Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908387
rs121908387
SPINK5
0.710 GeneticVariation BEFREE DNA analysis showed that the patient harboured the compound heterozygous mutations R790X and 1220+1 G-->C in the SPINK5 gene, compatible with the diagnosis of Netherton syndrome (NS). 16120162

2005
dbSNP: rs121908387
rs121908387
SPINK5
T 0.710 CausalMutation CLINVAR