SPTB, spectrin beta, erythrocytic, 6710

N. diseases: 66; N. variants: 34
Disease: ELLIPTOCYTOSIS 3 ×
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: rs367841692
rs367841692 		1.000 0.080 14 64767814 missense variant G/A;T snv 4.8E-05; 4.0E-06
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1990 1995