CPNE5, copine 5, 57699

N. diseases: 10; N. variants: 13
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: rs236373
rs236373 		6 36824281 intron variant C/T snv 0.31
CUI: C0018810
Disease: heart rate
heart rate 		0.800 1.000 1 2013 2013
dbSNP: rs10440825
rs10440825 		6 36837991 intron variant G/A snv 2.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs72856431
rs72856431 		1.000 0.080 6 36795636 intron variant C/T snv 1.2E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs9470398
rs9470398 		1.000 0.040 6 36799290 intron variant T/C snv 5.5E-02
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs9470398
rs9470398 		1.000 0.040 6 36799290 intron variant T/C snv 5.5E-02
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		0.700 1.000 1 2019 2019
dbSNP: rs9470398
rs9470398 		1.000 0.040 6 36799290 intron variant T/C snv 5.5E-02
CUI: C0018810
Disease: heart rate
heart rate 		0.700 1.000 1 2019 2019
dbSNP: rs10456444
rs10456444 		1.000 0.080 6 36755065 non coding transcript exon variant T/C snv 0.44
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3213534
rs3213534 		1.000 0.080 6 36743629 intron variant G/A snv 0.30
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3752480
rs3752480 		1.000 0.080 6 36742492 splice region variant A/G snv 0.20 0.16
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3752482
rs3752482 		0.925 0.160 6 36765293 intron variant A/C;G snv 4.0E-06; 0.12
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3752482
rs3752482 		0.925 0.160 6 36765293 intron variant A/C;G snv 4.0E-06; 0.12
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs4714010
rs4714010 		1.000 0.080 6 36779629 intron variant C/G;T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7763347
rs7763347 		1.000 0.080 6 36743273 intron variant A/G snv 0.52
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9470386
rs9470386 		0.925 0.160 6 36745943 intron variant G/A;C snv
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs9470386
rs9470386 		0.925 0.160 6 36745943 intron variant G/A;C snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9470387
rs9470387 		1.000 0.080 6 36746081 intron variant C/A snv 0.27
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9986517
rs9986517 		1.000 0.080 6 36751302 intron variant C/A;T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015