Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519451
rs1057519451
NRXN3 ; LOC105370589
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519451
rs1057519451
NRXN3 ; LOC105370589
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR