Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145303331
rs145303331
PIGL
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.810 GeneticVariation BEFREE We report a CHIME</span> syndrome patient who harbors a missense mutation c.500T > C (p.Leu167Pro) and a large deletion involving the 5' untranslated region and part of exon 1 of PIGL. 29473937

2019