APOB, apolipoprotein B, 338
N. diseases: 339; N. variants: 122
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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CCTAAG | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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ACC | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.040 | GeneticVariation | BEFREE | FHBL due to R463W apoB mutation is a cause of intestinal fat accumulation and postprandial lipid absorption impairment. | 19344897 | 2009 | |||||||
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0.040 | GeneticVariation | BEFREE | Only a single amino acid substitution (R463W) has been reported as the cause of FHBL. | 17570373 | 2007 | |||||||
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0.040 | GeneticVariation | BEFREE | We reported the first missense APOB mutation, R463W, in an FHBL kindred (Burnett, J. R., Shan, J., Miskie, B. | 17588943 | 2007 | |||||||
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0.040 | GeneticVariation | BEFREE | Heterozygotes for R463W had the typical FHBL phenotype, whereas homozygotes had barely detectable apoB-100. | 12551903 | 2003 |