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: rs1021713187
rs1021713187
1.000 0.120 2 96799188 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018