rs1057518921, MED12

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Absent speech
CUI: C1854882
Disease: Absent speech
72 1.000 X 71132465 missense variant G/A snv 0.700 0
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 1.000 X 71132465 missense variant G/A snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 1.000 X 71132465 missense variant G/A snv 0.700 0
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 1.000 X 71132465 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 1.000 X 71132465 missense variant G/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 1.000 X 71132465 missense variant G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 X 71132465 missense variant G/A snv 0.700 0