Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111854391
rs111854391
T 0.700 CausalMutation CLINVAR

dbSNP: rs112550005
rs112550005
A 0.700 CausalMutation CLINVAR

dbSNP: rs665268
rs665268
MLX
0.010 GeneticVariation BEFREE We show that rs665268 significantly correlated with the severity of TAK, including the number of arterial lesions and morbidity of aortic regurgitation; the latter may be attributed to the fact that MLX mRNA expression was mostly detected in the aortic valve. 30354298

2018

dbSNP: rs77041280
rs77041280
0.010 GeneticVariation BEFREE AR patients with mutant genotype (TA + AA) of rs77485247 and AR patients with mutant genotype (AT + TT) of rs77041280 had higher specific IgE, ECP levels, and VAS scores after treatment and lower incidence of adverse reactions and total effective rate than those with TT genotype and those with AA genotype, respectively. 27888642

2017

dbSNP: rs77485247
rs77485247
0.010 GeneticVariation BEFREE AR patients with mutant genotype (TA + AA) of rs77485247 and AR patients with mutant genotype (AT + TT) of rs77041280 had higher specific IgE, ECP levels, and VAS scores after treatment and lower incidence of adverse reactions and total effective rate than those with TT genotype and those with AA genotype, respectively. 27888642

2017

dbSNP: rs772341885
rs772341885
0.010 GeneticVariation BEFREE Here we demonstrate that an expanded p63<sup>+</sup> and CK5<sup>+</sup> basal/progenitor cell population, induced by the concomitant activation of oncogenic Kras(G12D) and androgen receptor (AR) signaling, underwent cell differentiation in vivo The differentiation process led to suppression of p63-expressing cells with a decreased number of CK5<sup>+</sup> basal cells but an increase of CK8<sup>+</sup> luminal tumorigenic cells and revealed a hierarchal lineage pattern consisting of p63<sup>+</sup>/CK5<sup>+</sup> progenitor, CK5<sup>+</sup>/CK8<sup>+</sup> transitional progenitor, and CK8<sup>+</sup> differentiated luminal cells. 27760825

2016

dbSNP: rs2515641
rs2515641
0.010 GeneticVariation BEFREE The rs2515641 of CYP2E1 showed significant differences between the AR patient group and non-AR group (p = 0.003, OR = 2.55, 95% CI = 1.37-4.75 in the codominant 1 model; p = 0.002, OR = 2.61, 95% CI = 1.43-4.77 in the dominant model; p = 0.0035, OR = 2.13, 95% CI = 1.29-3.50 in the log-additive model). 24654912

2014

dbSNP: rs6871626
rs6871626
0.010 GeneticVariation BEFREE We also found that rs6871626 showed a significant association with clinical manifestations of TAK, including increased risk and severity of aortic regurgitation, a representative severe complication of TAK. 23830516

2013