Variant "LRP1:c.300C>T(p.Asp100Asp)"
Search result: 1 record
Variant information
Gene:
LRP1 
Variant:
LRP1:c.300C>T(p.Asp100Asp) 
Genomic location:
chr12:57535266(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_002332.2:c.300C>T(p.Asp100Asp)
pseudogene NR_131938.1:n.*3137G>A
dbSNP ID:
rs1799986  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Frailty Measurement (EFO_0009885)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.0065 
    Effect:
    The genetic variants of the four genes are associated with the frailty index
    Reference:
    PMID26396182
    Title:
    Genetic variant of Interleukin-18 gene is associated with the Frailty Index in the English Longitudinal Study of Ageing.
    Species studied:
    Human
    Abstract:
    The term frailty refers to a condition of increased vulnerability to stressors among older people, leading to a decline in homeostatic reserve. Frailty often leads to falls, hospitalisation and mortality, hence its importance for the delivery of health care to older adults. The pathophysiological mechanisms behind frailty are not well understood, but the decreased steroid-hormone production and elevated chronic systemic inflammation of older people appear to be major contributors.