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1.

rs6946698 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    7:94429419 (GRCh38)
    7:94058731 (GRCh37)
    Canonical SPDI:
    NC_000007.14:94429418:G:A
    Gene:
    COL1A2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.00913/8 (HapMap)
    HGVS:

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