Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146374310
rs146374310
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7704116
rs7704116
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE This study demonstrated an association of PPP2CA (rs10491322 and rs7704116) with SLE susceptibility in a Chinese Han population. 29979448 2018
dbSNP: rs7704116
rs7704116
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE Conditional analyses revealed that SNP rs7704116 in intron 1 showed consistently strong association with SLE across Asian, European American, and Hispanic American populations (odds ratio 1.3 [95% confidence interval 1.14-1.31], meta-analysis P=3.8×10(-7)). 21590681 2011
dbSNP: rs10491322
rs10491322
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
CUI: C0003864
Disease:
Arthritis
0.010 GeneticVariation BEFREE Specifically, carriage of the rs10491322 G* allele led to a higher prevalence of arthritis in SLE patients (P = .01). 29979448 2018
dbSNP: rs10491322
rs10491322
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
CUI: C0021053
Disease:
Immune System Diseases
0.010 GeneticVariation BEFREE Furthermore, the minor allele of PPP2CA rs10491322 as a risk factor was correlated with immunologic disorders for SLE. 29979448 2018
dbSNP: rs10491322
rs10491322
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE This study demonstrated an association of PPP2CA (rs10491322 and rs7704116) with SLE susceptibility in a Chinese Han population. 29979448 2018
dbSNP: rs7704116
rs7704116
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
CUI: C0022658
Disease:
Kidney Diseases
0.010 GeneticVariation BEFREE In European Americans, the largest ethnic data set studied, the risk A allele of rs7704116 was associated with the presence of renal disease, anti-double-stranded DNA, and anti-RNP antibodies. 21590681 2011