Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918487
rs121918487
FGFR2
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121918494
rs121918494
FGFR2
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		C 0.700 GeneticVariation CLINVAR