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: rs28931591
rs28931591
0.882 0.160 20 63350560 missense variant G/A snv
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0