TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Coloboma of iris ×
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: C0240063
Disease: Coloboma of iris
Coloboma of iris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs765468645
rs765468645 		0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0