Gene: PGAP3 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312812
rs869312812
PGAP3
TG 0.700 CausalMutation CLINVAR PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. 28390064

2018
dbSNP: rs869312812
rs869312812
PGAP3
TG 0.700 CausalMutation CLINVAR Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. 27120253

2016