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 Nucleotide

Items: 1 to 20 of 9110

1.

rs1491565626 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TG>- [Show Flanks]
    Chromosome:
    11:112093051 (GRCh38)
    11:111963775 (GRCh37)
    Canonical SPDI:
    NC_000011.10:112093050:TG:
    Gene:
    SDHD (Varview)
    Functional Consequence:
    intron_variant
    HGVS:

    2.

    rs1491340302 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      11:112083199 (GRCh38)
      11:111953923 (GRCh37)
      Canonical SPDI:
      NC_000011.10:112083197:TAT:T
      Gene:
      NKAPD1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000054/1 (ALFA)
      -=0.000068/9 (GnomAD)
      -=0.000229/1 (Estonian)
      HGVS:

      3.

      rs1491221150 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CC>- [Show Flanks]
        Chromosome:
        11:112121142 (GRCh38)
        11:111991865 (GRCh37)
        Canonical SPDI:
        NC_000011.10:112121141:CC:
        Validated:
        by frequency,by cluster
        MAF:
        -=0.00024/16 (GnomAD)
        HGVS:

        4.

        rs1491211725 has merged into rs5794776 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
          Chromosome:
          11:112118299 (GRCh38)
          11:111989022 (GRCh37)
          Canonical SPDI:
          NC_000011.10:112118289:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:112118289:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:112118289:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:112118289:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:112118289:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:112118289:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:112118289:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:112118289:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:112118289:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:112118289:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAA=0./0 (ALFA)
          A=0.0111/41 (TWINSUK)
          A=0.0114/44 (ALSPAC)
          A=0.1809/906 (1000Genomes)
          HGVS:
          NC_000011.10:g.112118299_112118306del, NC_000011.10:g.112118300_112118306del, NC_000011.10:g.112118302_112118306del, NC_000011.10:g.112118303_112118306del, NC_000011.10:g.112118304_112118306del, NC_000011.10:g.112118305_112118306del, NC_000011.10:g.112118306del, NC_000011.10:g.112118306dup, NC_000011.10:g.112118305_112118306dup, NC_000011.10:g.112118304_112118306dup, NC_000011.9:g.111989022_111989029del, NC_000011.9:g.111989023_111989029del, NC_000011.9:g.111989025_111989029del, NC_000011.9:g.111989026_111989029del, NC_000011.9:g.111989027_111989029del, NC_000011.9:g.111989028_111989029del, NC_000011.9:g.111989029del, NC_000011.9:g.111989029dup, NC_000011.9:g.111989028_111989029dup, NC_000011.9:g.111989027_111989029dup, NG_012337.3:g.36453_36460del, NG_012337.3:g.36454_36460del, NG_012337.3:g.36456_36460del, NG_012337.3:g.36457_36460del, NG_012337.3:g.36458_36460del, NG_012337.3:g.36459_36460del, NG_012337.3:g.36460del, NG_012337.3:g.36460dup, NG_012337.3:g.36459_36460dup, NG_012337.3:g.36458_36460dup

          5.

          rs1491175665 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->TA,TTA,TTTTTA [Show Flanks]
            Chromosome:
            11:112093051 (GRCh38)
            11:111963776 (GRCh37)
            Canonical SPDI:
            NC_000011.10:112093051::TA,NC_000011.10:112093051::TTA,NC_000011.10:112093051::TTTTTA
            Gene:
            SDHD (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTA=0./0 (ALFA)
            HGVS:

            6.

            rs1491043662 has merged into rs71301698 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              11:112084808 (GRCh38)
              11:111955532 (GRCh37)
              Canonical SPDI:
              NC_000011.10:112084799:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000011.10:112084799:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:112084799:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:112084799:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:112084799:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:112084799:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:112084799:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:112084799:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:112084799:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:112084799:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:112084799:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:112084799:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:112084799:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              TIMM8B (Varview), NKAPD1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTT=0./0 (ALFA)
              TTT=0.3/12 (GENOME_DK)
              HGVS:
              NC_000011.10:g.112084808_112084816del, NC_000011.10:g.112084809_112084816del, NC_000011.10:g.112084811_112084816del, NC_000011.10:g.112084813_112084816del, NC_000011.10:g.112084814_112084816del, NC_000011.10:g.112084815_112084816del, NC_000011.10:g.112084816del, NC_000011.10:g.112084816dup, NC_000011.10:g.112084815_112084816dup, NC_000011.10:g.112084814_112084816dup, NC_000011.10:g.112084813_112084816dup, NC_000011.10:g.112084812_112084816dup, NC_000011.10:g.112084811_112084816dup, NC_000011.9:g.111955532_111955540del, NC_000011.9:g.111955533_111955540del, NC_000011.9:g.111955535_111955540del, NC_000011.9:g.111955537_111955540del, NC_000011.9:g.111955538_111955540del, NC_000011.9:g.111955539_111955540del, NC_000011.9:g.111955540del, NC_000011.9:g.111955540dup, NC_000011.9:g.111955539_111955540dup, NC_000011.9:g.111955538_111955540dup, NC_000011.9:g.111955537_111955540dup, NC_000011.9:g.111955536_111955540dup, NC_000011.9:g.111955535_111955540dup, NG_012337.3:g.2962_2970del, NG_012337.3:g.2963_2970del, NG_012337.3:g.2965_2970del, NG_012337.3:g.2967_2970del, NG_012337.3:g.2968_2970del, NG_012337.3:g.2969_2970del, NG_012337.3:g.2970del, NG_012337.3:g.2970dup, NG_012337.3:g.2969_2970dup, NG_012337.3:g.2968_2970dup, NG_012337.3:g.2967_2970dup, NG_012337.3:g.2966_2970dup, NG_012337.3:g.2965_2970dup, NG_033145.1:g.6991_6999del, NG_033145.1:g.6992_6999del, NG_033145.1:g.6994_6999del, NG_033145.1:g.6996_6999del, NG_033145.1:g.6997_6999del, NG_033145.1:g.6998_6999del, NG_033145.1:g.6999del, NG_033145.1:g.6999dup, NG_033145.1:g.6998_6999dup, NG_033145.1:g.6997_6999dup, NG_033145.1:g.6996_6999dup, NG_033145.1:g.6995_6999dup, NG_033145.1:g.6994_6999dup, NM_012459.4:c.*487_*495del, NM_012459.4:c.*488_*495del, NM_012459.4:c.*490_*495del, NM_012459.4:c.*492_*495del, NM_012459.4:c.*493_*495del, NM_012459.4:c.*494_*495del, NM_012459.4:c.*495del, NM_012459.4:c.*495dup, NM_012459.4:c.*494_*495dup, NM_012459.4:c.*493_*495dup, NM_012459.4:c.*492_*495dup, NM_012459.4:c.*491_*495dup, NM_012459.4:c.*490_*495dup, NM_012459.2:c.*488_*496del, NM_012459.2:c.*489_*496del, NM_012459.2:c.*491_*496del, NM_012459.2:c.*493_*496del, NM_012459.2:c.*494_*496del, NM_012459.2:c.*495_*496del, NM_012459.2:c.*496del, NM_012459.2:c.*496dup, NM_012459.2:c.*495_*496dup, NM_012459.2:c.*494_*496dup, NM_012459.2:c.*493_*496dup, NM_012459.2:c.*492_*496dup, NM_012459.2:c.*491_*496dup, NM_018195.4:c.*1836_*1844del, NM_018195.4:c.*1837_*1844del, NM_018195.4:c.*1839_*1844del, NM_018195.4:c.*1841_*1844del, NM_018195.4:c.*1842_*1844del, NM_018195.4:c.*1843_*1844del, NM_018195.4:c.*1844del, NM_018195.4:c.*1844dup, NM_018195.4:c.*1843_*1844dup, NM_018195.4:c.*1842_*1844dup, NM_018195.4:c.*1841_*1844dup, NM_018195.4:c.*1840_*1844dup, NM_018195.4:c.*1839_*1844dup, NM_018195.3:c.*1836_*1844del, NM_018195.3:c.*1837_*1844del, NM_018195.3:c.*1839_*1844del, NM_018195.3:c.*1841_*1844del, NM_018195.3:c.*1842_*1844del, NM_018195.3:c.*1843_*1844del, NM_018195.3:c.*1844del, NM_018195.3:c.*1844dup, NM_018195.3:c.*1843_*1844dup, NM_018195.3:c.*1842_*1844dup, NM_018195.3:c.*1841_*1844dup, NM_018195.3:c.*1840_*1844dup, NM_018195.3:c.*1839_*1844dup, NR_103469.2:n.3385_3393del, NR_103469.2:n.3386_3393del, NR_103469.2:n.3388_3393del, NR_103469.2:n.3390_3393del, NR_103469.2:n.3391_3393del, NR_103469.2:n.3392_3393del, NR_103469.2:n.3393del, NR_103469.2:n.3393dup, NR_103469.2:n.3392_3393dup, NR_103469.2:n.3391_3393dup, NR_103469.2:n.3390_3393dup, NR_103469.2:n.3389_3393dup, NR_103469.2:n.3388_3393dup, NR_103469.1:n.3440_3448del, NR_103469.1:n.3441_3448del, NR_103469.1:n.3443_3448del, NR_103469.1:n.3445_3448del, NR_103469.1:n.3446_3448del, NR_103469.1:n.3447_3448del, NR_103469.1:n.3448del, NR_103469.1:n.3448dup, NR_103469.1:n.3447_3448dup, NR_103469.1:n.3446_3448dup, NR_103469.1:n.3445_3448dup, NR_103469.1:n.3444_3448dup, NR_103469.1:n.3443_3448dup, NM_001082970.2:c.*1836_*1844del, NM_001082970.2:c.*1837_*1844del, NM_001082970.2:c.*1839_*1844del, NM_001082970.2:c.*1841_*1844del, NM_001082970.2:c.*1842_*1844del, NM_001082970.2:c.*1843_*1844del, NM_001082970.2:c.*1844del, NM_001082970.2:c.*1844dup, NM_001082970.2:c.*1843_*1844dup, NM_001082970.2:c.*1842_*1844dup, NM_001082970.2:c.*1841_*1844dup, NM_001082970.2:c.*1840_*1844dup, NM_001082970.2:c.*1839_*1844dup, NM_001082970.1:c.*1836_*1844del, NM_001082970.1:c.*1837_*1844del, NM_001082970.1:c.*1839_*1844del, NM_001082970.1:c.*1841_*1844del, NM_001082970.1:c.*1842_*1844del, NM_001082970.1:c.*1843_*1844del, NM_001082970.1:c.*1844del, NM_001082970.1:c.*1844dup, NM_001082970.1:c.*1843_*1844dup, NM_001082970.1:c.*1842_*1844dup, NM_001082970.1:c.*1841_*1844dup, NM_001082970.1:c.*1840_*1844dup, NM_001082970.1:c.*1839_*1844dup, NM_001301019.2:c.*1836_*1844del, NM_001301019.2:c.*1837_*1844del, NM_001301019.2:c.*1839_*1844del, NM_001301019.2:c.*1841_*1844del, NM_001301019.2:c.*1842_*1844del, NM_001301019.2:c.*1843_*1844del, NM_001301019.2:c.*1844del, NM_001301019.2:c.*1844dup, NM_001301019.2:c.*1843_*1844dup, NM_001301019.2:c.*1842_*1844dup, NM_001301019.2:c.*1841_*1844dup, NM_001301019.2:c.*1840_*1844dup, NM_001301019.2:c.*1839_*1844dup, NM_001301019.1:c.*1836_*1844del, NM_001301019.1:c.*1837_*1844del, NM_001301019.1:c.*1839_*1844del, NM_001301019.1:c.*1841_*1844del, NM_001301019.1:c.*1842_*1844del, NM_001301019.1:c.*1843_*1844del, NM_001301019.1:c.*1844del, NM_001301019.1:c.*1844dup, NM_001301019.1:c.*1843_*1844dup, NM_001301019.1:c.*1842_*1844dup, NM_001301019.1:c.*1841_*1844dup, NM_001301019.1:c.*1840_*1844dup, NM_001301019.1:c.*1839_*1844dup, NM_001301021.2:c.*1836_*1844del, NM_001301021.2:c.*1837_*1844del, NM_001301021.2:c.*1839_*1844del, NM_001301021.2:c.*1841_*1844del, NM_001301021.2:c.*1842_*1844del, NM_001301021.2:c.*1843_*1844del, NM_001301021.2:c.*1844del, NM_001301021.2:c.*1844dup, NM_001301021.2:c.*1843_*1844dup, NM_001301021.2:c.*1842_*1844dup, NM_001301021.2:c.*1841_*1844dup, NM_001301021.2:c.*1840_*1844dup, NM_001301021.2:c.*1839_*1844dup, NM_001301021.1:c.*1836_*1844del, NM_001301021.1:c.*1837_*1844del, NM_001301021.1:c.*1839_*1844del, NM_001301021.1:c.*1841_*1844del, NM_001301021.1:c.*1842_*1844del, NM_001301021.1:c.*1843_*1844del, NM_001301021.1:c.*1844del, NM_001301021.1:c.*1844dup, NM_001301021.1:c.*1843_*1844dup, NM_001301021.1:c.*1842_*1844dup, NM_001301021.1:c.*1841_*1844dup, NM_001301021.1:c.*1840_*1844dup, NM_001301021.1:c.*1839_*1844dup, NM_001082969.2:c.*1836_*1844del, NM_001082969.2:c.*1837_*1844del, NM_001082969.2:c.*1839_*1844del, NM_001082969.2:c.*1841_*1844del, NM_001082969.2:c.*1842_*1844del, NM_001082969.2:c.*1843_*1844del, NM_001082969.2:c.*1844del, NM_001082969.2:c.*1844dup, NM_001082969.2:c.*1843_*1844dup, NM_001082969.2:c.*1842_*1844dup, NM_001082969.2:c.*1841_*1844dup, NM_001082969.2:c.*1840_*1844dup, NM_001082969.2:c.*1839_*1844dup, NM_001082969.1:c.*1836_*1844del, NM_001082969.1:c.*1837_*1844del, NM_001082969.1:c.*1839_*1844del, NM_001082969.1:c.*1841_*1844del, NM_001082969.1:c.*1842_*1844del, NM_001082969.1:c.*1843_*1844del, NM_001082969.1:c.*1844del, NM_001082969.1:c.*1844dup, NM_001082969.1:c.*1843_*1844dup, NM_001082969.1:c.*1842_*1844dup, NM_001082969.1:c.*1841_*1844dup, NM_001082969.1:c.*1840_*1844dup, NM_001082969.1:c.*1839_*1844dup, NM_001301017.2:c.*1836_*1844del, NM_001301017.2:c.*1837_*1844del, NM_001301017.2:c.*1839_*1844del, NM_001301017.2:c.*1841_*1844del, NM_001301017.2:c.*1842_*1844del, NM_001301017.2:c.*1843_*1844del, NM_001301017.2:c.*1844del, NM_001301017.2:c.*1844dup, NM_001301017.2:c.*1843_*1844dup, NM_001301017.2:c.*1842_*1844dup, NM_001301017.2:c.*1841_*1844dup, NM_001301017.2:c.*1840_*1844dup, NM_001301017.2:c.*1839_*1844dup, NM_001301017.1:c.*1836_*1844del, NM_001301017.1:c.*1837_*1844del, NM_001301017.1:c.*1839_*1844del, NM_001301017.1:c.*1841_*1844del, NM_001301017.1:c.*1842_*1844del, NM_001301017.1:c.*1843_*1844del, NM_001301017.1:c.*1844del, NM_001301017.1:c.*1844dup, NM_001301017.1:c.*1843_*1844dup, NM_001301017.1:c.*1842_*1844dup, NM_001301017.1:c.*1841_*1844dup, NM_001301017.1:c.*1840_*1844dup, NM_001301017.1:c.*1839_*1844dup, XM_047427197.1:c.*1836_*1844del, XM_047427197.1:c.*1837_*1844del, XM_047427197.1:c.*1839_*1844del, XM_047427197.1:c.*1841_*1844del, XM_047427197.1:c.*1842_*1844del, XM_047427197.1:c.*1843_*1844del, XM_047427197.1:c.*1844del, XM_047427197.1:c.*1844dup, XM_047427197.1:c.*1843_*1844dup, XM_047427197.1:c.*1842_*1844dup, XM_047427197.1:c.*1841_*1844dup, XM_047427197.1:c.*1840_*1844dup, XM_047427197.1:c.*1839_*1844dup, XM_047427198.1:c.*1836_*1844del, XM_047427198.1:c.*1837_*1844del, XM_047427198.1:c.*1839_*1844del, XM_047427198.1:c.*1841_*1844del, XM_047427198.1:c.*1842_*1844del, XM_047427198.1:c.*1843_*1844del, XM_047427198.1:c.*1844del, XM_047427198.1:c.*1844dup, XM_047427198.1:c.*1843_*1844dup, XM_047427198.1:c.*1842_*1844dup, XM_047427198.1:c.*1841_*1844dup, XM_047427198.1:c.*1840_*1844dup, XM_047427198.1:c.*1839_*1844dup, NR_028383.1:n.1147_1155del, NR_028383.1:n.1148_1155del, NR_028383.1:n.1150_1155del, NR_028383.1:n.1152_1155del, NR_028383.1:n.1153_1155del, NR_028383.1:n.1154_1155del, NR_028383.1:n.1155del, NR_028383.1:n.1155dup, NR_028383.1:n.1154_1155dup, NR_028383.1:n.1153_1155dup, NR_028383.1:n.1152_1155dup, NR_028383.1:n.1151_1155dup, NR_028383.1:n.1150_1155dup

              7.

              rs1491035793 has merged into rs71463405 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                11:112119942 (GRCh38)
                11:111990665 (GRCh37)
                Canonical SPDI:
                NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112119931:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAAA=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                NC_000011.10:g.112119942_112119952del, NC_000011.10:g.112119946_112119952del, NC_000011.10:g.112119948_112119952del, NC_000011.10:g.112119949_112119952del, NC_000011.10:g.112119950_112119952del, NC_000011.10:g.112119951_112119952del, NC_000011.10:g.112119952del, NC_000011.10:g.112119952dup, NC_000011.10:g.112119951_112119952dup, NC_000011.10:g.112119950_112119952dup, NC_000011.10:g.112119949_112119952dup, NC_000011.10:g.112119948_112119952dup, NC_000011.10:g.112119947_112119952dup, NC_000011.10:g.112119946_112119952dup, NC_000011.10:g.112119944_112119952dup, NC_000011.9:g.111990665_111990675del, NC_000011.9:g.111990669_111990675del, NC_000011.9:g.111990671_111990675del, NC_000011.9:g.111990672_111990675del, NC_000011.9:g.111990673_111990675del, NC_000011.9:g.111990674_111990675del, NC_000011.9:g.111990675del, NC_000011.9:g.111990675dup, NC_000011.9:g.111990674_111990675dup, NC_000011.9:g.111990673_111990675dup, NC_000011.9:g.111990672_111990675dup, NC_000011.9:g.111990671_111990675dup, NC_000011.9:g.111990670_111990675dup, NC_000011.9:g.111990669_111990675dup, NC_000011.9:g.111990667_111990675dup, NG_012337.3:g.38096_38106del, NG_012337.3:g.38100_38106del, NG_012337.3:g.38102_38106del, NG_012337.3:g.38103_38106del, NG_012337.3:g.38104_38106del, NG_012337.3:g.38105_38106del, NG_012337.3:g.38106del, NG_012337.3:g.38106dup, NG_012337.3:g.38105_38106dup, NG_012337.3:g.38104_38106dup, NG_012337.3:g.38103_38106dup, NG_012337.3:g.38102_38106dup, NG_012337.3:g.38101_38106dup, NG_012337.3:g.38100_38106dup, NG_012337.3:g.38098_38106dup

                8.

                rs1491033300 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GA>- [Show Flanks]
                  Chromosome:
                  11:112108931 (GRCh38)
                  11:111979655 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:112108929:AGA:A
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000506/6 (ALFA)
                  -=0.000256/35 (GnomAD)
                  HGVS:

                  9.

                  rs1491008065 has merged into rs61569317 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    11:112100280 (GRCh38)
                    11:111971004 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:112100268:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAAAAA=0./0 (ALFA)
                    HGVS:
                    NC_000011.10:g.112100280_112100288del, NC_000011.10:g.112100283_112100288del, NC_000011.10:g.112100284_112100288del, NC_000011.10:g.112100285_112100288del, NC_000011.10:g.112100287_112100288del, NC_000011.10:g.112100288del, NC_000011.10:g.112100288dup, NC_000011.10:g.112100287_112100288dup, NC_000011.10:g.112100286_112100288dup, NC_000011.10:g.112100285_112100288dup, NC_000011.10:g.112100284_112100288dup, NC_000011.10:g.112100283_112100288dup, NC_000011.10:g.112100282_112100288dup, NC_000011.10:g.112100281_112100288dup, NC_000011.10:g.112100280_112100288dup, NC_000011.10:g.112100279_112100288dup, NC_000011.10:g.112100278_112100288dup, NC_000011.10:g.112100277_112100288dup, NC_000011.9:g.111971004_111971012del, NC_000011.9:g.111971007_111971012del, NC_000011.9:g.111971008_111971012del, NC_000011.9:g.111971009_111971012del, NC_000011.9:g.111971011_111971012del, NC_000011.9:g.111971012del, NC_000011.9:g.111971012dup, NC_000011.9:g.111971011_111971012dup, NC_000011.9:g.111971010_111971012dup, NC_000011.9:g.111971009_111971012dup, NC_000011.9:g.111971008_111971012dup, NC_000011.9:g.111971007_111971012dup, NC_000011.9:g.111971006_111971012dup, NC_000011.9:g.111971005_111971012dup, NC_000011.9:g.111971004_111971012dup, NC_000011.9:g.111971003_111971012dup, NC_000011.9:g.111971002_111971012dup, NC_000011.9:g.111971001_111971012dup, NG_012337.3:g.18434_18442del, NG_012337.3:g.18437_18442del, NG_012337.3:g.18438_18442del, NG_012337.3:g.18439_18442del, NG_012337.3:g.18441_18442del, NG_012337.3:g.18442del, NG_012337.3:g.18442dup, NG_012337.3:g.18441_18442dup, NG_012337.3:g.18440_18442dup, NG_012337.3:g.18439_18442dup, NG_012337.3:g.18438_18442dup, NG_012337.3:g.18437_18442dup, NG_012337.3:g.18436_18442dup, NG_012337.3:g.18435_18442dup, NG_012337.3:g.18434_18442dup, NG_012337.3:g.18433_18442dup, NG_012337.3:g.18432_18442dup, NG_012337.3:g.18431_18442dup

                    10.

                    rs1490963880 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:112120281 (GRCh38)
                      11:111991004 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:112120280:C:T
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1490923152 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:112082158 (GRCh38)
                        11:111952882 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:112082157:G:A
                        Gene:
                        NKAPD1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000021/3 (GnomAD)
                        HGVS:

                        12.

                        rs1490837759 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:112101262 (GRCh38)
                          11:111971986 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:112101261:G:A
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490832628 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            11:112090185 (GRCh38)
                            11:111960909 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:112090184:A:G
                            Gene:
                            SDHD (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000014/2 (GnomAD)
                            HGVS:

                            14.

                            rs1490766237 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              11:112098640 (GRCh38)
                              11:111969364 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:112098639:G:T
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:

                              15.

                              rs1490435953 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:112119030 (GRCh38)
                                11:111989753 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:112119029:C:T
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1490420740 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  11:112119212 (GRCh38)
                                  11:111989935 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:112119211:C:G
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000447/2 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  G=0.000446/2 (Estonian)
                                  HGVS:

                                  17.

                                  rs1490409850 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:112113573 (GRCh38)
                                    11:111984297 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:112113572:G:A
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000017/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490405668 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:112117430 (GRCh38)
                                      11:111988153 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:112117429:C:T
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490358621 has merged into rs143047032 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
                                        Chromosome:
                                        11:112113498 (GRCh38)
                                        11:111984222 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:112113484:ATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        ATATATATATATATA=0./0 (ALFA)
                                        HGVS:
                                        NC_000011.10:g.112113486TA[6], NC_000011.10:g.112113486TA[7], NC_000011.10:g.112113486TA[8], NC_000011.10:g.112113486TA[9], NC_000011.10:g.112113486TA[10], NC_000011.10:g.112113486TA[11], NC_000011.10:g.112113486TA[12], NC_000011.10:g.112113486TA[13], NC_000011.10:g.112113486TA[14], NC_000011.10:g.112113486TA[16], NC_000011.10:g.112113486TA[17], NC_000011.10:g.112113486TA[18], NC_000011.10:g.112113486TA[19], NC_000011.10:g.112113486TA[20], NC_000011.10:g.112113486TA[21], NC_000011.10:g.112113486TA[22], NC_000011.10:g.112113486TA[23], NC_000011.10:g.112113486TA[24], NC_000011.10:g.112113486TA[25], NC_000011.10:g.112113486TA[26], NC_000011.10:g.112113486TA[27], NC_000011.9:g.111984210TA[6], NC_000011.9:g.111984210TA[7], NC_000011.9:g.111984210TA[8], NC_000011.9:g.111984210TA[9], NC_000011.9:g.111984210TA[10], NC_000011.9:g.111984210TA[11], NC_000011.9:g.111984210TA[12], NC_000011.9:g.111984210TA[13], NC_000011.9:g.111984210TA[14], NC_000011.9:g.111984210TA[16], NC_000011.9:g.111984210TA[17], NC_000011.9:g.111984210TA[18], NC_000011.9:g.111984210TA[19], NC_000011.9:g.111984210TA[20], NC_000011.9:g.111984210TA[21], NC_000011.9:g.111984210TA[22], NC_000011.9:g.111984210TA[23], NC_000011.9:g.111984210TA[24], NC_000011.9:g.111984210TA[25], NC_000011.9:g.111984210TA[26], NC_000011.9:g.111984210TA[27], NG_012337.3:g.31640TA[6], NG_012337.3:g.31640TA[7], NG_012337.3:g.31640TA[8], NG_012337.3:g.31640TA[9], NG_012337.3:g.31640TA[10], NG_012337.3:g.31640TA[11], NG_012337.3:g.31640TA[12], NG_012337.3:g.31640TA[13], NG_012337.3:g.31640TA[14], NG_012337.3:g.31640TA[16], NG_012337.3:g.31640TA[17], NG_012337.3:g.31640TA[18], NG_012337.3:g.31640TA[19], NG_012337.3:g.31640TA[20], NG_012337.3:g.31640TA[21], NG_012337.3:g.31640TA[22], NG_012337.3:g.31640TA[23], NG_012337.3:g.31640TA[24], NG_012337.3:g.31640TA[25], NG_012337.3:g.31640TA[26], NG_012337.3:g.31640TA[27]

                                        20.

                                        rs1490217546 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:112083807 (GRCh38)
                                          11:111954531 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:112083806:G:A
                                          Gene:
                                          NKAPD1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000029/4 (GnomAD)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity