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.
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.882 0.120 X 43949887 missense variant G/A snv 0.700 0
Persistent Hyperplastic Primary Vitreous
CUI: C0266568
Disease: Persistent Hyperplastic Primary Vitreous
4 0.882 0.120 X 43949887 missense variant G/A snv 0.700 0
Severe myopia
CUI: C0271183
Disease: Severe myopia
116 0.882 0.120 X 43949887 missense variant G/A snv 0.700 0
Short frenulum of tongue
CUI: C0426501
Disease: Short frenulum of tongue
1 0.882 0.120 X 43949887 missense variant G/A snv 0.700 0