PLCG1, phospholipase C gamma 1, 5335

N. diseases: 116; N. variants: 7
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: rs4297946
rs4297946 		20 41182635 3 prime UTR variant G/C;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 3 2010 2019
dbSNP: rs2228246
rs2228246 		0.925 0.120 20 41163423 missense variant A/G snv 0.14 0.14
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs2235363
rs2235363 		20 41179129 3 prime UTR variant G/A snv 3.6E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs4297946
rs4297946 		20 41182635 3 prime UTR variant G/C;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6129767
rs6129767 		1.000 0.040 20 41193692 intron variant T/G snv 0.29
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs753381
rs753381 		20 41168825 missense variant T/C snv 0.61 0.67
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs753381
rs753381 		20 41168825 missense variant T/C snv 0.61 0.67
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs753381
rs753381 		20 41168825 missense variant T/C snv 0.61 0.67
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs760762
rs760762 		0.851 0.120 20 41147406 intron variant C/A;T snv 0.59
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11696662
rs11696662 		0.925 0.120 20 41161795 intron variant C/T snv 4.4E-02
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014