Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199757347
rs199757347
SPINK5
T 0.700 CausalMutation CLINVAR Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation. 26865388

2016
dbSNP: rs199757347
rs199757347
SPINK5
T 0.700 CausalMutation CLINVAR The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. 11511292

2001