rs730882203, DMBX1

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.
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.851 0.080 1 46510953 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.080 1 46510953 missense variant C/T snv 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.851 0.080 1 46510953 missense variant C/T snv 0.700 0
Hyperopia
CUI: C0020490
Disease: Hyperopia
29 0.851 0.080 1 46510953 missense variant C/T snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.851 0.080 1 46510953 missense variant C/T snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.851 0.080 1 46510953 missense variant C/T snv 0.700 0