TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Nystagmus ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554558365
rs1554558365 		0.925 0.120 8 93804851 inframe insertion -/TATGAA delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0