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: rs75267011
rs75267011
1.000 0.120 2 96761706 missense variant G/A snv
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.800 1.000 2 2009 2009