SPTB, spectrin beta, erythrocytic, 6710

N. diseases: 66; N. variants: 34
Disease: SPHEROCYTOSIS, HEREDITARY, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555370967
rs1555370967
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2 		G 0.700 CausalMutation CLINVAR Hereditary spherocytosis with spectrin deficiency related to null mutations of the beta-spectrin gene. 9714702 1998