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: 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: rs11708067
rs11708067 		0.882 0.080 3 123346931 intron variant A/G snv 0.19
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs11719201
rs11719201 		3 123349897 intron variant C/T snv 0.20
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
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: rs72964564
rs72964564 		3 123335923 intron variant A/C snv 0.21
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs11708067
rs11708067 		0.882 0.080 3 123346931 intron variant A/G snv 0.19
CUI: C1305855
Disease: Body mass index
Body mass index 		0.800 1.000 1 2012 2012
dbSNP: rs12330631
rs12330631 		3 123370987 intron variant C/T snv 0.26
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
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: rs864309483
rs864309483 		0.851 0.080 3 123352464 missense variant G/A snv
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs796065306
rs796065306 		1.000 0.080 3 123319754 missense variant C/T snv
CUI: C0008489
Disease: Chorea
Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs864309484
rs864309484 		1.000 0.080 3 123291354 missense variant A/T snv
CUI: C0008489
Disease: Chorea
Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
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: rs11708067
rs11708067 		0.882 0.080 3 123346931 intron variant A/G snv 0.19
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.840 0.875 8 2010 2018
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: rs11720108
rs11720108 		1.000 0.080 3 123350211 intron variant C/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
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: rs797045002
rs797045002 		1.000 0.080 3 123325321 splice donor variant C/A;T 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 3 2012 2015
dbSNP: rs796065306
rs796065306 		1.000 0.080 3 123319754 missense variant C/T 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: 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: rs864309515
rs864309515 		1.000 0.080 3 123352463 missense variant C/T 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 1 2015 2015
dbSNP: rs864309484
rs864309484 		1.000 0.080 3 123291354 missense variant A/T snv
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
Dyskinesia, Familial, with Facial Myokymia 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1992 2017
dbSNP: rs796065306
rs796065306 		1.000 0.080 3 123319754 missense variant C/T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs864309484
rs864309484 		1.000 0.080 3 123291354 missense variant A/T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015