Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918646
rs121918646
SPTB
0.800 GeneticVariation UNIPROT Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. 19538529

2009
dbSNP: rs121918646
rs121918646
SPTB
0.800 GeneticVariation UNIPROT Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. 8102379

1993
dbSNP: rs121918646
rs121918646
SPTB
G 0.800 CausalMutation CLINVAR