Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138632121
rs138632121
HCFC1R1 ; THOC6
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		A 0.700 CausalMutation CLINVAR

dbSNP: rs200426926
rs200426926
THOC6 ; BICDL2
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		A 0.700 CausalMutation CLINVAR