rs1318358361, ARID1B

N. diseases: 13
Disease: Brachycephaly ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
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
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
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