Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2071045
rs2071045
LEP
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.010 GeneticVariation BEFREE Additionally, maternal LEP rs2071045 (RR = 1.31, 95% CI: 1.08, 1.60) and offspring UCP2 rs660339 (RR = 1.32, 95% CI: 1.06, 1.64) were associated with NTD risk. 23132673

2012

dbSNP: rs2071045
rs2071045
LEP
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE However, further analysis in patients with SLE showed that the TT genotype and T allele frequencies of the LEP rs2071045 polymorphism were nominally significantly higher in patients with pericarditis (P = 0.012, P = 0.011, respectively). 28244652

2017

dbSNP: rs2071045
rs2071045
LEP
CUI: C0031046
Disease: Pericarditis
Pericarditis
0.010 GeneticVariation BEFREE However, further analysis in patients with SLE showed that the TT genotype and T allele frequencies of the LEP rs2071045 polymorphism were nominally significantly higher in patients with pericarditis (P = 0.012, P = 0.011, respectively). 28244652

2017

dbSNP: rs1800564
rs1800564
LEP
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.010 GeneticVariation BEFREE In this study, we explored whether functionally relevant genetic polymorphisms in SRD5A2 (V89L, A49T, [TA](n)) are linked to alcohol addiction and craving. 22707254

2012

dbSNP: rs2167270
rs2167270
LEP
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 GeneticVariation BEFREE LEP rs2167270 polymorphism does not seem to be a genetic risk factor for disease susceptibility or clinically evident CV disease and subclinical atherosclerosis in patients with RA. 21385539

2011

dbSNP: rs2167270
rs2167270
LEP
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 GeneticVariation BEFREE LEP rs2167270 polymorphism does not seem to be a genetic risk factor for disease susceptibility or clinically evident CV disease and subclinical atherosclerosis in patients with RA. 21385539

2011

dbSNP: rs2167270
rs2167270
LEP
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.010 GeneticVariation BEFREE LEP rs2167270 polymorphism does not seem to be a genetic risk factor for disease susceptibility or clinically evident CV disease and subclinical atherosclerosis in patients with RA. 21385539

2011

dbSNP: rs2167270
rs2167270
LEP
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE LEP rs2167270 polymorphism does not seem to be a genetic risk factor for disease susceptibility or clinically evident CV disease and subclinical atherosclerosis in patients with RA. 21385539

2011

dbSNP: rs2167270
rs2167270
LEP
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 GeneticVariation BEFREE Leptin rs2167270 G > A (G19A) polymorphism may decrease the risk of cancer: A case-control study and meta-analysis involving 19 989 subjects. 30697798

2019

dbSNP: rs2167270
rs2167270
LEP
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 GeneticVariation BEFREE Leptin rs2167270 G > A (G19A) polymorphism may decrease the risk of cancer: A case-control study and meta-analysis involving 19 989 subjects. 30697798

2019

dbSNP: rs3828942
rs3828942
LEP
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.010 GeneticVariation BEFREE Leptin is suggested to be related with the neurobiology of anxiety disorders in a sex-dependent manner since women carrying the A-allele of LEP rs3828942 present a higher risk for GAD, while leptin levels seem to be lower in men with GAD carrying A-allele. 31420734

2019

dbSNP: rs200487063
rs200487063
LEP
CUI: C0028754
Disease: Obesity
Obesity
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs34104384
rs34104384
LEP
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs34104384
rs34104384
LEP
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs200487063
rs200487063
LEP
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs200487063
rs200487063
LEP
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs34104384
rs34104384
LEP
CUI: C0028754
Disease: Obesity
Obesity
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs34104384
rs34104384
LEP
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs34104384
rs34104384
LEP
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs200487063
rs200487063
LEP
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs200487063
rs200487063
LEP
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs2167270
rs2167270
LEP
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 GeneticVariation BEFREE Overall, the LEP A19G (rs2167270) genetic polymorphism was associated with lower cancer risk. 24845032

2014

dbSNP: rs2167270
rs2167270
LEP
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 GeneticVariation BEFREE Overall, the LEP A19G (rs2167270) genetic polymorphism was associated with lower cancer risk. 24845032

2014

dbSNP: rs28954113
rs28954113
LEP
CUI: C0028754
Disease: Obesity
Obesity
0.030 GeneticVariation BEFREE The obese phenotype-inducing N82K mutation in human leptin disrupts receptor-binding and biological activity. 20307995

2010

dbSNP: rs199647957
rs199647957
LEP
CUI: C0028754
Disease: Obesity
Obesity
0.010 GeneticVariation BEFREE The IL-6 G174C polymorphism was also associated obesity when using allelic comparisons, the recessive genetic model and the dominant genetic model with OR (95% CI) of 1.95 (1.37-2.77), 1.44 (1.15-1.80), and 1.36 (1.16-1.59), respectively. 21660081

2012