Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691490
rs1131691490
SPINK5
A 0.700 CausalMutation CLINVAR Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. 11841556

2002
dbSNP: rs1131691490
rs1131691490
SPINK5
A 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