Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907141
rs387907141
T 0.700 CausalMutation CLINVAR

dbSNP: rs1318358361
rs1318358361
0.020 GeneticVariation BEFREE Suboptimal morphological and mental outcomes can be expected in patients with nonsyndromic brachycephaly who carry the FGFR3 P250R mutation. 12087222

2002

dbSNP: rs1318358361
rs1318358361
0.020 GeneticVariation BEFREE Hence, while 68% of females carrying the P250R mutation showed brachycephaly, only 35% of males had the same phenotype. 9950359

1999