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1.

rs1800206 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    22:46218377 (GRCh38)
    22:46614274 (GRCh37)
    Canonical SPDI:
    NC_000022.11:46218376:C:G
    Gene:
    PPARA (Varview)
    Functional Consequence:
    synonymous_variant,missense_variant,coding_sequence_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.0568667/2930 (ALFA)
    G=0.0000646/5 (TOMMO)
    G=0.0002765/2 (Korea4K)
    G=0.0005459/1 (Korea1K)
    G=0.0083799/3 (PharmGKB)
    G=0.0152439/5 (HapMap)
    G=0.0227636/114 (1000Genomes)
    G=0.0232667/149 (1000Genomes_30X)
    G=0.025/1 (GENOME_DK)
    G=0.0286037/2251 (PAGE_STUDY)
    G=0.0316667/19 (NorthernSweden)
    G=0.0324074/7 (Qatari)
    G=0.0361842/11 (FINRISK)
    G=0.0395089/177 (Estonian)
    G=0.0417426/6228 (GnomAD_genomes)
    G=0.0424594/5155 (ExAC)
    G=0.0436057/11542 (TOPMED)
    G=0.0590928/82812 (GnomAD_exomes)
    G=0.0661323/66 (GoNL)
    G=0.0679612/252 (TWINSUK)
    G=0.0692787/267 (ALSPAC)
    G=0.0861423/46 (MGP)
    C=0.25/2 (SGDP_PRJ)
    C=0.5/1 (Siberian)
    HGVS:
    NC_000022.11:g.46218377C>G, NC_000022.10:g.46614274C>G, NG_012204.2:g.72844C>G, NM_005036.6:c.484C>G, NM_005036.5:c.484C>G, NM_005036.4:c.484C>G, NM_001001928.4:c.484C>G, NM_001001928.3:c.484C>G, NM_001001928.2:c.484C>G, NM_001362873.3:c.484C>G, NM_001362873.2:c.484C>G, NM_001362873.1:c.484C>G, NM_001001929.3:c.484C>G, NM_001001929.2:c.484C>G, NM_001001929.1:c.484C>G, NM_001362872.2:c.484C>G, NM_001362872.1:c.484C>G, NM_001393943.1:c.484C>G, NM_001393945.1:c.484C>G, NM_001393944.1:c.484C>G, NM_001393942.1:c.484C>G, NM_001393946.1:c.484C>G, NM_001393941.1:c.484C>G, NM_001393947.1:c.484C>G, XM_011530240.3:c.484C>G, XM_011530240.2:c.484C>G, XM_011530240.1:c.484C>G, XM_011530239.3:c.484C>G, XM_011530239.2:c.484C>G, XM_011530239.1:c.484C>G, NM_032644.3:c.484C>G, NM_001001930.2:c.484C>G, XM_017028839.2:c.78C>G, XM_017028839.1:c.78C>G, NM_032644.2:c.484C>G, XM_047441420.1:c.484C>G, XM_047441421.1:c.484C>G, XM_047441422.1:c.484C>G, XM_047441423.1:c.484C>G, XM_047441424.1:c.484C>G, XM_047441425.1:c.484C>G, XM_047441426.1:c.484C>G, XM_047441427.1:c.78C>G, NM_001001930.1:c.484C>G, XM_047441428.1:c.484C>G, XM_047441429.1:c.484C>G, XM_047441430.1:c.484C>G, NP_005027.2:p.Leu162Val, NP_001001928.1:p.Leu162Val, NP_001349802.1:p.Leu162Val, NP_001001929.1:p.Leu162Val, NP_001349801.1:p.Leu162Val, NP_001380872.1:p.Leu162Val, NP_001380874.1:p.Leu162Val, NP_001380873.1:p.Leu162Val, NP_001380871.1:p.Leu162Val, NP_001380875.1:p.Leu162Val, NP_001380870.1:p.Leu162Val, NP_001380876.1:p.Leu162Val, XP_011528542.1:p.Leu162Val, XP_011528541.1:p.Leu162Val, XP_047297376.1:p.Leu162Val, XP_047297377.1:p.Leu162Val, XP_047297378.1:p.Leu162Val, XP_047297379.1:p.Leu162Val, XP_047297380.1:p.Leu162Val, XP_047297381.1:p.Leu162Val, XP_047297382.1:p.Leu162Val, XP_047297384.1:p.Leu162Val, XP_047297385.1:p.Leu162Val, XP_047297386.1:p.Leu162Val

    PubMed

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