SPTB, spectrin beta, erythrocytic, 6710

N. diseases: 66; N. variants: 34
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: rs1555366592
rs1555366592 		1.000 0.080 14 64767686 frameshift variant -/AA delins
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555366607
rs1555366607 		1.000 0.080 14 64767787 missense variant A/G snv
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1566754467
rs1566754467 		1.000 0.080 14 64782493 stop gained C/A snv
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0