Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917820
rs121917820
CDSN ; PSORS1C1
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.010 GeneticVariation BEFREE Mutation analysis in the patient showed compound heterozygous mutations in exon 2 of CDSN, a nonsense mutation c.598C>T (p.[Gln200*]), previously associated with hypotrichosis simplex of the scalp, and a frame-shift mutation c.164_167dup (p.[Thr57Profs*6]), previously described in peeling skin disease. 31663161

2020