Variant: rs397514692 

    present in Gene: NLRP1
    present in Chromosome: 17
    Position on Chromosome: 5583728
    Alleles of this Variant: A/G

rs397514692 in NLRP1 gene and PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING PMID 23349227 2013 Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.

PMID 27662089 2016 Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.