Table 3.
Disease | SNP | VarSome | Inheritance pattern | References | |
---|---|---|---|---|---|
| |||||
p.R595W_LDLR | FH | rs373371572 | Pathogenic | A.D. | Descamps et al., 2001 |
Chiou et al., 2010 | |||||
| |||||
p.R494Q_LRP5 | OPPG | rs121908664 | Pathogenic | A.R. | Gong et al., 2001 |
p.R494W_LRP5 | FEVR | N.A. | Pathogenic | A.R. | Ai et al., 2005 |
Abdel-Hamid et al., 2022 | |||||
| |||||
p.R752G_LRP5 | FEVR | rs121908674 | Pathogenic | A.R. | Jiao et al., 2004 |
p.R752W_LRP5 | OPPG/FEVR | N.A. | Pathogenic | A.R. | Alonso et al., 2015 |
Hull et al., 2019 | |||||
| |||||
p.R1188W_LRP5 | PCLD | rs141178995 | Pathogenic | A.D. | Cnossen et al., 2014 |
| |||||
p.R632H_LRP4 | SOST2 | N.A. | Likely Pathogenic | A.R. | Huybrechts et a., 2021 |
N.A. = Not applicable
A.D. =Autosomal Dominant
A.R. =Autosomal Recessive