ADCY5, adenylate cyclase 5, 111

N. diseases: 103; N. variants: 23
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: rs11717195
rs11717195 		1.000 0.080 3 123363551 intron variant T/C snv 0.19
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2012 2014
dbSNP: rs11717195
rs11717195 		1.000 0.080 3 123363551 intron variant T/C snv 0.19
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 2 2012 2012
dbSNP: rs11717195
rs11717195 		1.000 0.080 3 123363551 intron variant T/C snv 0.19
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 2 2012 2012
dbSNP: rs2877716
rs2877716 		3 123375604 intron variant T/C snv 0.76
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 2 2012 2012
dbSNP: rs2877716
rs2877716 		3 123375604 intron variant T/C snv 0.76
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
dbSNP: rs2877716
rs2877716 		3 123375604 intron variant T/C snv 0.76
CUI: C0017741
Disease: Glucose tolerance test
Glucose tolerance test 		0.800 1.000 1 2010 2010
dbSNP: rs2877716
rs2877716 		3 123375604 intron variant T/C snv 0.76
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2012 2012
dbSNP: rs9883204
rs9883204 		3 123377973 intron variant T/A;C snv
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.800 1.000 2 2010 2013
dbSNP: rs4093840
rs4093840 		1.000 0.040 3 123358195 intron variant T/A snv 0.41
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs9851257
rs9851257 		3 123406864 intron variant T/A snv 0.33
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs17295246
rs17295246 		3 123386874 intron variant G/A;C snv 0.19
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 22 1992 2017
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1992 2017
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2001 2014
dbSNP: rs2062432
rs2062432 		3 123359232 intron variant G/A snv 0.43
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2062432
rs2062432 		3 123359232 intron variant G/A snv 0.43
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2062432
rs2062432 		3 123359232 intron variant G/A snv 0.43
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2062432
rs2062432 		3 123359232 intron variant G/A snv 0.43
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7614016
rs7614016 		3 123351579 intron variant G/A snv 0.19
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7614016
rs7614016 		3 123351579 intron variant G/A snv 0.19
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C0270871
Disease: Facial Myokymia
Facial Myokymia 		Nervous System Diseases; Stomatognathic Diseases 0.700 0