Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778638622
rs778638622
VDR
CUI: C0002170
Disease: Alopecia
Alopecia 		0.010 GeneticVariation BEFREE Two different homozygous mutations in the VDR gene were identified in 6 patients: the p.K45E mutation located in the DNA-binding domain (5 patients with alopecia) and a novel p.T415R mutation located in the ligand-binding domain. 28013309

2017