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1.

rs3736544 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G [Show Flanks]
    Chromosome:
    4:55443825 (GRCh38)
    4:56309992 (GRCh37)
    Canonical SPDI:
    NC_000004.12:55443824:A:C,NC_000004.12:55443824:A:G
    Gene:
    CLOCK (Varview), TMEM165 (Varview)
    Functional Consequence:
    synonymous_variant,missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.3487874/36013 (ALFA)
    A=0.1730769/9 (Siberian)
    A=0.1904762/96 (SGDP_PRJ)
    A=0.2118434/16406 (TOMMO)
    A=0.2491197/283 (Daghestan)
    A=0.2515152/83 (HapMap)
    A=0.2543668/466 (Korea1K)
    A=0.2556314/749 (KOREAN)
    A=0.2582965/1868 (Korea4K)
    A=0.2588832/204 (PRJEB37584)
    A=0.2769569/1387 (1000Genomes)
    A=0.278248/21892 (PAGE_STUDY)
    A=0.2782636/1782 (1000Genomes_30X)
    A=0.28125/1260 (Estonian)
    A=0.2993421/91 (FINRISK)
    A=0.3009259/65 (Qatari)
    A=0.3042145/36914 (ExAC)
    A=0.3101236/46214 (GnomAD_genomes)
    A=0.317734/84101 (TOPMED)
    A=0.3387758/474633 (GnomAD_exomes)
    A=0.341304/4439 (GoESP)
    A=0.3540992/1313 (TWINSUK)
    A=0.3576779/191 (MGP)
    A=0.3578101/1379 (ALSPAC)
    A=0.3597194/359 (GoNL)
    A=0.362013/223 (Vietnamese)
    A=0.375/15 (GENOME_DK)
    A=0.3966667/238 (NorthernSweden)
    HGVS:
    NC_000004.12:g.55443825A>C, NC_000004.12:g.55443825A>G, NC_000004.11:g.56309992A>C, NC_000004.11:g.56309992A>G, NG_032881.2:g.52870A>C, NG_032881.2:g.52870A>G, NM_004898.4:c.1764T>G, NM_004898.4:c.1764T>C, NM_004898.3:c.1764T>G, NM_004898.3:c.1764T>C, XM_005265787.3:c.1764T>G, XM_005265787.3:c.1764T>C, XM_005265787.2:c.1764T>G, XM_005265787.2:c.1764T>C, XM_005265787.1:c.1764T>G, XM_005265787.1:c.1764T>C, XM_011534411.3:c.1764T>G, XM_011534411.3:c.1764T>C, XM_011534411.2:c.1764T>G, XM_011534411.2:c.1764T>C, XM_011534411.1:c.1764T>G, XM_011534411.1:c.1764T>C, XM_011534410.3:c.1764T>G, XM_011534410.3:c.1764T>C, XM_011534410.2:c.1764T>G, XM_011534410.2:c.1764T>C, XM_011534410.1:c.1764T>G, XM_011534410.1:c.1764T>C, NM_001267843.2:c.1764T>G, NM_001267843.2:c.1764T>C, NM_001267843.1:c.1764T>G, NM_001267843.1:c.1764T>C, XM_024454284.2:c.1764T>G, XM_024454284.2:c.1764T>C, XM_024454284.1:c.1764T>G, XM_024454284.1:c.1764T>C, XM_017008854.2:c.1764T>G, XM_017008854.2:c.1764T>C, XM_017008854.1:c.1764T>G, XM_017008854.1:c.1764T>C, XM_047416434.1:c.1764T>G, XM_047416434.1:c.1764T>C, XM_047416433.1:c.1764T>G, XM_047416433.1:c.1764T>C, XM_047416437.1:c.1764T>G, XM_047416437.1:c.1764T>C, XM_047416436.1:c.1764T>G, XM_047416436.1:c.1764T>C, XM_047416438.1:c.1764T>G, XM_047416438.1:c.1764T>C, XM_047416431.1:c.1764T>G, XM_047416431.1:c.1764T>C, XM_047416435.1:c.1764T>G, XM_047416435.1:c.1764T>C, XM_047416439.1:c.1764T>G, XM_047416439.1:c.1764T>C, XM_047416432.1:c.1764T>G, XM_047416432.1:c.1764T>C, XM_047416440.1:c.1764T>G, XM_047416440.1:c.1764T>C, NP_004889.1:p.Asn588Lys, XP_005265844.1:p.Asn588Lys, XP_011532713.1:p.Asn588Lys, XP_011532712.1:p.Asn588Lys, NP_001254772.1:p.Asn588Lys, XP_024310052.1:p.Asn588Lys, XP_016864343.1:p.Asn588Lys, XP_047272390.1:p.Asn588Lys, XP_047272389.1:p.Asn588Lys, XP_047272393.1:p.Asn588Lys, XP_047272392.1:p.Asn588Lys, XP_047272394.1:p.Asn588Lys, XP_047272387.1:p.Asn588Lys, XP_047272391.1:p.Asn588Lys, XP_047272395.1:p.Asn588Lys, XP_047272388.1:p.Asn588Lys, XP_047272396.1:p.Asn588Lys

    PubMed

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