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Items: 1 to 20 of 41854

1.

rs1491575208 has merged into rs34465971 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTGTTTTGTTTTG>-,TTTTG,TTTTGTTTTG,TTTTGTTTTGTTTTGTTTTG,TTTTGTTTTGTTTTGTTTTGTTTTG,TTTTGTTTTGTTTTGTTTTGTTTTGTTTTG [Show Flanks]
    Chromosome:
    8:122957472 (GRCh38)
    8:123969712 (GRCh37)
    Canonical SPDI:
    NC_000008.11:122957458:TTGTTTTGTTTTGTTTTGTTTTGTTTTG:TTGTTTTGTTTTG,NC_000008.11:122957458:TTGTTTTGTTTTGTTTTGTTTTGTTTTG:TTGTTTTGTTTTGTTTTG,NC_000008.11:122957458:TTGTTTTGTTTTGTTTTGTTTTGTTTTG:TTGTTTTGTTTTGTTTTGTTTTG,NC_000008.11:122957458:TTGTTTTGTTTTGTTTTGTTTTGTTTTG:TTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG,NC_000008.11:122957458:TTGTTTTGTTTTGTTTTGTTTTGTTTTG:TTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG,NC_000008.11:122957458:TTGTTTTGTTTTGTTTTGTTTTGTTTTG:TTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG
    Gene:
    ZHX2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTGTTTTGTTTTGTTTTG=0./0 (ALFA)
    HGVS:
    2.

    rs1491531428 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->TTA
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491451859 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TG>- [Show Flanks]
        Chromosome:
        8:122906688 (GRCh38)
        8:123918928 (GRCh37)
        Canonical SPDI:
        NC_000008.11:122906687:TG:
        Gene:
        ZHX2 (Varview), LOC124902011 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.000169/2 (ALFA)
        -=0.000066/9 (GnomAD)
        HGVS:
        4.

        rs1491448591 has merged into rs59893492 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
          Chromosome:
          8:122891298 (GRCh38)
          8:123903537 (GRCh37)
          Canonical SPDI:
          NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:122891270:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
          Gene:
          ZHX2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
          HGVS:
          NC_000008.11:g.122891272GT[13], NC_000008.11:g.122891272GT[14], NC_000008.11:g.122891272GT[15], NC_000008.11:g.122891272GT[16], NC_000008.11:g.122891272GT[17], NC_000008.11:g.122891272GT[18], NC_000008.11:g.122891272GT[19], NC_000008.11:g.122891272GT[20], NC_000008.11:g.122891272GT[21], NC_000008.11:g.122891272GT[22], NC_000008.11:g.122891272GT[23], NC_000008.11:g.122891272GT[24], NC_000008.11:g.122891272GT[25], NC_000008.11:g.122891272GT[26], NC_000008.11:g.122891272GT[28], NC_000008.11:g.122891272GT[29], NC_000008.11:g.122891272GT[30], NC_000008.11:g.122891272GT[31], NC_000008.11:g.122891272GT[32], NC_000008.11:g.122891272GT[33], NC_000008.11:g.122891272GT[35], NC_000008.11:g.122891272GT[36], NC_000008.10:g.123903511GT[13], NC_000008.10:g.123903511GT[14], NC_000008.10:g.123903511GT[15], NC_000008.10:g.123903511GT[16], NC_000008.10:g.123903511GT[17], NC_000008.10:g.123903511GT[18], NC_000008.10:g.123903511GT[19], NC_000008.10:g.123903511GT[20], NC_000008.10:g.123903511GT[21], NC_000008.10:g.123903511GT[22], NC_000008.10:g.123903511GT[23], NC_000008.10:g.123903511GT[24], NC_000008.10:g.123903511GT[25], NC_000008.10:g.123903511GT[26], NC_000008.10:g.123903511GT[28], NC_000008.10:g.123903511GT[29], NC_000008.10:g.123903511GT[30], NC_000008.10:g.123903511GT[31], NC_000008.10:g.123903511GT[32], NC_000008.10:g.123903511GT[33], NC_000008.10:g.123903511GT[35], NC_000008.10:g.123903511GT[36], NG_046951.1:g.114924GT[13], NG_046951.1:g.114924GT[14], NG_046951.1:g.114924GT[15], NG_046951.1:g.114924GT[16], NG_046951.1:g.114924GT[17], NG_046951.1:g.114924GT[18], NG_046951.1:g.114924GT[19], NG_046951.1:g.114924GT[20], NG_046951.1:g.114924GT[21], NG_046951.1:g.114924GT[22], NG_046951.1:g.114924GT[23], NG_046951.1:g.114924GT[24], NG_046951.1:g.114924GT[25], NG_046951.1:g.114924GT[26], NG_046951.1:g.114924GT[28], NG_046951.1:g.114924GT[29], NG_046951.1:g.114924GT[30], NG_046951.1:g.114924GT[31], NG_046951.1:g.114924GT[32], NG_046951.1:g.114924GT[33], NG_046951.1:g.114924GT[35], NG_046951.1:g.114924GT[36]
          5.

          rs1491419666 has merged into rs36046690 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAA>-,A,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            8:122861046 (GRCh38)
            8:123873285 (GRCh37)
            Canonical SPDI:
            NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122861035:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            ZHX2 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000008.11:g.122861046_122861058del, NC_000008.11:g.122861047_122861058del, NC_000008.11:g.122861052_122861058del, NC_000008.11:g.122861053_122861058del, NC_000008.11:g.122861054_122861058del, NC_000008.11:g.122861055_122861058del, NC_000008.11:g.122861056_122861058del, NC_000008.11:g.122861057_122861058del, NC_000008.11:g.122861058del, NC_000008.11:g.122861058dup, NC_000008.11:g.122861057_122861058dup, NC_000008.11:g.122861056_122861058dup, NC_000008.11:g.122861055_122861058dup, NC_000008.11:g.122861053_122861058dup, NC_000008.11:g.122861052_122861058dup, NC_000008.11:g.122861051_122861058dup, NC_000008.11:g.122861050_122861058dup, NC_000008.11:g.122861049_122861058dup, NC_000008.11:g.122861048_122861058dup, NC_000008.11:g.122861058_122861059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.123873285_123873297del, NC_000008.10:g.123873286_123873297del, NC_000008.10:g.123873291_123873297del, NC_000008.10:g.123873292_123873297del, NC_000008.10:g.123873293_123873297del, NC_000008.10:g.123873294_123873297del, NC_000008.10:g.123873295_123873297del, NC_000008.10:g.123873296_123873297del, NC_000008.10:g.123873297del, NC_000008.10:g.123873297dup, NC_000008.10:g.123873296_123873297dup, NC_000008.10:g.123873295_123873297dup, NC_000008.10:g.123873294_123873297dup, NC_000008.10:g.123873292_123873297dup, NC_000008.10:g.123873291_123873297dup, NC_000008.10:g.123873290_123873297dup, NC_000008.10:g.123873289_123873297dup, NC_000008.10:g.123873288_123873297dup, NC_000008.10:g.123873287_123873297dup, NC_000008.10:g.123873297_123873298insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_046951.1:g.84698_84710del, NG_046951.1:g.84699_84710del, NG_046951.1:g.84704_84710del, NG_046951.1:g.84705_84710del, NG_046951.1:g.84706_84710del, NG_046951.1:g.84707_84710del, NG_046951.1:g.84708_84710del, NG_046951.1:g.84709_84710del, NG_046951.1:g.84710del, NG_046951.1:g.84710dup, NG_046951.1:g.84709_84710dup, NG_046951.1:g.84708_84710dup, NG_046951.1:g.84707_84710dup, NG_046951.1:g.84705_84710dup, NG_046951.1:g.84704_84710dup, NG_046951.1:g.84703_84710dup, NG_046951.1:g.84702_84710dup, NG_046951.1:g.84701_84710dup, NG_046951.1:g.84700_84710dup, NG_046951.1:g.84710_84711insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            6.

            rs1491417325 has merged into rs71310622 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GG>-,G,GGG,GGGG [Show Flanks]
              Chromosome:
              8:122782133 (GRCh38)
              8:123794372 (GRCh37)
              Canonical SPDI:
              NC_000008.11:122782125:GGGGGGGGG:GGGGGGG,NC_000008.11:122782125:GGGGGGGGG:GGGGGGGG,NC_000008.11:122782125:GGGGGGGGG:GGGGGGGGGG,NC_000008.11:122782125:GGGGGGGGG:GGGGGGGGGGG
              Gene:
              ZHX2 (Varview), LOC124902012 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GGGGGGGGGGG=0.0001/1 (ALFA)
              -=0.2208/1106 (1000Genomes)
              HGVS:
              7.

              rs1491409153 has merged into rs201581677 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                8:122846561 (GRCh38)
                8:123858800 (GRCh37)
                Canonical SPDI:
                NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                ZHX2 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTT=0./0 (ALFA)
                -=0.08355/322 (ALSPAC)
                HGVS:
                NC_000008.11:g.122846561_122846568del, NC_000008.11:g.122846562_122846568del, NC_000008.11:g.122846563_122846568del, NC_000008.11:g.122846564_122846568del, NC_000008.11:g.122846565_122846568del, NC_000008.11:g.122846566_122846568del, NC_000008.11:g.122846567_122846568del, NC_000008.11:g.122846568del, NC_000008.11:g.122846568dup, NC_000008.11:g.122846567_122846568dup, NC_000008.11:g.122846566_122846568dup, NC_000008.11:g.122846565_122846568dup, NC_000008.11:g.122846563_122846568dup, NC_000008.10:g.123858800_123858807del, NC_000008.10:g.123858801_123858807del, NC_000008.10:g.123858802_123858807del, NC_000008.10:g.123858803_123858807del, NC_000008.10:g.123858804_123858807del, NC_000008.10:g.123858805_123858807del, NC_000008.10:g.123858806_123858807del, NC_000008.10:g.123858807del, NC_000008.10:g.123858807dup, NC_000008.10:g.123858806_123858807dup, NC_000008.10:g.123858805_123858807dup, NC_000008.10:g.123858804_123858807dup, NC_000008.10:g.123858802_123858807dup, NG_046951.1:g.70213_70220del, NG_046951.1:g.70214_70220del, NG_046951.1:g.70215_70220del, NG_046951.1:g.70216_70220del, NG_046951.1:g.70217_70220del, NG_046951.1:g.70218_70220del, NG_046951.1:g.70219_70220del, NG_046951.1:g.70220del, NG_046951.1:g.70220dup, NG_046951.1:g.70219_70220dup, NG_046951.1:g.70218_70220dup, NG_046951.1:g.70217_70220dup, NG_046951.1:g.70215_70220dup, XM_047421589.1:c.-5441_-5434del, XM_047421589.1:c.-5440_-5434del, XM_047421589.1:c.-5439_-5434del, XM_047421589.1:c.-5438_-5434del, XM_047421589.1:c.-5437_-5434del, XM_047421589.1:c.-5436_-5434del, XM_047421589.1:c.-5435_-5434del, XM_047421589.1:c.-5434del, XM_047421589.1:c.-5434dup, XM_047421589.1:c.-5435_-5434dup, XM_047421589.1:c.-5436_-5434dup, XM_047421589.1:c.-5437_-5434dup, XM_047421589.1:c.-5439_-5434dup
                8.

                rs1491392360 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  8:122861035 (GRCh38)
                  8:123873274 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:122861034:CA:
                  Gene:
                  ZHX2 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00599/71 (ALFA)
                  -=0.00442/123 (TOMMO)
                  HGVS:
                  9.

                  rs1491368980 has merged into rs778419145 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GT>- [Show Flanks]
                    Chromosome:
                    8:122963877 (GRCh38)
                    8:123976117 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:122963875:TGT:T
                    Gene:
                    ZHX2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.004384/52 (ALFA)
                    -=0.000391/6 (TOMMO)
                    -=0.004432/1173 (TOPMED)
                    -=0.005465/35 (1000Genomes)
                    -=0.00866/741 (GnomAD)
                    -=0.014035/8 (NorthernSweden)
                    TG=0.453908/453 (GoNL)
                    HGVS:
                    10.

                    rs1491367560 has merged into rs201581677 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      8:122846561 (GRCh38)
                      8:123858800 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:122846549:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      ZHX2 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTT=0./0 (ALFA)
                      -=0.08355/322 (ALSPAC)
                      HGVS:
                      NC_000008.11:g.122846561_122846568del, NC_000008.11:g.122846562_122846568del, NC_000008.11:g.122846563_122846568del, NC_000008.11:g.122846564_122846568del, NC_000008.11:g.122846565_122846568del, NC_000008.11:g.122846566_122846568del, NC_000008.11:g.122846567_122846568del, NC_000008.11:g.122846568del, NC_000008.11:g.122846568dup, NC_000008.11:g.122846567_122846568dup, NC_000008.11:g.122846566_122846568dup, NC_000008.11:g.122846565_122846568dup, NC_000008.11:g.122846563_122846568dup, NC_000008.10:g.123858800_123858807del, NC_000008.10:g.123858801_123858807del, NC_000008.10:g.123858802_123858807del, NC_000008.10:g.123858803_123858807del, NC_000008.10:g.123858804_123858807del, NC_000008.10:g.123858805_123858807del, NC_000008.10:g.123858806_123858807del, NC_000008.10:g.123858807del, NC_000008.10:g.123858807dup, NC_000008.10:g.123858806_123858807dup, NC_000008.10:g.123858805_123858807dup, NC_000008.10:g.123858804_123858807dup, NC_000008.10:g.123858802_123858807dup, NG_046951.1:g.70213_70220del, NG_046951.1:g.70214_70220del, NG_046951.1:g.70215_70220del, NG_046951.1:g.70216_70220del, NG_046951.1:g.70217_70220del, NG_046951.1:g.70218_70220del, NG_046951.1:g.70219_70220del, NG_046951.1:g.70220del, NG_046951.1:g.70220dup, NG_046951.1:g.70219_70220dup, NG_046951.1:g.70218_70220dup, NG_046951.1:g.70217_70220dup, NG_046951.1:g.70215_70220dup, XM_047421589.1:c.-5441_-5434del, XM_047421589.1:c.-5440_-5434del, XM_047421589.1:c.-5439_-5434del, XM_047421589.1:c.-5438_-5434del, XM_047421589.1:c.-5437_-5434del, XM_047421589.1:c.-5436_-5434del, XM_047421589.1:c.-5435_-5434del, XM_047421589.1:c.-5434del, XM_047421589.1:c.-5434dup, XM_047421589.1:c.-5435_-5434dup, XM_047421589.1:c.-5436_-5434dup, XM_047421589.1:c.-5437_-5434dup, XM_047421589.1:c.-5439_-5434dup
                      11.

                      rs1491363637 has merged into rs35306891 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        8:122868708 (GRCh38)
                        8:123880947 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:122868698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        ZHX2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAA=0./0 (ALFA)
                        HGVS:
                        NC_000008.11:g.122868708_122868721del, NC_000008.11:g.122868711_122868721del, NC_000008.11:g.122868712_122868721del, NC_000008.11:g.122868713_122868721del, NC_000008.11:g.122868715_122868721del, NC_000008.11:g.122868716_122868721del, NC_000008.11:g.122868717_122868721del, NC_000008.11:g.122868718_122868721del, NC_000008.11:g.122868719_122868721del, NC_000008.11:g.122868720_122868721del, NC_000008.11:g.122868721del, NC_000008.11:g.122868721dup, NC_000008.11:g.122868720_122868721dup, NC_000008.11:g.122868719_122868721dup, NC_000008.11:g.122868718_122868721dup, NC_000008.11:g.122868712_122868721dup, NC_000008.10:g.123880947_123880960del, NC_000008.10:g.123880950_123880960del, NC_000008.10:g.123880951_123880960del, NC_000008.10:g.123880952_123880960del, NC_000008.10:g.123880954_123880960del, NC_000008.10:g.123880955_123880960del, NC_000008.10:g.123880956_123880960del, NC_000008.10:g.123880957_123880960del, NC_000008.10:g.123880958_123880960del, NC_000008.10:g.123880959_123880960del, NC_000008.10:g.123880960del, NC_000008.10:g.123880960dup, NC_000008.10:g.123880959_123880960dup, NC_000008.10:g.123880958_123880960dup, NC_000008.10:g.123880957_123880960dup, NC_000008.10:g.123880951_123880960dup, NG_046951.1:g.92360_92373del, NG_046951.1:g.92363_92373del, NG_046951.1:g.92364_92373del, NG_046951.1:g.92365_92373del, NG_046951.1:g.92367_92373del, NG_046951.1:g.92368_92373del, NG_046951.1:g.92369_92373del, NG_046951.1:g.92370_92373del, NG_046951.1:g.92371_92373del, NG_046951.1:g.92372_92373del, NG_046951.1:g.92373del, NG_046951.1:g.92373dup, NG_046951.1:g.92372_92373dup, NG_046951.1:g.92371_92373dup, NG_046951.1:g.92370_92373dup, NG_046951.1:g.92364_92373dup
                        12.

                        rs1491360866 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          8:122868698 (GRCh38)
                          8:123880937 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:122868697:CA:
                          Gene:
                          ZHX2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.00076/9 (ALFA)
                          -=0.00047/13 (TOMMO)
                          HGVS:
                          13.

                          rs1491347226 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            ->G
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1491326707 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->C,G [Show Flanks]
                              Chromosome:
                              8:122816447 (GRCh38)
                              8:123828687 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:122816447::C,NC_000008.11:122816447::G
                              Gene:
                              ZHX2 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.00014/5 (GnomAD)
                              HGVS:
                              15.

                              rs1491312981 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                AG>- [Show Flanks]
                                Chromosome:
                                8:122782125 (GRCh38)
                                8:123794364 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:122782124:AG:
                                Gene:
                                ZHX2 (Varview), LOC124902012 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                -=0.00003/1 (GnomAD)
                                HGVS:
                                16.

                                rs1491277687 has merged into rs71310627 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  8:122816461 (GRCh38)
                                  8:123828700 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:122816446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:122816446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:122816446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:122816446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:122816446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:122816446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:122816446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:122816446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:122816446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  ZHX2 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTTTTTTT=0./0 (ALFA)
                                  -=0.3668/1837 (1000Genomes)
                                  HGVS:
                                  NC_000008.11:g.122816461_122816464del, NC_000008.11:g.122816462_122816464del, NC_000008.11:g.122816463_122816464del, NC_000008.11:g.122816464del, NC_000008.11:g.122816464dup, NC_000008.11:g.122816463_122816464dup, NC_000008.11:g.122816462_122816464dup, NC_000008.11:g.122816459_122816464dup, NC_000008.11:g.122816457_122816464dup, NC_000008.10:g.123828700_123828703del, NC_000008.10:g.123828701_123828703del, NC_000008.10:g.123828702_123828703del, NC_000008.10:g.123828703del, NC_000008.10:g.123828703dup, NC_000008.10:g.123828702_123828703dup, NC_000008.10:g.123828701_123828703dup, NC_000008.10:g.123828698_123828703dup, NC_000008.10:g.123828696_123828703dup, NG_046951.1:g.40113_40116del, NG_046951.1:g.40114_40116del, NG_046951.1:g.40115_40116del, NG_046951.1:g.40116del, NG_046951.1:g.40116dup, NG_046951.1:g.40115_40116dup, NG_046951.1:g.40114_40116dup, NG_046951.1:g.40111_40116dup, NG_046951.1:g.40109_40116dup
                                  17.

                                  rs1491266986 has merged into rs71310622 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GG>-,G,GGG,GGGG [Show Flanks]
                                    Chromosome:
                                    8:122782133 (GRCh38)
                                    8:123794372 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:122782125:GGGGGGGGG:GGGGGGG,NC_000008.11:122782125:GGGGGGGGG:GGGGGGGG,NC_000008.11:122782125:GGGGGGGGG:GGGGGGGGGG,NC_000008.11:122782125:GGGGGGGGG:GGGGGGGGGGG
                                    Gene:
                                    ZHX2 (Varview), LOC124902012 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GGGGGGGGGGG=0.0001/1 (ALFA)
                                    -=0.2208/1106 (1000Genomes)
                                    HGVS:
                                    18.

                                    rs1491250004 has merged into rs397795298 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTT [Show Flanks]
                                      Chromosome:
                                      8:122935551 (GRCh38)
                                      8:123947791 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:122935536:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:122935536:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:122935536:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:122935536:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:122935536:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:122935536:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:122935536:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:122935536:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
                                      Gene:
                                      ZHX2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTTTTTTTTTT=0./0 (ALFA)
                                      -=0.4834/2421 (1000Genomes)
                                      HGVS:
                                      NC_000008.11:g.122935551_122935553del, NC_000008.11:g.122935552_122935553del, NC_000008.11:g.122935553del, NC_000008.11:g.122935553dup, NC_000008.11:g.122935552_122935553dup, NC_000008.11:g.122935551_122935553dup, NC_000008.11:g.122935550_122935553dup, NC_000008.11:g.122935544_122935553dup, NC_000008.10:g.123947791_123947793del, NC_000008.10:g.123947792_123947793del, NC_000008.10:g.123947793del, NC_000008.10:g.123947793dup, NC_000008.10:g.123947792_123947793dup, NC_000008.10:g.123947791_123947793dup, NC_000008.10:g.123947790_123947793dup, NC_000008.10:g.123947784_123947793dup, NG_046951.1:g.159203_159205del, NG_046951.1:g.159204_159205del, NG_046951.1:g.159205del, NG_046951.1:g.159205dup, NG_046951.1:g.159204_159205dup, NG_046951.1:g.159203_159205dup, NG_046951.1:g.159202_159205dup, NG_046951.1:g.159196_159205dup
                                      19.

                                      rs1491247617 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->G [Show Flanks]
                                        Chromosome:
                                        8:122945877 (GRCh38)
                                        8:123958118 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:122945877:GGGG:GGGGG
                                        Gene:
                                        ZHX2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GGGGG=0.000071/1 (ALFA)
                                        G=0.000014/2 (GnomAD)
                                        G=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1491240015 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CT>- [Show Flanks]
                                          Chromosome:
                                          8:122816446 (GRCh38)
                                          8:123828685 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:122816444:TCT:T
                                          Gene:
                                          ZHX2 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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