rs778791846, SMO

N. diseases: 4
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.
Cataract
CUI: C0086543
Disease: Cataract
124 0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05 0.010 1.000 1 2019 2019
Congenital corneal opacity
CUI: C0344535
Disease: Congenital corneal opacity
2 0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05 0.010 1.000 1 2019 2019
Irido-corneal dysgenesis
CUI: C0266525
Disease: Irido-corneal dysgenesis
2 0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05 0.010 1.000 1 2019 2019
Morning glory syndrome
CUI: C0549307
Disease: Morning glory syndrome
2 0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05 0.010 1.000 1 2019 2019