8:g.76916121dup, NC_000014.8:g.76916120_76916121dup, NC_000014.8:g.76916119_76916121dup, NC_000014.8:g.76916118_76916121dup, NC_000014.8:g.76916116_76916121dup, NC_000014.8:g.76916113_76916121dup, NC_000014.8:g.76916111_76916121dup, NC_000014.8:g.76916109_76916121dup, NC_000014.8:g.76916107_76916121dup, NG_012278.2:g.83425_83432del, NG_012278.2:g.83426_83432del, NG_012278.2:g.83427_83432del, NG_012278.2:g.83429_83432del, NG_012278.2:g.83430_83432del, NG_012278.2:g.83431_83432del, NG_012278.2:g.83432del, NG_012278.2:g.83432dup, NG_012278.2:g.83431_83432dup, NG_012278.2:g.83430_83432dup, NG_012278.2:g.83429_83432dup, NG_012278.2:g.83427_83432dup, NG_012278.2:g.83424_83432dup, NG_012278.2:g.83422_83432dup, NG_012278.2:g.83420_83432dup, NG_012278.2:g.83418_83432dup

                    10.

                    rs1491459747 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      14:76408591 (GRCh38)
                      14:76874934 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:76408590:CA:
                      Gene:
                      ESRRB (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0.00008/1 (ALFA)
                      -=0.0019/49 (TOMMO)
                      HGVS:

                      11.

                      rs1491444486 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AA>- [Show Flanks]
                        Chromosome:
                        14:76485661 (GRCh38)
                        14:76952004 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:76485659:AAA:A
                        Gene:
                        ESRRB (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000169/2 (ALFA)
                        -=0.000177/3 (TOMMO)
                        -=0.000317/43 (GnomAD)
                        HGVS:

                        12.

                        rs1491416551 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          AT>- [Show Flanks]
                          Chromosome:
                          14:76433962 (GRCh38)
                          14:76900305 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:76433961:AT:
                          Gene:
                          ESRRB (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0.00008/1 (ALFA)
                          HGVS:

                          13.

                          rs1491406862 has merged into rs529243634 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                            Chromosome:
                            14:76432684 (GRCh38)
                            14:76899027 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                            Gene:
                            ESRRB (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTTTT=0./0 (ALFA)
                            -=0.0242/121 (1000Genomes)
                            HGVS:
                            NC_000014.9:g.76432684_76432691del, NC_000014.9:g.76432685_76432691del, NC_000014.9:g.76432686_76432691del, NC_000014.9:g.76432687_76432691del, NC_000014.9:g.76432688_76432691del, NC_000014.9:g.76432689_76432691del, NC_000014.9:g.76432690_76432691del, NC_000014.9:g.76432691del, NC_000014.9:g.76432691dup, NC_000014.9:g.76432690_76432691dup, NC_000014.9:g.76432689_76432691dup, NC_000014.9:g.76432688_76432691dup, NC_000014.9:g.76432687_76432691dup, NC_000014.9:g.76432686_76432691dup, NC_000014.9:g.76432685_76432691dup, NC_000014.9:g.76432683_76432691dup, NC_000014.9:g.76432682_76432691dup, NC_000014.9:g.76432672_76432691dup, NC_000014.8:g.76899027_76899034del, NC_000014.8:g.76899028_76899034del, NC_000014.8:g.76899029_76899034del, NC_000014.8:g.76899030_76899034del, NC_000014.8:g.76899031_76899034del, NC_000014.8:g.76899032_76899034del, NC_000014.8:g.76899033_76899034del, NC_000014.8:g.76899034del, NC_000014.8:g.76899034dup, NC_000014.8:g.76899033_76899034dup, NC_000014.8:g.76899032_76899034dup, NC_000014.8:g.76899031_76899034dup, NC_000014.8:g.76899030_76899034dup, NC_000014.8:g.76899029_76899034dup, NC_000014.8:g.76899028_76899034dup, NC_000014.8:g.76899026_76899034dup, NC_000014.8:g.76899025_76899034dup, NC_000014.8:g.76899015_76899034dup, NG_012278.2:g.66338_66345del, NG_012278.2:g.66339_66345del, NG_012278.2:g.66340_66345del, NG_012278.2:g.66341_66345del, NG_012278.2:g.66342_66345del, NG_012278.2:g.66343_66345del, NG_012278.2:g.66344_66345del, NG_012278.2:g.66345del, NG_012278.2:g.66345dup, NG_012278.2:g.66344_66345dup, NG_012278.2:g.66343_66345dup, NG_012278.2:g.66342_66345dup, NG_012278.2:g.66341_66345dup, NG_012278.2:g.66340_66345dup, NG_012278.2:g.66339_66345dup, NG_012278.2:g.66337_66345dup, NG_012278.2:g.66336_66345dup, NG_012278.2:g.66326_66345dup

                            14.

                            rs1491405569 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              GT>- [Show Flanks]
                              Chromosome:
                              14:76446369 (GRCh38)
                              14:76912712 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:76446368:GT:
                              Gene:
                              ESRRB (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              -=0.001265/15 (ALFA)
                              -=0.002156/252 (GnomAD)
                              HGVS:

                              15.

                              rs1491392383 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                14:76453598 (GRCh38)
                                14:76919942 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:76453598::C
                                Gene:
                                ESRRB (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:

                                16.

                                rs1491391789 has merged into rs397853103 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  14:76423152 (GRCh38)
                                  14:76889495 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:76423142:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:76423142:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:76423142:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:76423142:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:76423142:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:76423142:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:76423142:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:76423142:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76423142:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76423142:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76423142:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76423142:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76423142:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76423142:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  ESRRB (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTTTTTT=0./0 (ALFA)
                                  -=0.1858/716 (ALSPAC)
                                  -=0.3668/1837 (1000Genomes)
                                  HGVS:
                                  NC_000014.9:g.76423152_76423163del, NC_000014.9:g.76423158_76423163del, NC_000014.9:g.76423159_76423163del, NC_000014.9:g.76423160_76423163del, NC_000014.9:g.76423161_76423163del, NC_000014.9:g.76423162_76423163del, NC_000014.9:g.76423163del, NC_000014.9:g.76423163dup, NC_000014.9:g.76423162_76423163dup, NC_000014.9:g.76423161_76423163dup, NC_000014.9:g.76423160_76423163dup, NC_000014.9:g.76423159_76423163dup, NC_000014.9:g.76423158_76423163dup, NC_000014.9:g.76423147_76423163dup, NC_000014.8:g.76889495_76889506del, NC_000014.8:g.76889501_76889506del, NC_000014.8:g.76889502_76889506del, NC_000014.8:g.76889503_76889506del, NC_000014.8:g.76889504_76889506del, NC_000014.8:g.76889505_76889506del, NC_000014.8:g.76889506del, NC_000014.8:g.76889506dup, NC_000014.8:g.76889505_76889506dup, NC_000014.8:g.76889504_76889506dup, NC_000014.8:g.76889503_76889506dup, NC_000014.8:g.76889502_76889506dup, NC_000014.8:g.76889501_76889506dup, NC_000014.8:g.76889490_76889506dup, NG_012278.2:g.56806_56817del, NG_012278.2:g.56812_56817del, NG_012278.2:g.56813_56817del, NG_012278.2:g.56814_56817del, NG_012278.2:g.56815_56817del, NG_012278.2:g.56816_56817del, NG_012278.2:g.56817del, NG_012278.2:g.56817dup, NG_012278.2:g.56816_56817dup, NG_012278.2:g.56815_56817dup, NG_012278.2:g.56814_56817dup, NG_012278.2:g.56813_56817dup, NG_012278.2:g.56812_56817dup, NG_012278.2:g.56801_56817dup

                                  17.

                                  rs1491338203 has merged into rs35281292 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    14:76495555 (GRCh38)
                                    14:76961898 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76495543:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    ESRRB (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTTTT=0./0 (ALFA)
                                    -=0.3281/1643 (1000Genomes)
                                    HGVS:
                                    NC_000014.9:g.76495555_76495562del, NC_000014.9:g.76495557_76495562del, NC_000014.9:g.76495559_76495562del, NC_000014.9:g.76495560_76495562del, NC_000014.9:g.76495561_76495562del, NC_000014.9:g.76495562del, NC_000014.9:g.76495562dup, NC_000014.9:g.76495561_76495562dup, NC_000014.9:g.76495560_76495562dup, NC_000014.9:g.76495559_76495562dup, NC_000014.9:g.76495553_76495562dup, NC_000014.9:g.76495549_76495562dup, NC_000014.8:g.76961898_76961905del, NC_000014.8:g.76961900_76961905del, NC_000014.8:g.76961902_76961905del, NC_000014.8:g.76961903_76961905del, NC_000014.8:g.76961904_76961905del, NC_000014.8:g.76961905del, NC_000014.8:g.76961905dup, NC_000014.8:g.76961904_76961905dup, NC_000014.8:g.76961903_76961905dup, NC_000014.8:g.76961902_76961905dup, NC_000014.8:g.76961896_76961905dup, NC_000014.8:g.76961892_76961905dup, NG_012278.2:g.129209_129216del, NG_012278.2:g.129211_129216del, NG_012278.2:g.129213_129216del, NG_012278.2:g.129214_129216del, NG_012278.2:g.129215_129216del, NG_012278.2:g.129216del, NG_012278.2:g.129216dup, NG_012278.2:g.129215_129216dup, NG_012278.2:g.129214_129216dup, NG_012278.2:g.129213_129216dup, NG_012278.2:g.129207_129216dup, NG_012278.2:g.129203_129216dup

                                    18.

                                    rs1491332299 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->ATTT [Show Flanks]
                                      Chromosome:
                                      14:76386455 (GRCh38)
                                      14:76852799 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:76386455:TTT:TTTATTT
                                      Gene:
                                      ESRRB (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TTTATTT=0./0 (ALFA)
                                      TTTA=0.00008/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1491259930 has merged into rs10573960 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
                                        Chromosome:
                                        14:76386468 (GRCh38)
                                        14:76852811 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:76386454:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:76386454:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:76386454:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:76386454:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:76386454:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:76386454:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:76386454:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76386454:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76386454:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:76386454:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
                                        Gene:
                                        ESRRB (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTTTTTTTTTTT=0./0 (ALFA)
                                        TT=0.5/2504 (1000Genomes)
                                        HGVS:
                                        NC_000014.9:g.76386468_76386474del, NC_000014.9:g.76386470_76386474del, NC_000014.9:g.76386471_76386474del, NC_000014.9:g.76386472_76386474del, NC_000014.9:g.76386473_76386474del, NC_000014.9:g.76386474del, NC_000014.9:g.76386474dup, NC_000014.9:g.76386473_76386474dup, NC_000014.9:g.76386472_76386474dup, NC_000014.9:g.76386468_76386474dup, NC_000014.8:g.76852811_76852817del, NC_000014.8:g.76852813_76852817del, NC_000014.8:g.76852814_76852817del, NC_000014.8:g.76852815_76852817del, NC_000014.8:g.76852816_76852817del, NC_000014.8:g.76852817del, NC_000014.8:g.76852817dup, NC_000014.8:g.76852816_76852817dup, NC_000014.8:g.76852815_76852817dup, NC_000014.8:g.76852811_76852817dup, NG_012278.2:g.20122_20128del, NG_012278.2:g.20124_20128del, NG_012278.2:g.20125_20128del, NG_012278.2:g.20126_20128del, NG_012278.2:g.20127_20128del, NG_012278.2:g.20128del, NG_012278.2:g.20128dup, NG_012278.2:g.20127_20128dup, NG_012278.2:g.20126_20128dup, NG_012278.2:g.20122_20128dup

                                        20.

                                        rs1491258254 [Homo sapiens]
                                          Variant type:
                                          INS
                                          Alleles:
                                          ->C [Show Flanks]
                                          Chromosome:
                                          14:76449762 (GRCh38)
                                          14:76916106 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:76449762::C
                                          Gene:
                                          ESRRB (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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