Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034395178
rs1034395178
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C4020847
Disease:
Abnormality of pelvic girdle bone morphology
A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822 2018