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: rs121918648
rs121918648
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2 		G 0.700 GeneticVariation CLINVAR Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. 8844207 1996
dbSNP: rs121918648
rs121918648
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C2674219
Disease:
SPHEROCYTOSIS, HEREDITARY, 2 		G 0.700 GeneticVariation CLINVAR Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. 7883966 1995