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Items: 1 to 20 of 1000

1.

rs1491581053 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    2:48698847 (GRCh38)
    2:48925986 (GRCh37)
    Canonical SPDI:
    NC_000002.12:48698846:AT:
    Gene:
    LHCGR (Varview), STON1-GTF2A1L (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.00001/1 (GnomAD_exomes)
    -=0.00007/1 (ExAC)
    HGVS:

    2.

    rs1491568840 has merged into rs113272578 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CA>-,CACA,CACACA [Show Flanks]
      Chromosome:
      2:48714752 (GRCh38)
      2:48941891 (GRCh37)
      Canonical SPDI:
      NC_000002.12:48714740:ACACACACACACA:ACACACACACA,NC_000002.12:48714740:ACACACACACACA:ACACACACACACACA,NC_000002.12:48714740:ACACACACACACA:ACACACACACACACACA
      Gene:
      LHCGR (Varview), STON1-GTF2A1L (Varview)
      Functional Consequence:
      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ACACACACACACACACA=0./0 (ALFA)
      ACAC=0.000378/100 (TOPMED)
      AC=0.05/2 (GENOME_DK)
      AC=0.087174/87 (GoNL)
      AC=0.146667/88 (NorthernSweden)
      AC=0.154435/773 (1000Genomes)
      HGVS:

      3.

      rs1491532233 has merged into rs60837194 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GGGGG>-,G,GG,GGG,GGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
        Chromosome:
        2:48752992 (GRCh38)
        2:48980131 (GRCh37)
        Canonical SPDI:
        NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000002.12:48752981:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
        Gene:
        LHCGR (Varview), STON1-GTF2A1L (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GGGGGGGGGGG=0./0 (ALFA)
        -=0.0109/6 (NorthernSweden)
        HGVS:
        NC_000002.12:g.48752992_48752996del, NC_000002.12:g.48752993_48752996del, NC_000002.12:g.48752994_48752996del, NC_000002.12:g.48752995_48752996del, NC_000002.12:g.48752996del, NC_000002.12:g.48752996dup, NC_000002.12:g.48752995_48752996dup, NC_000002.12:g.48752994_48752996dup, NC_000002.12:g.48752993_48752996dup, NC_000002.12:g.48752992_48752996dup, NC_000002.12:g.48752991_48752996dup, NC_000002.12:g.48752990_48752996dup, NC_000002.12:g.48752989_48752996dup, NC_000002.12:g.48752988_48752996dup, NC_000002.12:g.48752987_48752996dup, NC_000002.12:g.48752986_48752996dup, NC_000002.12:g.48752985_48752996dup, NC_000002.12:g.48752984_48752996dup, NC_000002.12:g.48752983_48752996dup, NC_000002.12:g.48752982_48752996dup, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGG, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGGG, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGGGG, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGGGGG, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGGGGGG, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGGGGGGG, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGGGGGGGG, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.12:g.48752996_48752997insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.11:g.48980131_48980135del, NC_000002.11:g.48980132_48980135del, NC_000002.11:g.48980133_48980135del, NC_000002.11:g.48980134_48980135del, NC_000002.11:g.48980135del, NC_000002.11:g.48980135dup, NC_000002.11:g.48980134_48980135dup, NC_000002.11:g.48980133_48980135dup, NC_000002.11:g.48980132_48980135dup, NC_000002.11:g.48980131_48980135dup, NC_000002.11:g.48980130_48980135dup, NC_000002.11:g.48980129_48980135dup, NC_000002.11:g.48980128_48980135dup, NC_000002.11:g.48980127_48980135dup, NC_000002.11:g.48980126_48980135dup, NC_000002.11:g.48980125_48980135dup, NC_000002.11:g.48980124_48980135dup, NC_000002.11:g.48980123_48980135dup, NC_000002.11:g.48980122_48980135dup, NC_000002.11:g.48980121_48980135dup, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGG, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGGG, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGGGG, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGGGGG, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGGGGGG, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGGGGGGG, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGGGGGGGG, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000002.11:g.48980135_48980136insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_033050.2:g.228068_228072del, NG_033050.2:g.228069_228072del, NG_033050.2:g.228070_228072del, NG_033050.2:g.228071_228072del, NG_033050.2:g.228072del, NG_033050.2:g.228072dup, NG_033050.2:g.228071_228072dup, NG_033050.2:g.228070_228072dup, NG_033050.2:g.228069_228072dup, NG_033050.2:g.228068_228072dup, NG_033050.2:g.228067_228072dup, NG_033050.2:g.228066_228072dup, NG_033050.2:g.228065_228072dup, NG_033050.2:g.228064_228072dup, NG_033050.2:g.228063_228072dup, NG_033050.2:g.228062_228072dup, NG_033050.2:g.228061_228072dup, NG_033050.2:g.228060_228072dup, NG_033050.2:g.228059_228072dup, NG_033050.2:g.228058_228072dup, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGG, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGGG, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGGGG, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGGGGG, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGGGGGG, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGGGGGGG, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGGGGGGGG, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGGGGGGGGG, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGGGGGGGGGG, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGGGGGGGGGGG, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_033050.2:g.228072_228073insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_008193.2:g.7756_7760del, NG_008193.2:g.7757_7760del, NG_008193.2:g.7758_7760del, NG_008193.2:g.7759_7760del, NG_008193.2:g.7760del, NG_008193.2:g.7760dup, NG_008193.2:g.7759_7760dup, NG_008193.2:g.7758_7760dup, NG_008193.2:g.7757_7760dup, NG_008193.2:g.7756_7760dup, NG_008193.2:g.7755_7760dup, NG_008193.2:g.7754_7760dup, NG_008193.2:g.7753_7760dup, NG_008193.2:g.7752_7760dup, NG_008193.2:g.7751_7760dup, NG_008193.2:g.7750_7760dup, NG_008193.2:g.7749_7760dup, NG_008193.2:g.7748_7760dup, NG_008193.2:g.7747_7760dup, NG_008193.2:g.7746_7760dup, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCC, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCCC, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCCCC, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCCCCC, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCCCCCC, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCCCCCCC, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCCCCCCCC, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCCCCCCCCC, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCCCCCCCCCC, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCCCCCCCCCCC, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_008193.2:g.7760_7761insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

        4.

        rs1491250705 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          2:48714499 (GRCh38)
          2:48941639 (GRCh37)
          Canonical SPDI:
          NC_000002.12:48714499:C:CC
          Gene:
          LHCGR (Varview), STON1-GTF2A1L (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          CC=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:

          5.

          rs1491214592 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->TG [Show Flanks]
            Chromosome:
            2:48752982 (GRCh38)
            2:48980122 (GRCh37)
            Canonical SPDI:
            NC_000002.12:48752982:G:GTG
            Gene:
            LHCGR (Varview), STON1-GTF2A1L (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            GTG=0./0 (ALFA)
            GT=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1491137572 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              2:48691845 (GRCh38)
              2:48918984 (GRCh37)
              Canonical SPDI:
              NC_000002.12:48691844:CA:
              Gene:
              LHCGR (Varview), STON1-GTF2A1L (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00042/5 (ALFA)
              HGVS:

              7.

              rs1491134145 has merged into rs60937994 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                2:48691854 (GRCh38)
                2:48918993 (GRCh37)
                Canonical SPDI:
                NC_000002.12:48691845:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:48691845:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:48691845:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:48691845:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:48691845:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:48691845:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:48691845:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:48691845:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:48691845:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:48691845:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:48691845:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:48691845:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:48691845:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                LHCGR (Varview), STON1-GTF2A1L (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAA=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                -=0.019928/11 (NorthernSweden)
                -=0.254193/1273 (1000Genomes)
                HGVS:
                NC_000002.12:g.48691854_48691864del, NC_000002.12:g.48691856_48691864del, NC_000002.12:g.48691859_48691864del, NC_000002.12:g.48691860_48691864del, NC_000002.12:g.48691861_48691864del, NC_000002.12:g.48691862_48691864del, NC_000002.12:g.48691863_48691864del, NC_000002.12:g.48691864del, NC_000002.12:g.48691864dup, NC_000002.12:g.48691863_48691864dup, NC_000002.12:g.48691862_48691864dup, NC_000002.12:g.48691861_48691864dup, NC_000002.12:g.48691860_48691864dup, NC_000002.11:g.48918993_48919003del, NC_000002.11:g.48918995_48919003del, NC_000002.11:g.48918998_48919003del, NC_000002.11:g.48918999_48919003del, NC_000002.11:g.48919000_48919003del, NC_000002.11:g.48919001_48919003del, NC_000002.11:g.48919002_48919003del, NC_000002.11:g.48919003del, NC_000002.11:g.48919003dup, NC_000002.11:g.48919002_48919003dup, NC_000002.11:g.48919001_48919003dup, NC_000002.11:g.48919000_48919003dup, NC_000002.11:g.48918999_48919003dup, NG_033050.2:g.166930_166940del, NG_033050.2:g.166932_166940del, NG_033050.2:g.166935_166940del, NG_033050.2:g.166936_166940del, NG_033050.2:g.166937_166940del, NG_033050.2:g.166938_166940del, NG_033050.2:g.166939_166940del, NG_033050.2:g.166940del, NG_033050.2:g.166940dup, NG_033050.2:g.166939_166940dup, NG_033050.2:g.166938_166940dup, NG_033050.2:g.166937_166940dup, NG_033050.2:g.166936_166940dup, NG_008193.2:g.68886_68896del, NG_008193.2:g.68888_68896del, NG_008193.2:g.68891_68896del, NG_008193.2:g.68892_68896del, NG_008193.2:g.68893_68896del, NG_008193.2:g.68894_68896del, NG_008193.2:g.68895_68896del, NG_008193.2:g.68896del, NG_008193.2:g.68896dup, NG_008193.2:g.68895_68896dup, NG_008193.2:g.68894_68896dup, NG_008193.2:g.68893_68896dup, NG_008193.2:g.68892_68896dup

                8.

                rs1491097255 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CT>- [Show Flanks]
                  Chromosome:
                  2:48714500 (GRCh38)
                  2:48941639 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:48714498:TCT:T
                  Gene:
                  LHCGR (Varview), STON1-GTF2A1L (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1491057138 has merged into rs35333492 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    2:48749732 (GRCh38)
                    2:48976871 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:48749720:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:48749720:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:48749720:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:48749720:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:48749720:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:48749720:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:48749720:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:48749720:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:48749720:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:48749720:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:48749720:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    LHCGR (Varview), STON1-GTF2A1L (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAAAA=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.253994/1272 (1000Genomes)
                    HGVS:
                    NC_000002.12:g.48749732_48749738del, NC_000002.12:g.48749734_48749738del, NC_000002.12:g.48749735_48749738del, NC_000002.12:g.48749736_48749738del, NC_000002.12:g.48749737_48749738del, NC_000002.12:g.48749738del, NC_000002.12:g.48749738dup, NC_000002.12:g.48749737_48749738dup, NC_000002.12:g.48749736_48749738dup, NC_000002.12:g.48749735_48749738dup, NC_000002.12:g.48749731_48749738dup, NC_000002.11:g.48976871_48976877del, NC_000002.11:g.48976873_48976877del, NC_000002.11:g.48976874_48976877del, NC_000002.11:g.48976875_48976877del, NC_000002.11:g.48976876_48976877del, NC_000002.11:g.48976877del, NC_000002.11:g.48976877dup, NC_000002.11:g.48976876_48976877dup, NC_000002.11:g.48976875_48976877dup, NC_000002.11:g.48976874_48976877dup, NC_000002.11:g.48976870_48976877dup, NG_033050.2:g.224808_224814del, NG_033050.2:g.224810_224814del, NG_033050.2:g.224811_224814del, NG_033050.2:g.224812_224814del, NG_033050.2:g.224813_224814del, NG_033050.2:g.224814del, NG_033050.2:g.224814dup, NG_033050.2:g.224813_224814dup, NG_033050.2:g.224812_224814dup, NG_033050.2:g.224811_224814dup, NG_033050.2:g.224807_224814dup, NG_008193.2:g.11015_11021del, NG_008193.2:g.11017_11021del, NG_008193.2:g.11018_11021del, NG_008193.2:g.11019_11021del, NG_008193.2:g.11020_11021del, NG_008193.2:g.11021del, NG_008193.2:g.11021dup, NG_008193.2:g.11020_11021dup, NG_008193.2:g.11019_11021dup, NG_008193.2:g.11018_11021dup, NG_008193.2:g.11014_11021dup

                    10.

                    rs1491011568 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      2:48711944 (GRCh38)
                      2:48939084 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:48711944:AAA:AAAA
                      Gene:
                      LHCGR (Varview), STON1-GTF2A1L (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAA=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      A=0.00006/16 (TOPMED)
                      HGVS:

                      11.

                      rs1490988482 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        2:48743388 (GRCh38)
                        2:48970527 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:48743387:C:G,NC_000002.12:48743387:C:T
                        Gene:
                        LHCGR (Varview), STON1-GTF2A1L (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1490958912 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:48742757 (GRCh38)
                          2:48969896 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:48742756:A:G
                          Gene:
                          LHCGR (Varview), STON1-GTF2A1L (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1490951345 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:48697586 (GRCh38)
                            2:48924725 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:48697585:T:C
                            Gene:
                            LHCGR (Varview), STON1-GTF2A1L (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1490863983 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              2:48724617 (GRCh38)
                              2:48951756 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:48724616:G:A
                              Gene:
                              LHCGR (Varview), STON1-GTF2A1L (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1490772083 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                2:48730186 (GRCh38)
                                2:48957325 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:48730185:T:C,NC_000002.12:48730185:T:G
                                Gene:
                                LHCGR (Varview), STON1-GTF2A1L (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                HGVS:

                                16.

                                rs1490746064 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  2:48731153 (GRCh38)
                                  2:48958292 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:48731152:C:A
                                  Gene:
                                  LHCGR (Varview), STON1-GTF2A1L (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000011/3 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490711867 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:48702701 (GRCh38)
                                    2:48929840 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:48702700:T:C
                                    Gene:
                                    LHCGR (Varview), STON1-GTF2A1L (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490696080 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:48700488 (GRCh38)
                                      2:48927627 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:48700487:A:G
                                      Gene:
                                      LHCGR (Varview), STON1-GTF2A1L (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490684696 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->CG [Show Flanks]
                                        Chromosome:
                                        2:48754602 (GRCh38)
                                        2:48981742 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:48754602::CG
                                        Gene:
                                        LHCGR (Varview), STON1-GTF2A1L (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CG=0./0 (ALFA)
                                        CG=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490656762 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          2:48717290 (GRCh38)
                                          2:48944429 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:48717289:C:A,NC_000002.12:48717289:C:T
                                          Gene:
                                          LHCGR (Varview), STON1-GTF2A1L (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          T=0.000093/13 (GnomAD)
                                          T=0.000106/2 (TOMMO)
                                          T=0.001027/3 (KOREAN)
                                          HGVS:

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