F2R, coagulation factor II thrombin receptor, 2149

N. diseases: 347; N. variants: 10
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: rs2227831
rs2227831 		5 76727669 intron variant A/G snv 2.7E-02
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.800 1.000 1 2011 2011
dbSNP: rs2227777
rs2227777 		5 76724375 intron variant A/G snv 3.1E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2227777
rs2227777 		5 76724375 intron variant A/G snv 3.1E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2227827
rs2227827 		5 76723219 intron variant C/T snv 2.9E-02
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2227831
rs2227831 		5 76727669 intron variant A/G snv 2.7E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs11267092
rs11267092 		5 76715788 intron variant -/GGCCGCGGGAAGC;GGCCGCGGGAAGCGGCCGCGGGAAGC delins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs11267092
rs11267092 		5 76715788 intron variant -/GGCCGCGGGAAGC;GGCCGCGGGAAGCGGCCGCGGGAAGC delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1235324522
rs1235324522 		1.000 0.040 5 76732662 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs168753
rs168753 		1.000 0.040 5 76732299 intron variant A/T snv 0.17 0.14
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs168753
rs168753 		1.000 0.040 5 76732299 intron variant A/T snv 0.17 0.14
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs168753
rs168753 		1.000 0.040 5 76732299 intron variant A/T snv 0.17 0.14
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2227744
rs2227744 		1.000 0.040 5 76714524 intron variant G/A snv 0.38
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs32934
rs32934 		5 76714881 intron variant C/T snv 6.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs32934
rs32934 		5 76714881 intron variant C/T snv 6.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs778747981
rs778747981 		1.000 0.080 5 76732556 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs780737633
rs780737633 		1.000 0.080 5 76733086 synonymous variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2011 2011