LEPR, leptin receptor, 3953

N. diseases: 416; N. variants: 57
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1256046734
rs1256046734
0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.060 1.000 6 2009 2018
dbSNP: rs1892534
rs1892534
0.925 0.120 1 65640261 3 prime UTR variant C/T snv 0.44
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.800 1.000 3 2008 2019
dbSNP: rs6700896
rs6700896
0.827 0.160 1 65624099 intron variant C/T snv 0.44
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.800 1.000 3 2009 2019
dbSNP: rs10889569
rs10889569
1 65620511 intron variant A/T snv 0.46
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.800 1.000 2 2013 2019
dbSNP: rs6700896
rs6700896
0.827 0.160 1 65624099 intron variant C/T snv 0.44
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.020 0.500 2 2009 2015
dbSNP: rs1045895
rs1045895
0.925 0.080 1 65432298 3 prime UTR variant G/A;T snv
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1045895
rs1045895
0.925 0.080 1 65432298 3 prime UTR variant G/A;T snv
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity
0.010 1.000 1 2016 2016
dbSNP: rs11208659
rs11208659
1.000 0.080 1 65513597 intron variant T/A;C snv 0.17
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs11208659
rs11208659
1.000 0.080 1 65513597 intron variant T/A;C snv 0.17
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs11208662
rs11208662
1 65521481 intron variant G/C;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs11804091
rs11804091
1.000 0.080 1 65438196 intron variant A/G snv 0.15
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12037879
rs12037879
0.925 0.080 1 65477024 intron variant G/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs12037879
rs12037879
0.925 0.080 1 65477024 intron variant G/A;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12037879
rs12037879
0.925 0.080 1 65477024 intron variant G/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs12037879
rs12037879
0.925 0.080 1 65477024 intron variant G/A;T snv
Malignant neoplasm of colon and/or rectum
0.010 1.000 1 2013 2013
dbSNP: rs12037879
rs12037879
0.925 0.080 1 65477024 intron variant G/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1256046734
rs1256046734
0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs1256046734
rs1256046734
0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs1256046734
rs1256046734
0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1256046734
rs1256046734
0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1256046734
rs1256046734
0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1256046734
rs1256046734
0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1256046734
rs1256046734
0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1256046734
rs1256046734
0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1256046734
rs1256046734
0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015