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: rs121913112
1.000 0.250 4 1805561 missense variant G/A,C snp 4.8E-05; 4.0E-06 3.2E-05
Lacrimoauriculodentodigital syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases 0.800 1 2006 2006