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1.

rs459552 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,G [Show Flanks]
    Chromosome:
    5:112841059 (GRCh38)
    5:112176756 (GRCh37)
    Canonical SPDI:
    NC_000005.10:112841058:T:A,NC_000005.10:112841058:T:G
    Gene:
    APC (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Clinical significance:
    benign,uncertain-significance,conflicting-interpretations-of-pathogenicity,other
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.2210108/20676 (ALFA)
    T=0.0786026/144 (Korea1K)
    T=0.0846416/248 (KOREAN)
    T=0.090708/656 (Korea4K)
    T=0.0940196/7279 (TOMMO)
    T=0.106599/84 (PRJEB37584)
    T=0.1077128/8477 (PAGE_STUDY)
    T=0.1140449/203 (HapMap)
    T=0.1245421/68 (SGDP_PRJ)
    T=0.125/5 (GENOME_DK)
    T=0.1286645/79 (Vietnamese)
    T=0.1321049/846 (1000Genomes_30X)
    T=0.1345847/674 (1000Genomes)
    T=0.1588953/42058 (TOPMED)
    T=0.1737425/2259 (GoESP)
    T=0.1759259/38 (Qatari)
    T=0.1795786/26782 (GnomAD_genomes)
    T=0.1923077/10 (Siberian)
    T=0.1963928/196 (GoNL)
    T=0.2018951/24418 (ExAC)
    T=0.221588/854 (ALSPAC)
    T=0.2238417/313087 (GnomAD_exomes)
    T=0.2397004/128 (MGP)
    T=0.2411003/894 (TWINSUK)
    T=0.285/171 (NorthernSweden)
    T=0.3118304/1397 (Estonian)
    T=0.3278146/99 (FINRISK)
    HGVS:
    NC_000005.10:g.112841059T>A, NC_000005.10:g.112841059T>G, NC_000005.9:g.112176756T>A, NC_000005.9:g.112176756T>G, NG_008481.4:g.153539T>A, NG_008481.4:g.153539T>G, NM_000038.6:c.5465T>A, NM_000038.6:c.5465T>G, NM_000038.5:c.5465T>A, NM_000038.5:c.5465T>G, NM_001127510.3:c.5465T>A, NM_001127510.3:c.5465T>G, NM_001127510.2:c.5465T>A, NM_001127510.2:c.5465T>G, NM_001127511.3:c.5411T>A, NM_001127511.3:c.5411T>G, NM_001127511.2:c.5411T>A, NM_001127511.2:c.5411T>G, NM_001354895.2:c.5465T>A, NM_001354895.2:c.5465T>G, NM_001354895.1:c.5465T>A, NM_001354895.1:c.5465T>G, NM_001354897.2:c.5495T>A, NM_001354897.2:c.5495T>G, NM_001354897.1:c.5495T>A, NM_001354897.1:c.5495T>G, NM_001354906.2:c.4616T>A, NM_001354906.2:c.4616T>G, NM_001354906.1:c.4616T>A, NM_001354906.1:c.4616T>G, NM_001354896.2:c.5519T>A, NM_001354896.2:c.5519T>G, NM_001354896.1:c.5519T>A, NM_001354896.1:c.5519T>G, NM_001354898.2:c.5390T>A, NM_001354898.2:c.5390T>G, NM_001354898.1:c.5390T>A, NM_001354898.1:c.5390T>G, NM_001354899.2:c.5381T>A, NM_001354899.2:c.5381T>G, NM_001354899.1:c.5381T>A, NM_001354899.1:c.5381T>G, NM_001354900.2:c.5342T>A, NM_001354900.2:c.5342T>G, NM_001354900.1:c.5342T>A, NM_001354900.1:c.5342T>G, NM_001354902.2:c.5192T>A, NM_001354902.2:c.5192T>G, NM_001354902.1:c.5192T>A, NM_001354902.1:c.5192T>G, NM_001354901.2:c.5288T>A, NM_001354901.2:c.5288T>G, NM_001354901.1:c.5288T>A, NM_001354901.1:c.5288T>G, NM_001354903.2:c.5162T>A, NM_001354903.2:c.5162T>G, NM_001354903.1:c.5162T>A, NM_001354903.1:c.5162T>G, NM_001354904.2:c.5087T>A, NM_001354904.2:c.5087T>G, NM_001354904.1:c.5087T>A, NM_001354904.1:c.5087T>G, NM_001354905.2:c.4985T>A, NM_001354905.2:c.4985T>G, NM_001354905.1:c.4985T>A, NM_001354905.1:c.4985T>G, NM_001407470.1:c.4616T>A, NM_001407470.1:c.4616T>G, NM_001407447.1:c.5519T>A, NM_001407447.1:c.5519T>G, NM_001407452.1:c.5435T>A, NM_001407452.1:c.5435T>G, NM_001407446.1:c.5549T>A, NM_001407446.1:c.5549T>G, NM_001407472.1:c.4313T>A, NM_001407472.1:c.4313T>G, NR_176366.1:n.5719T>A, NR_176366.1:n.5719T>G, NM_001407448.1:c.5519T>A, NM_001407448.1:c.5519T>G, NM_001407449.1:c.5519T>A, NM_001407449.1:c.5519T>G, NM_001407450.1:c.5465T>A, NM_001407450.1:c.5465T>G, NM_001407456.1:c.5216T>A, NM_001407456.1:c.5216T>G, NM_001407460.1:c.5162T>A, NM_001407460.1:c.5162T>G, NM_001407451.1:c.5444T>A, NM_001407451.1:c.5444T>G, NM_001407453.1:c.5288T>A, NM_001407453.1:c.5288T>G, NM_001407469.1:c.5078T>A, NM_001407469.1:c.5078T>G, NM_001407471.1:c.4313T>A, NM_001407471.1:c.4313T>G, NM_001407457.1:c.5216T>A, NM_001407457.1:c.5216T>G, NM_001407455.1:c.5216T>A, NM_001407455.1:c.5216T>G, NM_001407458.1:c.5162T>A, NM_001407458.1:c.5162T>G, NM_001407459.1:c.5162T>A, NM_001407459.1:c.5162T>G, NR_176365.1:n.5300T>A, NR_176365.1:n.5300T>G, NM_001407454.1:c.5216T>A, NM_001407454.1:c.5216T>G, NM_001407467.1:c.5078T>A, NM_001407467.1:c.5078T>G, NP_000029.2:p.Val1822Asp, NP_000029.2:p.Val1822Gly, NP_001120982.1:p.Val1822Asp, NP_001120982.1:p.Val1822Gly, NP_001120983.2:p.Val1804Asp, NP_001120983.2:p.Val1804Gly, NP_001341824.1:p.Val1822Asp, NP_001341824.1:p.Val1822Gly, NP_001341826.1:p.Val1832Asp, NP_001341826.1:p.Val1832Gly, NP_001341835.1:p.Val1539Asp, NP_001341835.1:p.Val1539Gly, NP_001341825.1:p.Val1840Asp, NP_001341825.1:p.Val1840Gly, NP_001341827.1:p.Val1797Asp, NP_001341827.1:p.Val1797Gly, NP_001341828.1:p.Val1794Asp, NP_001341828.1:p.Val1794Gly, NP_001341829.1:p.Val1781Asp, NP_001341829.1:p.Val1781Gly, NP_001341831.1:p.Val1731Asp, NP_001341831.1:p.Val1731Gly, NP_001341830.1:p.Val1763Asp, NP_001341830.1:p.Val1763Gly, NP_001341832.1:p.Val1721Asp, NP_001341832.1:p.Val1721Gly, NP_001341833.1:p.Val1696Asp, NP_001341833.1:p.Val1696Gly, NP_001341834.1:p.Val1662Asp, NP_001341834.1:p.Val1662Gly

    PubMed

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