Variant "SORT1:c.*1859C>T"
Search results: 2 records
Variant information
Gene:
CELSR2 
Variant:
SORT1:c.*1859C>T 
Genomic location:
chr1:109818530(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001408.2:c.*1859C>T
protein_coding NM_001032291.2:c.*4245G>A
protein_coding NM_001005290.3:c.*4213G>A
protein_coding NM_032636.7:c.*4245G>A
CELSR2-PSRC1:n.109818530C>T
Alias:
CELSR2:rs646776, SORT1:c.*1859C>T 
dbSNP ID:
rs646776  
GWAS trait:
granulins measurement,catalase measurement,repulsive guidance molecule A measurement,low density lipoprotein cholesterol measurement,C-reactive protein measurement,high density lipoprotein cholesterol measurement,coronary heart disease,lipid measurement,response to statin,total cholesterol measurement,blood protein measurement,progranulin measurement,myocardial infarction 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Altered plasma progranulin levels(1) ,Altered GRN plasma expression(1)  
Details：
  • Target disease:
    Grn-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions (DOID_0060672)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered plasma progranulin levels 
    Evidence:
    From review article 
    Effect:
    The rs646776 SNP near SORT1, previously linked to SORT1 expression levels as an expression quantitative trait locus (eQTL), has also been reported to associate with plasma progranulin levels
    Alias in reference:
    CELSR2:rs646776
    Reference:
    PMID29977663
    Title:
    Genetic Modifiers in Neurodegeneration.
    Species studied:
    Human
    Abstract:
    To review the evidence for genetic modifier effects in the neurodegenerative diseases Huntington's Disease (HD), Frontotemporal Lobar Degeneration (FTLD), Alzheimer's Disease (AD), and Parkinson's Disease (PD).
  • Target disease:
    Grn-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions (DOID_0060672)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered GRN plasma expression 
    Evidence:
    From review article 
    Effect:
    rs646776 C allele associated with decreased GRN plasma expression
    Alias in reference:
    SORT1:c.*1859C>T
    Reference:
    PMID29977663
    Title:
    Genetic Modifiers in Neurodegeneration.
    Species studied:
    Human
    Abstract:
    To review the evidence for genetic modifier effects in the neurodegenerative diseases Huntington's Disease (HD), Frontotemporal Lobar Degeneration (FTLD), Alzheimer's Disease (AD), and Parkinson's Disease (PD).