Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692272
rs1131692272
AFF3
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692272
rs1131692272
AFF3
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692272
rs1131692272
AFF3
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692272
rs1131692272
AFF3
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692272
rs1131692272
AFF3
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692272
rs1131692272
AFF3
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692272
rs1131692272
AFF3
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692272
rs1131692272
AFF3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 CausalMutation CLINVAR