THOC6, THO complex 6, 79228

N. diseases: 31; N. variants: 11
Disease: Sunken eyes ×
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: rs138632121
rs138632121 		0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs200426926
rs200426926 		0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0