rs786204848, DDX58

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.
SINGLETON-MERTEN SYNDROME 2
CUI: C4225380
Disease: SINGLETON-MERTEN SYNDROME 2
2 0.882 0.040 9 32488884 missense variant C/A snv 0.800 0
Abnormality of the skeletal system
CUI: C4021790
Disease: Abnormality of the skeletal system
18 0.882 0.040 9 32488884 missense variant C/A snv 0.010 1.000 1 2015 2015
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
428 0.882 0.040 9 32488884 missense variant C/A snv 0.010 1.000 1 2018 2018
Glaucoma
CUI: C0017601
Disease: Glaucoma
198 0.882 0.040 9 32488884 missense variant C/A snv 0.010 1.000 1 2015 2015