Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519443
rs1057519443
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519443
rs1057519443
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519443
rs1057519443
CUI: C0038379
Disease: Strabismus
Strabismus
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519443
rs1057519443
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519443
rs1057519443
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519443
rs1057519443
CUI: C1843367
Disease: Poor school performance
Poor school performance
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519443
rs1057519443
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
G 0.700 CausalMutation CLINVAR