Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518921
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518921
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057518921
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs1057518921
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 0
dbSNP: rs1057518921
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1057518921
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1057518921
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0