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1.

rs328 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G [Show Flanks]
    Chromosome:
    8:19962213 (GRCh38)
    8:19819724 (GRCh37)
    Canonical SPDI:
    NC_000008.11:19962212:C:A,NC_000008.11:19962212:C:G
    Gene:
    LPL (Varview)
    Functional Consequence:
    stop_gained,coding_sequence_variant
    Clinical significance:
    benign,likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.103615/1158 (ALFA)
    G=0.066964/300 (Estonian)
    G=0.074074/16 (Qatari)
    G=0.07904/6220 (PAGE_STUDY)
    G=0.085/51 (NorthernSweden)
    G=0.086979/2728 (GnomAD)
    G=0.089712/11265 (TOPMED)
    G=0.091711/104 (Daghestan)
    G=0.092105/28 (FINRISK)
    G=0.092156/23148 (GnomAD_exomes)
    G=0.092452/463 (1000Genomes)
    G=0.093501/11340 (ExAC)
    G=0.097561/32 (HapMap)
    G=0.1/4 (GENOME_DK)
    G=0.106642/411 (ALSPAC)
    G=0.107875/400 (TWINSUK)
    G=0.118236/118 (GoNL)
    G=0.120819/354 (KOREAN)
    G=0.127036/78 (Vietnamese)
    G=0.151685/81 (MGP)
    C=0.473684/36 (SGDP_PRJ)
    C=0.5/3 (Siberian)
    HGVS:

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