Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556013203
rs1556013203
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C0265339
Disease:
Borjeson-Forssman-Lehmann syndrome
AGG 0.700 CausalMutation CLINVAR