REN, renin, 5972

N. diseases: 721; N. variants: 25
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: rs121917742
rs121917742 		1.000 0.120 1 204159399 missense variant C/T snv 4.0E-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 0.800 1.000 1 2005 2005
dbSNP: rs121917743
rs121917743 		1.000 0.160 1 204166247 missense variant A/C;T snv
CUI: C2751310
Disease: Hyperuricemic Nephropathy, Familial Juvenile 2
Hyperuricemic Nephropathy, Familial Juvenile 2 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2009 2009
dbSNP: rs11571111
rs11571111 		1 204161105 intron variant C/A snv 5.0E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11571111
rs11571111 		1 204161105 intron variant C/A snv 5.0E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11571111
rs11571111 		1 204161105 intron variant C/A snv 5.0E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11571111
rs11571111 		1 204161105 intron variant C/A snv 5.0E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12040249
rs12040249 		1.000 0.040 1 204189100 intron variant G/A snv 0.39
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs193280350
rs193280350 		1 204179521 intron variant G/A snv 7.6E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6668858
rs6668858 		1 204166660 intron variant G/A snv 9.7E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6668858
rs6668858 		1 204166660 intron variant G/A snv 9.7E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6668858
rs6668858 		1 204166660 intron variant G/A snv 9.7E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6668858
rs6668858 		1 204166660 intron variant G/A snv 9.7E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs72749713
rs72749713 		1 204176450 intron variant G/A snv 2.6E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs121917740
rs121917740 		1.000 1 204155078 stop gained G/A snv
CUI: C4016362
Disease: HYPERPRORENINEMIA, FAMILIAL
HYPERPRORENINEMIA, FAMILIAL 		0.700 0
dbSNP: rs121917741
rs121917741 		1.000 0.120 1 204162117 stop gained G/A snv 4.8E-05 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 0.700 0
dbSNP: rs397514690
rs397514690 		1.000 0.120 1 204162135 stop gained G/A snv 1.2E-05 2.8E-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: rs397514691
rs397514691 		1.000 0.120 1 204160648 missense variant G/T snv
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: rs868694193
rs868694193 		1.000 0.120 1 204161355 missense variant C/T snv 4.1E-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: rs777208537
rs777208537 		1.000 0.040 1 204156313 synonymous variant A/G snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.030 1.000 3 1999 2003
dbSNP: rs1419147995
rs1419147995 		1.000 1 204159421 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0748073
Disease: psychosocial stressor
psychosocial stressor 		0.010 1.000 1 2006 2006
dbSNP: rs144219651
rs144219651 		0.925 0.080 1 204162017 missense variant A/T snv 8.0E-06 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs144219651
rs144219651 		0.925 0.080 1 204162017 missense variant A/T snv 8.0E-06 2.1E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1464816
rs1464816 		1.000 0.120 1 204159726 intron variant T/C;G snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1464816
rs1464816 		1.000 0.120 1 204159726 intron variant T/C;G snv
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2368564
rs2368564 		1.000 0.040 1 204155737 intron variant C/G;T snv
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2018 2018