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: 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: rs11720108
rs11720108
1.000 0.080 3 123350211 intron variant C/G;T snv
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
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: 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: 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
High density lipoprotein measurement
0.700 1.000 1 2018 2018
dbSNP: rs2062432
rs2062432
3 123359232 intron variant G/A snv 0.43
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: 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: 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: rs59107033
rs59107033
3 123386796 intron variant C/G;T snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2016 2016
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: rs7614016
rs7614016
3 123351579 intron variant G/A snv 0.19
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: 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: 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: rs796065306
rs796065306
1.000 0.080 3 123319754 missense variant C/T snv
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
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: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
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: 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
dbSNP: rs864309515
rs864309515
1.000 0.080 3 123352463 missense variant C/T snv
Dyskinesia, Familial, with Facial Myokymia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
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: 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