SPTB, spectrin beta, erythrocytic, 6710
N. diseases: 66; N. variants: 34
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. | 19538529 | 2009 | |||||||
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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 | |||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | beta-Spectrin S(ta) Bárbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism. | 11703334 | 2001 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Hereditary spherocytosis with spectrin deficiency related to null mutations of the beta-spectrin gene. | 9714702 | 1998 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. | 8844207 | 1996 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. | 7883966 | 1995 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR |