rs765417606, MED12

N. diseases: 3
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 0.882 0.400 X 71124263 missense variant A/G snv 2.8E-05 8.6E-05 0.700 0
Lujan Fryns syndrome
CUI: C0796022
Disease: Lujan Fryns syndrome
3 0.882 0.400 X 71124263 missense variant A/G snv 2.8E-05 8.6E-05 0.700 0
Ohdo syndrome, Maat-Kievit-Brunner type
5 0.882 0.400 X 71124263 missense variant A/G snv 2.8E-05 8.6E-05 0.700 0