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: rs886040873
rs886040873
16 50779889 stop gained C/T snv
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0