Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1000113
rs1000113
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.010 GeneticVariation BEFREE Allele and genotype frequencies of rs1000113 and rs4958847 were determined in 823 CD (265 younger than 19 years at diagnosis), 353 ulcerative colitis (UC) (130 younger than 19 years at diagnosis), and 578 controls. 19098858

2009

dbSNP: rs10001410
rs10001410
Attention deficit hyperactivity disorder
0.010 GeneticVariation BEFREE SNPs rs362990-<i>SNAP25</i> (T allele; <i>p</i> = 2.46 × 10<sup>-4</sup>), rs2282794-<i>FGF1</i> (A allele; <i>p</i> = 1.33 × 10<sup>-2</sup>), rs2122642-<i>ADGRL3</i> (C allele, <i>p</i> = 3.5 × 10<sup>-2</sup>), and <i>ADGRL3</i> haplotype CCC (markers rs1565902-rs10001410-rs2122642, OR = 1.74, <i>P</i><sub>permuted</sub> = 0.021) were significantly associated with ADHD. 31426340

2019

dbSNP: rs1000256867
rs1000256867
High-Grade Squamous Intraepithelial Lesions
0.010 GeneticVariation BEFREE The H85Y and E120D variants in E6 were significantly reduced in the high-grade squamous intraepithelial lesion (HSIL) group compared to the <HSIL group (P = .046 and .005), conversely the N29S in E7(P = .01). 31670402

2020

dbSNP: rs1000283
rs1000283
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The association of common SNPs in HSD11B1 [IVS3-29G/T (rs12086634), IVS4-11120A/G (rs1000283)] and H6PD [R453Q (rs6688832), P554L (rs17368528)], either separately or combined, with type 2 diabetes and metabolic syndrome was examined in 427 Korean subjects with type 2 diabetes and in 358 nondiabetic Korean subjects. 21869537

2011

dbSNP: rs1000283
rs1000283
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 GeneticVariation BEFREE HSD11B1 polymorphisms (rs12086634 and rs1000283) were associated with metabolic syndrome among type 2 diabetic subjects and an H6PD polymorphism (rs17368528) was a risk factor for metabolic syndrome in nondiabetic subjects. 21869537

2011

dbSNP: rs10004195
rs10004195
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease
0.010 GeneticVariation BEFREE We identified that two SNPs, rs165501 (OR = 1.20, P = 0.0008, IRAK2) and rs10004195 (OR = 1.23, P = 0.0001, TLR10), were identified to be significantly associated with HD. 31073143

2019

dbSNP: rs10004195
rs10004195
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.010 GeneticVariation BEFREE We investigated three polymorphisms in the TLR10 gene (rs4129009, rs11096956, and rs10004195) in 85 Korean AITD patients (Graves' disease, [GD]=50, Hashimoto's disease [HD]=35; thyroid-associated ophthalmopathy [TAO]=23, non-TAO=62; male=16, female=69; mean age=13.4±3.1 years) and 279 healthy control subjects. 25295614

2015

dbSNP: rs10004195
rs10004195
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE We concluded that TLR-1 rs4833095 and TLR10 rs10004195 confer susceptibility to development of gastroduodenal disease, especially GC in H.pylori disease. 26559190

2015

dbSNP: rs10004195
rs10004195
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies
0.010 GeneticVariation BEFREE We investigated three polymorphisms in the TLR10 gene (rs4129009, rs11096956, and rs10004195) in 85 Korean AITD patients (Graves' disease, [GD]=50, Hashimoto's disease [HD]=35; thyroid-associated ophthalmopathy [TAO]=23, non-TAO=62; male=16, female=69; mean age=13.4±3.1 years) and 279 healthy control subjects. 25295614

2015

dbSNP: rs10004195
rs10004195
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 GeneticVariation BEFREE We concluded that TLR-1 rs4833095 and TLR10 rs10004195 confer susceptibility to development of gastroduodenal disease, especially GC in H.pylori disease. 26559190

2015

dbSNP: rs10004195
rs10004195
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD)
0.010 GeneticVariation BEFREE The haplotype (AGT) frequency of TLR10 rs4129009, rs11096956, and rs10004195 was higher in the AITD group than in healthy controls (OR=2.1, corrected p=0.03). 25295614

2015

dbSNP: rs10004195
rs10004195
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.010 GeneticVariation BEFREE Our case-control analysis showed that rs10004195 was associated with IgAN (codominant model, p = 0.016 in TT vs. TA; p = 0.044 in TT vs. AA; dominant model, p = 0.0068). 20953797

2011

dbSNP: rs1000592
rs1000592
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder
0.010 GeneticVariation BEFREE The case-control analyses revealed a nominal significant association of the HTR3D variant rs1000592 (p.H52R) with OCD (p=0.029) which was also evident after combination of the case-control and the trio-results (p=0.024). 23928294

2014

dbSNP: rs1000731
rs1000731
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 GeneticVariation BEFREE There was no significant relationship between other DISC1 polymorphisms (rs3738401, rs2273890, rs3738398, rs3738402, rs2492367, rs843979, rs3737597, rs4658971, rs1538979, rs1000731 and rs3738399) and SCZ. 29031911

2018

dbSNP: rs1000778
rs1000778
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 GeneticVariation BEFREE The rs1000778 minor allele AA was associated with a lower risk of CAD (OR =0.37, 95% CI: 0.15-0.89, P=0.025). 28237083

2017

dbSNP: rs10008257
rs10008257
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.010 GeneticVariation BEFREE Three SNPs (rs10008257, rs2433320 and rs2452600) were identified in the PDLIM5 gene and genotyped in patients diagnosed with recurrent MDD and in matched control subjects. 18197271

2008

dbSNP: rs10008492
rs10008492
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE Two TLR10-TLR1-TLR6 variants in moderate linkage disequilibrium were significantly associated with NHL: rs10008492 [odds ratio for CT genotype (OR(CT)) 1.12, 95% confidence interval (CI) 0.97-1.30; OR(TT) 1.40, 95% CI 1.15-1.71; P(trend) = 0.001] and rs4833103 (OR(AC) 0.75, 95% CI 0.64-0.88; OR(AA) 0.74, 95% CI 0.62-0.90; P(trend) = 0.002; P(dominant) = 0.0002). 19029192

2009

dbSNP: rs10009145
rs10009145
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.010 GeneticVariation BEFREE Haplotype ATAAAT, which contained the minor allele of rs10009145 and the major allele of rs7689753, increased the risk of alcohol dependence, whereas haplotype GGGGAT, bearing the major allele of rs10009145 and the minor allele of rs7689753, protected against it. 22044940

2012

dbSNP: rs10009228
rs10009228
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 GeneticVariation BEFREE A SNP in the alpha9 subunit, the G allele of rs10009228 (alpha9, A>G) shows a significant trend in the combined cohort, indicating that this allele constitutes a risk factor for neoplastic progression. 22406075

2012

dbSNP: rs1000952
rs1000952
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder
0.010 GeneticVariation BEFREE The case-control analyses revealed a nominal significant association of the HTR3D variant rs1000592 (p.H52R) with OCD (p=0.029) which was also evident after combination of the case-control and the trio-results (p=0.024). 23928294

2014

dbSNP: rs10010131
rs10010131
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.010 GeneticVariation BEFREE All the risk alleles in the 11 examined type 2 diabetes risk variants showed an odds ratio (OR) greater than 1 for the GDM group compared with the control group ranging from 1.13 [95% confidence interval (CI) 0.88-1.46] to 1.44 (95% CI 1.19-1.74) except for the WFS1 rs10010131 variant with OR 0.87 (95% CI 0.73-1.05). 18984664

2009

dbSNP: rs10010131
rs10010131
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 GeneticVariation BEFREE We genotyped the WFS1 SNPs rs10010131, rs752854 and rs734312 (H611R) in 3,548 DPP participants and performed Cox regression analysis using genotype, intervention and their interactions as predictors of diabetes incidence. 18060660

2008

dbSNP: rs10010131
rs10010131
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation BEFREE We genotyped the WFS1 SNPs rs10010131, rs752854 and rs734312 (H611R) in 3,548 DPP participants and performed Cox regression analysis using genotype, intervention and their interactions as predictors of diabetes incidence. 18060660

2008

dbSNP: rs10010131
rs10010131
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.010 GeneticVariation BEFREE Polymorphisms in TCF7L2 (rs7903146, OR 1.10, 95% CI 1.04-1.17, p = 0.00097), FTO (rs9939609, OR 1.08, 95% CI 1.02-1.14, p = 0.0065), WFS1 (rs10010131, OR 1.07, 95% CI 1.02-1.13, p = 0.0078) and IGF2BP2 (rs4402960, OR 1.07, 95% CI 1.01-1.13, p = 0.021) predicted the development of at least three components of the metabolic syndrome in both univariate and multivariate analysis; in the case of TCF7L2, WFS1 and IGF2BP this was due to their association with hyperglycaemia (p < 0.00001, p = 0.0033 and p = 0.027, respectively) and for FTO it was due to its association with obesity (p = 0.004). 18853134

2008

dbSNP: rs10010131
rs10010131
CUI: C0028754
Disease: Obesity
Obesity
0.010 GeneticVariation BEFREE Polymorphisms in TCF7L2 (rs7903146, OR 1.10, 95% CI 1.04-1.17, p = 0.00097), FTO (rs9939609, OR 1.08, 95% CI 1.02-1.14, p = 0.0065), WFS1 (rs10010131, OR 1.07, 95% CI 1.02-1.13, p = 0.0078) and IGF2BP2 (rs4402960, OR 1.07, 95% CI 1.01-1.13, p = 0.021) predicted the development of at least three components of the metabolic syndrome in both univariate and multivariate analysis; in the case of TCF7L2, WFS1 and IGF2BP this was due to their association with hyperglycaemia (p < 0.00001, p = 0.0033 and p = 0.027, respectively) and for FTO it was due to its association with obesity (p = 0.004). 18853134

2008