CHRM3, cholinergic receptor muscarinic 3, 1131

N. diseases: 284; N. variants: 17
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: rs12059546
rs12059546 		0.925 0.040 1 239806797 intron variant A/G snv 0.30
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs11579382
rs11579382 		1.000 0.040 1 239737706 intron variant G/C snv 0.40
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12036147
rs12036147 		1.000 0.040 1 239835413 intron variant A/G;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs12036147
rs12036147 		1.000 0.040 1 239835413 intron variant A/G;T snv
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs12082628
rs12082628 		1.000 0.040 1 239634406 intron variant G/A snv 8.5E-04
CUI: C0272178
Disease: Drug-induced neutropenia
Drug-induced neutropenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs16838623
rs16838623 		1 239648090 intron variant A/C snv 3.4E-02
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		0.700 1.000 1 2017 2017
dbSNP: rs16838623
rs16838623 		1 239648090 intron variant A/C snv 3.4E-02
CUI: C3897558
Disease: Soluble Interleukin 6 Receptor Measurement
Soluble Interleukin 6 Receptor Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs185275068
rs185275068 		1 239443989 intron variant G/A snv 3.6E-03
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs188686089
rs188686089 		1 239529929 intron variant G/A snv 7.0E-06
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs2355237
rs2355237 		1 239694224 intron variant A/G snv 0.45
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs2355237
rs2355237 		1 239694224 intron variant A/G snv 0.45
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs536477
rs536477 		1 239882608 intron variant A/G snv 0.49
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs76759221
rs76759221 		1 239553545 intron variant T/C snv 5.6E-03
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs77830002
rs77830002 		1 239536529 intron variant C/T snv 2.6E-03
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs587776862
rs587776862 		1.000 0.040 1 239908624 frameshift variant GCCTGAGGAGGA/T delins
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs2165870
rs2165870 		1 239622120 intron variant A/C;G snv 0.75
CUI: C0520909
Disease: Postoperative Nausea and Vomiting
Postoperative Nausea and Vomiting 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2018 2020
dbSNP: rs12059546
rs12059546 		0.925 0.040 1 239806797 intron variant A/G snv 0.30
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1867265
rs1867265 		1.000 0.120 1 239676807 intron variant C/T snv 0.33
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3738435
rs3738435 		0.925 0.080 1 239907303 intron variant T/C snv 0.23
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3738435
rs3738435 		0.925 0.080 1 239907303 intron variant T/C snv 0.23
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs4620530
rs4620530 		0.925 0.080 1 239900521 intron variant T/G snv 0.44
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		Digestive System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs4620530
rs4620530 		0.925 0.080 1 239900521 intron variant T/G snv 0.44
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs771480057
rs771480057 		1.000 0.080 1 239907544 synonymous variant G/A snv 1.2E-05 2.1E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2003 2003