S1PR1, sphingosine-1-phosphate receptor 1, 1901

N. diseases: 126; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146490475
rs146490475
Entrez Id: 1901;101928370
Gene Symbol: S1PR1;LOC101928370
S1PR1;LOC101928370
CUI: C0200635
Disease:
Lymphocyte Count measurement
C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs3835397
rs3835397
Entrez Id: 1901;101928370
Gene Symbol: S1PR1;LOC101928370
S1PR1;LOC101928370
CUI: C0200635
Disease:
Lymphocyte Count measurement
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs41287280
rs41287280
Entrez Id: 1901
Gene Symbol: S1PR1
S1PR1
CUI: C0200635
Disease:
Lymphocyte Count measurement
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2038366
rs2038366
Entrez Id: 1901;101928370
Gene Symbol: S1PR1;LOC101928370
S1PR1;LOC101928370
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE Consistent with predicted in silico functionality, alleles of the promoter SNPs rs2038366 (-1557G/T) and rs59317557 (-532C/G) influenced the activity of a luciferase S1PR1 reporter vector in transfected endothelial cells exposed to growth factors (epidermal growth factor, platelet-derived growth factor, and vascular endothelial growth factor) known to be increased in asthmatic airways. 20624651 2010
dbSNP: rs3753194
rs3753194
Entrez Id: 1901;101928370
Gene Symbol: S1PR1;LOC101928370
S1PR1;LOC101928370
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE In African Americans an association was found for both asthma and severe asthma for intronic SNP rs3753194 (c.-164+170A/G; P = .006 and P = .040, respectively) and for promoter SNP rs59317557 (-532C/G) with severe asthma (P = .028). 20624651 2010
dbSNP: rs59317557
rs59317557
Entrez Id: 1901;101928370
Gene Symbol: S1PR1;LOC101928370
S1PR1;LOC101928370
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE Consistent with predicted in silico functionality, alleles of the promoter SNPs rs2038366 (-1557G/T) and rs59317557 (-532C/G) influenced the activity of a luciferase S1PR1 reporter vector in transfected endothelial cells exposed to growth factors (epidermal growth factor, platelet-derived growth factor, and vascular endothelial growth factor) known to be increased in asthmatic airways. 20624651 2010