rs1057519381, MED12

N. diseases: 6
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.
FG syndrome
CUI: C0220769
Disease: FG syndrome
12 0.851 0.240 X 71124276 missense variant G/A snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.851 0.240 X 71124276 missense variant G/A snv 0.700 0
Morphological abnormality of the semicircular canal
CUI: C4023386
Disease: Morphological abnormality of the semicircular canal
2 0.851 0.240 X 71124276 missense variant G/A snv 0.700 0
Pierre Robin Syndrome
CUI: C0031900
Disease: Pierre Robin Syndrome
3 0.851 0.240 X 71124276 missense variant G/A snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.240 X 71124276 missense variant G/A snv 0.700 0
Skewed maternal X inactivation
CUI: C4022856
Disease: Skewed maternal X inactivation
1 0.851 0.240 X 71124276 missense variant G/A snv 0.700 0