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 30585

1.

rs1491578257 has merged into rs67210395 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTT>-,T,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    16:75010713 (GRCh38)
    16:75044611 (GRCh37)
    Canonical SPDI:
    NC_000016.10:75010711:TTTTTTT:T,NC_000016.10:75010711:TTTTTTT:TT,NC_000016.10:75010711:TTTTTTT:TTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75010711:TTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    ZNRF1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    NC_000016.10:g.75010713_75010718del, NC_000016.10:g.75010714_75010718del, NC_000016.10:g.75010717_75010718del, NC_000016.10:g.75010718del, NC_000016.10:g.75010718dup, NC_000016.10:g.75010717_75010718dup, NC_000016.10:g.75010716_75010718dup, NC_000016.10:g.75010715_75010718dup, NC_000016.10:g.75010714_75010718dup, NC_000016.10:g.75010713_75010718dup, NC_000016.10:g.75010712_75010718dup, NC_000016.10:g.75010718_75010719insTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75010718_75010719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044611_75044616del, NC_000016.9:g.75044612_75044616del, NC_000016.9:g.75044615_75044616del, NC_000016.9:g.75044616del, NC_000016.9:g.75044616dup, NC_000016.9:g.75044615_75044616dup, NC_000016.9:g.75044614_75044616dup, NC_000016.9:g.75044613_75044616dup, NC_000016.9:g.75044612_75044616dup, NC_000016.9:g.75044611_75044616dup, NC_000016.9:g.75044610_75044616dup, NC_000016.9:g.75044616_75044617insTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75044616_75044617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    2.

    rs1491568892 has merged into rs71158569 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
      Chromosome:
      16:74997810 (GRCh38)
      16:75031708 (GRCh37)
      Canonical SPDI:
      NC_000016.10:74997800:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:74997800:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:74997800:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:74997800:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:74997800:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:74997800:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:74997800:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
      Gene:
      ZNRF1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAA=0./0 (ALFA)
      A=0.0148/57 (ALSPAC)
      A=0.017/63 (TWINSUK)
      A=0.1741/872 (1000Genomes)
      A=0.3/12 (GENOME_DK)
      HGVS:
      3.

      rs1491568453 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CTTT [Show Flanks]
        Chromosome:
        16:75058107 (GRCh38)
        16:75092006 (GRCh37)
        Canonical SPDI:
        NC_000016.10:75058107:TTT:TTTCTTT
        Gene:
        ZNRF1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TTTCTTT=0./0 (ALFA)
        TTTC=0.00036/1 (GnomAD)
        HGVS:
        4.

        rs1491567226 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          16:75053589 (GRCh38)
          16:75087487 (GRCh37)
          Canonical SPDI:
          NC_000016.10:75053588:CA:
          Gene:
          ZNRF1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00034/4 (ALFA)
          -=0.00011/3 (TOMMO)
          HGVS:
          5.

          rs1491487956 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            16:75059245 (GRCh38)
            16:75093143 (GRCh37)
            Canonical SPDI:
            NC_000016.10:75059243:TCT:T
            Gene:
            ZNRF1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.0086/102 (ALFA)
            -=0.00046/7 (TOMMO)
            -=0.00204/162 (GnomAD)
            -=0.19071/735 (ALSPAC)
            -=0.4021/1491 (TWINSUK)
            HGVS:
            6.

            rs1491477752 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->G [Show Flanks]
              Chromosome:
              16:75053641 (GRCh38)
              16:75087540 (GRCh37)
              Canonical SPDI:
              NC_000016.10:75053641:GGGG:GGGGG
              Gene:
              ZNRF1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GGGGG=0./0 (ALFA)
              G=0.000079/11 (GnomAD)
              G=0.001062/18 (TOMMO)
              G=0.003275/6 (Korea1K)
              HGVS:
              7.

              rs1491421666 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AT>- [Show Flanks]
                Chromosome:
                16:75073118 (GRCh38)
                16:75107016 (GRCh37)
                Canonical SPDI:
                NC_000016.10:75073117:AT:
                Gene:
                ZNRF1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:
                8.

                rs1491383408 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TA>- [Show Flanks]
                  Chromosome:
                  16:75058122 (GRCh38)
                  16:75092020 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:75058121:TA:
                  Gene:
                  ZNRF1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000133/18 (GnomAD)
                  HGVS:
                  9.

                  rs1491364616 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->GTTTT [Show Flanks]
                    Chromosome:
                    16:75010712 (GRCh38)
                    16:75044611 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:75010712:TTTT:TTTTGTTTT
                    Gene:
                    ZNRF1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTGTTTT=0.01256/149 (ALFA)
                    TTTTG=0.02593/14 (NorthernSweden)
                    TTTTG=0.07568/3051 (GnomAD)
                    HGVS:
                    10.

                    rs1491341275 has merged into rs1215518352 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AA>-,A,AAA [Show Flanks]
                      Chromosome:
                      16:75058124 (GRCh38)
                      16:75092022 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:75058122:AAA:A,NC_000016.10:75058122:AAA:AA,NC_000016.10:75058122:AAA:AAAA
                      Gene:
                      ZNRF1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAA=0.000217/4 (ALFA)
                      A=0.000008/2 (TOPMED)
                      -=0.003008/50 (TOMMO)
                      HGVS:
                      11.

                      rs1491339732 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        ->TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        12.

                        rs1491315694 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->AGAGAGAGTG,AGAGAGAGTGAGTG,AGAGAGAGTGAGTGTG,AGAGAGTGAGTGTG,AGAGTGAGTG,AGTG [Show Flanks]
                          Chromosome:
                          16:75085817 (GRCh38)
                          16:75119716 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:75085817:G:GAGAGAGAGTG,NC_000016.10:75085817:G:GAGAGAGAGTGAGTG,NC_000016.10:75085817:G:GAGAGAGAGTGAGTGTG,NC_000016.10:75085817:G:GAGAGAGTGAGTGTG,NC_000016.10:75085817:G:GAGAGTGAGTG,NC_000016.10:75085817:G:GAGTG
                          Gene:
                          ZNRF1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          GAGAGAGAGTGAGTG=0./0 (ALFA)
                          GAGT=0.000008/2 (TOPMED)
                          GAGAGAGAGT=0.000015/2 (GnomAD)
                          GAGAGAGAGT=0.000177/3 (TOMMO)
                          HGVS:
                          13.

                          rs1491292095 has merged into rs59468839 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                            Chromosome:
                            16:75030843 (GRCh38)
                            16:75064741 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75030833:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                            Gene:
                            ZNRF1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTT=0./0 (ALFA)
                            -=0.000363/96 (TOPMED)
                            -=0.044369/171 (ALSPAC)
                            HGVS:
                            NC_000016.10:g.75030843_75030855del, NC_000016.10:g.75030845_75030855del, NC_000016.10:g.75030847_75030855del, NC_000016.10:g.75030848_75030855del, NC_000016.10:g.75030849_75030855del, NC_000016.10:g.75030850_75030855del, NC_000016.10:g.75030851_75030855del, NC_000016.10:g.75030852_75030855del, NC_000016.10:g.75030854_75030855del, NC_000016.10:g.75030855del, NC_000016.10:g.75030855dup, NC_000016.10:g.75030854_75030855dup, NC_000016.10:g.75030853_75030855dup, NC_000016.10:g.75030852_75030855dup, NC_000016.10:g.75030851_75030855dup, NC_000016.10:g.75030850_75030855dup, NC_000016.10:g.75030849_75030855dup, NC_000016.10:g.75030848_75030855dup, NC_000016.10:g.75030847_75030855dup, NC_000016.10:g.75030846_75030855dup, NC_000016.10:g.75030845_75030855dup, NC_000016.10:g.75030844_75030855dup, NC_000016.10:g.75030842_75030855dup, NC_000016.10:g.75030841_75030855dup, NC_000016.10:g.75030840_75030855dup, NC_000016.10:g.75030838_75030855dup, NC_000016.10:g.75030837_75030855dup, NC_000016.10:g.75030836_75030855dup, NC_000016.10:g.75030835_75030855dup, NC_000016.10:g.75030834_75030855dup, NC_000016.10:g.75030855_75030856insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75030855_75030856insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75030855_75030856insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.75030855_75030856insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75064741_75064753del, NC_000016.9:g.75064743_75064753del, NC_000016.9:g.75064745_75064753del, NC_000016.9:g.75064746_75064753del, NC_000016.9:g.75064747_75064753del, NC_000016.9:g.75064748_75064753del, NC_000016.9:g.75064749_75064753del, NC_000016.9:g.75064750_75064753del, NC_000016.9:g.75064752_75064753del, NC_000016.9:g.75064753del, NC_000016.9:g.75064753dup, NC_000016.9:g.75064752_75064753dup, NC_000016.9:g.75064751_75064753dup, NC_000016.9:g.75064750_75064753dup, NC_000016.9:g.75064749_75064753dup, NC_000016.9:g.75064748_75064753dup, NC_000016.9:g.75064747_75064753dup, NC_000016.9:g.75064746_75064753dup, NC_000016.9:g.75064745_75064753dup, NC_000016.9:g.75064744_75064753dup, NC_000016.9:g.75064743_75064753dup, NC_000016.9:g.75064742_75064753dup, NC_000016.9:g.75064740_75064753dup, NC_000016.9:g.75064739_75064753dup, NC_000016.9:g.75064738_75064753dup, NC_000016.9:g.75064736_75064753dup, NC_000016.9:g.75064735_75064753dup, NC_000016.9:g.75064734_75064753dup, NC_000016.9:g.75064733_75064753dup, NC_000016.9:g.75064732_75064753dup, NC_000016.9:g.75064753_75064754insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75064753_75064754insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75064753_75064754insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75064753_75064754insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                            14.

                            rs1491270677 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->GAAAAGAAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              16:74997801 (GRCh38)
                              16:75031700 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:74997801:AAAAAAAAAAAAA:AAAAAAAAAAAAAGAAAAGAAAAAAAAAAAAA
                              Gene:
                              ZNRF1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              AAAAAAAAAAAAAGAAAAGAAAAAAAAAAAAA=0./0 (ALFA)
                              AAAAAAAAAAAAAGAAAAG=0.00051/1 (GnomAD)
                              HGVS:
                              15.

                              rs1491213490 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                ->TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT
                                Chromosome:
                                no mapping
                                Canonical SPDI:
                                16.

                                rs1491193952 has merged into rs55813752 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  16:75033449 (GRCh38)
                                  16:75067347 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75033437:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  ZNRF1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTTTT=0./0 (ALFA)
                                  TT=0.1454/728 (1000Genomes)
                                  TT=0.3467/208 (NorthernSweden)
                                  HGVS:
                                  NC_000016.10:g.75033449_75033457del, NC_000016.10:g.75033451_75033457del, NC_000016.10:g.75033452_75033457del, NC_000016.10:g.75033453_75033457del, NC_000016.10:g.75033454_75033457del, NC_000016.10:g.75033455_75033457del, NC_000016.10:g.75033456_75033457del, NC_000016.10:g.75033457del, NC_000016.10:g.75033457dup, NC_000016.10:g.75033456_75033457dup, NC_000016.10:g.75033455_75033457dup, NC_000016.10:g.75033457_75033458insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.75067347_75067355del, NC_000016.9:g.75067349_75067355del, NC_000016.9:g.75067350_75067355del, NC_000016.9:g.75067351_75067355del, NC_000016.9:g.75067352_75067355del, NC_000016.9:g.75067353_75067355del, NC_000016.9:g.75067354_75067355del, NC_000016.9:g.75067355del, NC_000016.9:g.75067355dup, NC_000016.9:g.75067354_75067355dup, NC_000016.9:g.75067353_75067355dup, NC_000016.9:g.75067355_75067356insTTTTTTTTTTTTTTTTTTTTTTTTT
                                  17.

                                  rs1491177008 has merged into rs11321828 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    16:75007072 (GRCh38)
                                    16:75040970 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75007059:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    ZNRF1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTTTTTTT=0./0 (ALFA)
                                    T=0.3866/1936 (1000Genomes)
                                    HGVS:
                                    NC_000016.10:g.75007072_75007078del, NC_000016.10:g.75007075_75007078del, NC_000016.10:g.75007076_75007078del, NC_000016.10:g.75007077_75007078del, NC_000016.10:g.75007078del, NC_000016.10:g.75007078dup, NC_000016.10:g.75007077_75007078dup, NC_000016.10:g.75007076_75007078dup, NC_000016.10:g.75007075_75007078dup, NC_000016.10:g.75007071_75007078dup, NC_000016.9:g.75040970_75040976del, NC_000016.9:g.75040973_75040976del, NC_000016.9:g.75040974_75040976del, NC_000016.9:g.75040975_75040976del, NC_000016.9:g.75040976del, NC_000016.9:g.75040976dup, NC_000016.9:g.75040975_75040976dup, NC_000016.9:g.75040974_75040976dup, NC_000016.9:g.75040973_75040976dup, NC_000016.9:g.75040969_75040976dup, XM_017023794.2:c.*4702_*4708del, XM_017023794.2:c.*4705_*4708del, XM_017023794.2:c.*4706_*4708del, XM_017023794.2:c.*4707_*4708del, XM_017023794.2:c.*4708del, XM_017023794.2:c.*4708dup, XM_017023794.2:c.*4707_*4708dup, XM_017023794.2:c.*4706_*4708dup, XM_017023794.2:c.*4705_*4708dup, XM_017023794.2:c.*4701_*4708dup
                                    18.

                                    rs1491106309 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      GC>- [Show Flanks]
                                      Chromosome:
                                      16:75096058 (GRCh38)
                                      16:75129956 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:75096057:GC:
                                      Gene:
                                      ZNRF1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      -=0.0672/249 (TWINSUK)
                                      -=0.0815/314 (ALSPAC)
                                      HGVS:
                                      19.

                                      rs1491081880 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TG>- [Show Flanks]
                                        Chromosome:
                                        16:75085819 (GRCh38)
                                        16:75119717 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:75085817:GTG:G
                                        Gene:
                                        ZNRF1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        -=0.00081/14 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1491052513 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GT>- [Show Flanks]
                                          Chromosome:
                                          16:75010719 (GRCh38)
                                          16:75044617 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:75010717:TGT:T
                                          Gene:
                                          ZNRF1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.00025/3 (ALFA)
                                          -=0.0008/12 (TOMMO)
                                          -=0.00209/106 (GnomAD)
                                          -=0.01022/18 (Korea1K)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...