ANK1, ankyrin 1, 286

N. diseases: 166; N. variants: 49
Disease: Hereditary spherocytosis ×
Source: ALL
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: rs750820522
rs750820522 		1.000 0.080 8 41688541 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017