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: rs121907922
rs121907922
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0