AGTR1, angiotensin II receptor type 1, 185

N. diseases: 440; N. variants: 33
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: rs104893677
rs104893677 		1.000 0.120 3 148741880 missense variant C/T snv 1.4E-05
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2005 2005
dbSNP: rs12695894
rs12695894 		0.882 0.120 3 148724853 intron variant A/G snv 2.7E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs12695894
rs12695894 		0.882 0.120 3 148724853 intron variant A/G snv 2.7E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs12695894
rs12695894 		0.882 0.120 3 148724853 intron variant A/G snv 2.7E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs12721235
rs12721235 		3 148722587 intron variant C/A snv 1.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12721235
rs12721235 		3 148722587 intron variant C/A snv 1.7E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12721235
rs12721235 		3 148722587 intron variant C/A snv 1.7E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12721235
rs12721235 		3 148722587 intron variant C/A snv 1.7E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1826361
rs1826361 		3 148726941 intron variant A/C snv 0.13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1826361
rs1826361 		3 148726941 intron variant A/C snv 0.13
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5185
rs5185 		3 148742185 3 prime UTR variant T/G snv 6.7E-03 2.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5185
rs5185 		3 148742185 3 prime UTR variant T/G snv 6.7E-03 2.5E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5185
rs5185 		3 148742185 3 prime UTR variant T/G snv 6.7E-03 2.5E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5185
rs5185 		3 148742185 3 prime UTR variant T/G snv 6.7E-03 2.5E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs387906577
rs387906577 		1.000 0.120 3 148741144 frameshift variant -/T delins 4.0E-06; 4.0E-06 7.0E-06
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs397514687
rs397514687 		1.000 0.120 3 148741411 stop gained C/G;T snv 4.1E-06; 1.6E-05
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs5186
rs5186 		0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.060 0.833 6 2013 2019
dbSNP: rs5182
rs5182 		0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.030 0.333 3 2012 2018
dbSNP: rs5186
rs5186 		0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 0.667 3 2008 2013
dbSNP: rs5186
rs5186 		0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.030 1.000 3 2007 2019
dbSNP: rs5186
rs5186 		0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.030 1.000 3 2014 2018
dbSNP: rs5186
rs5186 		0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.030 1.000 3 2011 2015
dbSNP: rs5186
rs5186 		0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2009 2019
dbSNP: rs5186
rs5186 		0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2009 2019
dbSNP: rs2276736
rs2276736 		1.000 0.040 3 148708086 intron variant A/G;T snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.020 1.000 2 2009 2013