Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7023329
rs7023329
CUI: C0025202
Disease: melanoma
melanoma
0.810 GeneticVariation BEFREE One SNP in MTAP (methylthioadenosine phosphorylase) (rs7023329) that was previously associated with melanoma and nevi in multiple genome-wide association studies was associated with CRC, CA and OS by ASSET (P=0.007). 23361049

2013

dbSNP: rs10757257
rs10757257
CUI: C0025202
Disease: melanoma
melanoma
0.710 GeneticVariation BEFREE In addition, variants in these two loci showed association with melanoma risk in 3,131 melanoma cases from two independent studies, including rs10757257 at 9p21, combined P = 3.4 x 10(-8), OR = 1.23 (95% CI = 1.15-1.30) and rs132985 at 22q13.1, combined P = 2.6 x 10(-7), OR = 1.23 (95% CI = 1.15-1.30). 19578365

2009

dbSNP: rs10118757
rs10118757
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.020 GeneticVariation BEFREE Our study firstly reported that SNP rs10118757 was associated with CAD risk in a Chinese Han population, indicating that MTAP gene may play a potential role in the pathophysiological process of CAD. 23462334

2013

dbSNP: rs10118757
rs10118757
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.020 GeneticVariation BEFREE Eight SNPs (rs11206510, rs10118757, rs2383206, rs501120, rs2075292, rs174547, rs173539, and rs255052) were nominally significantly associated with CAD (P<0.05), and 5 of them were newly reported. 22664640

2012

dbSNP: rs10118757
rs10118757
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 GeneticVariation BEFREE As reported previously, rs10118757 was not associated with MI in the current study. 23462334

2013

dbSNP: rs10118757
rs10118757
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 GeneticVariation BEFREE Association between rs10118757(A/G) in methylthioadenosine phosphorylase gene and coronary artery disease in Chinese Hans. 23462334

2013

dbSNP: rs10118757
rs10118757
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE Association between rs10118757(A/G) in methylthioadenosine phosphorylase gene and coronary artery disease in Chinese Hans. 23462334

2013

dbSNP: rs10118757
rs10118757
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.010 GeneticVariation BEFREE Further, we also observed the combined effects of rs10118757 with alcohol drinking and hypertension, which increased the risk of i</span>schemic stroke. 19427650

2009

dbSNP: rs10118757
rs10118757
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation BEFREE Further, we also observed the combined effects of rs10118757 with alcohol drinking and hypertension, which increased the risk of ischemic stroke. 19427650

2009

dbSNP: rs10118757
rs10118757
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 GeneticVariation BEFREE The G allele of rs10118757 was associated with an increased risk of stroke, with a per-allele OR of 1.31(95% CI, 1.04-1.65, p=0.025). 19427650

2009

dbSNP: rs10757257
rs10757257
CUI: C2739810
Disease: Lentigo maligna melanoma
Lentigo maligna melanoma
0.010 GeneticVariation BEFREE In contrast, MTAP rs10757257 was associated with superficial spreading/nodular melanoma (OR = 1.34, 95% CI = 1.15- 1.57), but not with lentigo maligna melanoma (OR = 0.79, 95% CI = 0.46-1.35) (Phomogeneity =.06), the subtype associated with chronic sun exposure. 21962134

2011

dbSNP: rs10757257
rs10757257
CUI: C0334424
Disease: Nodular melanoma
Nodular melanoma
0.010 GeneticVariation BEFREE In contrast, MTAP rs10757257 was associated with superficial spreading/nodular melanoma (OR = 1.34, 95% CI = 1.15- 1.57), but not with lentigo maligna melanoma (OR = 0.79, 95% CI = 0.46-1.35) (Phomogeneity =.06), the subtype associated with chronic sun exposure. 21962134

2011

dbSNP: rs7023329
rs7023329
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE We found that the G allele of rs7023329 was significantly associated with a decreased risk of ESCC with a per-allele odds ratio of 0.84 (95% confidence interval, 0.77-0.91; P = 2.95 × 10<sup>-5</sup> ). 27960044

2017

dbSNP: rs7023329
rs7023329
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 GeneticVariation BEFREE One SNP in MTAP (methylthioadenosine phosphorylase) (rs7023329) that was previously associated with melanoma and nevi in multiple genome-wide association studies was associated with CRC, CA and OS by ASSET (P=0.007). 23361049

2013

dbSNP: rs7023329
rs7023329
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 GeneticVariation BEFREE One SNP in MTAP (methylthioadenosine phosphorylase) (rs7023329) that was previously associated with melanoma and nevi in multiple genome-wide association studies was associated with CRC, CA and OS by ASSET (P=0.007). 23361049

2013

dbSNP: rs7023329
rs7023329
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 GeneticVariation BEFREE One SNP in MTAP (methylthioadenosine phosphorylase) (rs7023329) that was previously associated with melanoma and nevi in multiple genome-wide association studies was associated with CRC, CA and OS by ASSET (P=0.007). 23361049

2013

dbSNP: rs7023329
rs7023329
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.010 GeneticVariation BEFREE One SNP in MTAP (methylthioadenosine phosphorylase) (rs7023329) that was previously associated with melanoma and nevi in multiple genome-wide association studies was associated with CRC, CA and OS by ASSET (P=0.007). 23361049

2013

dbSNP: rs7023329
rs7023329
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation BEFREE We used a family-based association test for five previously identified cancer-susceptibility tag single-nucleotide polymorphisms (rs1063192, rs2151280, rs2218220, rs10757257, and rs7023329) located in chromosomal region 9p21.3 in 1105 subjects (740 NF1 patients and 365 non-affected relatives) from 306 families. 22034633

2011

dbSNP: rs7023329
rs7023329
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation BEFREE We used a family-based association test for five previously identified cancer-susceptibility tag single-nucleotide polymorphisms (rs1063192, rs2151280, rs2218220, rs10757257, and rs7023329) located in chromosomal region 9p21.3 in 1105 subjects (740 NF1 patients and 365 non-affected relatives) from 306 families. 22034633

2011

dbSNP: rs7023954
rs7023954
CUI: C0025202
Disease: melanoma
melanoma
0.010 GeneticVariation BEFREE Characterization of the Methylthioadenosine Phosphorylase Polymorphism rs7023954 - Incidence and Effects on Enzymatic Function in Malignant Melanoma. 27479139

2016

dbSNP: rs7027989
rs7027989
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 GeneticVariation BEFREE We observed that rs7027989 in the MTAP gene, and rs3217992 and rs1063192 in the CDKN2B gene were significantly associated with MI in male subjects. 19272367

2009

dbSNP: rs869329
rs869329
CUI: C0025202
Disease: melanoma
melanoma
0.010 GeneticVariation BEFREE Individuals having melanoma in a visibly UV-damaged site were more likely to carry MC1R rs75570604 (odds ratio [OR] 2.5), 9q31.2 rs10816595 (OR 2.5), and MTAP rs869329 (OR 1.4); these same alleles were more common in MPM patients diagnosed ≤40 years. 31794051

2019

dbSNP: rs869330
rs869330
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.010 GeneticVariation BEFREE This exploratory study is the first to show a significant association between the rs869330 variant (in the MTAP gene) and outcome in a large CM population. 30681428

2019

dbSNP: rs869330
rs869330
CUI: C0025202
Disease: melanoma
melanoma
0.010 GeneticVariation BEFREE This exploratory study is the first to show a significant association between the rs869330 variant (in the MTAP gene) and outcome in a large CM population. 30681428

2019