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: rs1805096
rs1805096 		0.827 0.200 1 65636574 synonymous variant G/A snv 0.46 0.43
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 5 2012 2019
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: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity 		0.020 1.000 2 2016 2018
dbSNP: rs1303050393
rs1303050393 		1.000 1 65618108 missense variant T/C snv 4.0E-06
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY 		0.700 1.000 2 1998 2015
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: 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: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C4285910
Disease: Obstructive sleep apnea hypopnea syndrome
Obstructive sleep apnea hypopnea syndrome 		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: C1504532
Disease: Post transplant diabetes mellitus
Post transplant diabetes mellitus 		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: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer 		0.010 1.000 1 2008 2008
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C4700045
Disease: Non-ST-segment elevation myocardial infarction (NSTEMI)
Non-ST-segment elevation myocardial infarction (NSTEMI) 		0.010 1.000 1 2018 2018
dbSNP: rs12037879
rs12037879 		0.925 0.080 1 65477024 intron variant G/A;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013
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: rs17127608
rs17127608 		1 65428258 intron variant C/T snv 4.2E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1805092
rs1805092 		0.925 0.080 1 65570758 missense variant A/G snv
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity 		0.010 1.000 1 2016 2016
dbSNP: rs1892534
rs1892534 		0.925 0.120 1 65640261 3 prime UTR variant C/T snv 0.44
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2016 2016
dbSNP: rs1892534
rs1892534 		0.925 0.120 1 65640261 3 prime UTR variant C/T snv 0.44
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs201721079
rs201721079 		1 65615104 intron variant -/C delins
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2013 2013
dbSNP: rs34499590
rs34499590 		1 65616108 missense variant C/G;T snv 2.5E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 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: 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: rs35308591
rs35308591 		1 65615104 intron variant -/C delins
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3790438
rs3790438 		1 65619842 intron variant T/A;G snv 0.18
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018