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: rs9436747
rs9436747 		1 65445924 intron variant T/C snv 0.56
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
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: rs1805094
rs1805094 		0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06
CUI: C0042384
Disease: Vasculitis
Vasculitis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs34499590
rs34499590 		1 65616108 missense variant C/G;T snv 2.5E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs6588147
rs6588147 		0.851 0.080 1 65469811 intron variant G/A snv 0.70
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1805134
rs1805134 		0.925 0.160 1 65601426 synonymous variant T/C snv 0.22 0.24
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.020 1.000 2 2012 2016
dbSNP: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.060 1.000 6 2007 2019
dbSNP: rs1805094
rs1805094 		0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3790435
rs3790435 		1.000 0.080 1 65420715 5 prime UTR variant T/A;C;G snv 0.51
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2012 2012
dbSNP: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C4025886
Disease: Severe periodontitis
Severe periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9436735
rs9436735 		1 65419378 upstream gene variant C/G snv 2.5E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17127608
rs17127608 		1 65428258 intron variant C/T snv 4.2E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34499590
rs34499590 		1 65616108 missense variant C/G;T snv 2.5E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9436735
rs9436735 		1 65419378 upstream gene variant C/G snv 2.5E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9436742
rs9436742 		1 65432648 3 prime UTR variant C/T snv 2.3E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9436735
rs9436735 		1 65419378 upstream gene variant C/G snv 2.5E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012