Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745732650
rs745732650
MMP2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.010 GeneticVariation BEFREE The cause of Apert syndrome is a single nucleotide substitution mutation (S252W or P253R) in fibroblast growth factor receptor 2 (FGFR2). 30251381

2018