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1.

rs17880989 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    14:22844424 (GRCh38)
    14:23313633 (GRCh37)
    Canonical SPDI:
    NC_000014.9:22844423:G:A
    Gene:
    MMP14 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.022544/5388 (ALFA)
    A=0.004422/348 (PAGE_STUDY)
    A=0.004997/25 (1000Genomes)
    A=0.009868/3 (FINRISK)
    A=0.012909/3417 (TOPMED)
    A=0.013109/7 (MGP)
    A=0.015261/2140 (GnomAD)
    A=0.015531/202 (GoESP)
    A=0.016154/4062 (GnomAD_exomes)
    A=0.017689/15 (HapMap)
    A=0.018113/2199 (ExAC)
    A=0.020496/76 (TWINSUK)
    A=0.021796/84 (ALSPAC)
    A=0.022044/22 (GoNL)
    A=0.03817/171 (Estonian)
    A=0.05/2 (GENOME_DK)
    A=0.058333/35 (NorthernSweden)
    G=0.5/1 (SGDP_PRJ)
    HGVS:

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