Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518921
rs1057518921
MED12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518921
rs1057518921
MED12
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518921
rs1057518921
MED12
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518921
rs1057518921
MED12
CUI: C1854882
Disease: Absent speech
Absent speech 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518921
rs1057518921
MED12
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518921
rs1057518921
MED12
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518921
rs1057518921
MED12
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		A 0.700 GeneticVariation CLINVAR