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: rs387906402
rs387906402
1.000 0.120 16 23380725 missense variant C/G;T snv
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.820 1.000 8 1995 2017
dbSNP: rs137852707
rs137852707
1.000 0.120 16 23380736 missense variant T/C snv
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 6 1995 2005
dbSNP: rs137852708
rs137852708
1.000 0.120 16 23380727 missense variant C/T snv
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 6 1995 2005
dbSNP: rs137852709
rs137852709
1.000 0.040 16 23367879 missense variant C/T snv
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
Respiratory Tract Diseases 0.800 1.000 3 2005 2009
dbSNP: rs137852710
rs137852710
1.000 0.040 16 23380493 missense variant G/A snv 8.0E-06 7.0E-06
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
Respiratory Tract Diseases 0.800 1.000 3 2005 2009
dbSNP: rs137852711
rs137852711
1.000 0.040 16 23371836 missense variant C/A snv 4.4E-05 1.3E-04
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
Respiratory Tract Diseases 0.800 1.000 3 2005 2009
dbSNP: rs137852712
rs137852712
1.000 0.040 16 23367942 missense variant A/G snv 8.0E-06
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
Respiratory Tract Diseases 0.800 1.000 3 2005 2009
dbSNP: rs35731153
rs35731153
1.000 0.040 16 23348844 missense variant C/G snv 4.8E-03 4.6E-03
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
Respiratory Tract Diseases 0.800 1.000 3 2005 2009
dbSNP: rs137852705
rs137852705
1.000 0.120 16 23380731 missense variant C/G;T snv
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 7 1995 2008
dbSNP: rs137852704
rs137852704
0.882 0.160 16 23380574 stop gained C/G;T snv 4.0E-06
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis
Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs137852704
rs137852704
0.882 0.160 16 23380574 stop gained C/G;T snv 4.0E-06
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs137852704
rs137852704
0.882 0.160 16 23380574 stop gained C/G;T snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs137852704
rs137852704
0.882 0.160 16 23380574 stop gained C/G;T snv 4.0E-06
CUI: C0020621
Disease: Hypokalemia
Hypokalemia
Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs137852704
rs137852704
0.882 0.160 16 23380574 stop gained C/G;T snv 4.0E-06
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs137852704
rs137852704
0.882 0.160 16 23380574 stop gained C/G;T snv 4.0E-06
CUI: C1845206
Disease: Decreased circulating renin level
Decreased circulating renin level
0.700 1.000 1 2016 2016
dbSNP: rs137852706
rs137852706
1.000 0.120 16 23348708 missense variant G/A snv 2.4E-05 7.0E-06
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 1996 1996
dbSNP: rs1182475940
rs1182475940
1.000 0.120 16 23371805 stop gained C/A;G snv 7.0E-06
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs61759921
rs61759921
1.000 0.040 16 23371460 missense variant G/A snv 6.0E-05 7.7E-05
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
Respiratory Tract Diseases 0.700 0
dbSNP: rs72654338
rs72654338
1.000 0.040 16 23367959 missense variant G/A;T snv 7.2E-05
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
Respiratory Tract Diseases 0.700 0
dbSNP: rs777888930
rs777888930
1.000 0.080 16 23371350 stop gained C/A;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs149868979
rs149868979
1.000 0.120 16 23380566 missense variant G/A snv 1.5E-04 1.5E-04
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.020 1.000 2 2011 2017
dbSNP: rs1799979
rs1799979
1.000 0.040 16 23380659 missense variant C/G;T snv 8.1E-06; 2.1E-03
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.020 1.000 2 2004 2004
dbSNP: rs149868979
rs149868979
1.000 0.120 16 23380566 missense variant G/A snv 1.5E-04 1.5E-04
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1799979
rs1799979
1.000 0.040 16 23380659 missense variant C/G;T snv 8.1E-06; 2.1E-03
CUI: C0745130
Disease: Resistant hypertensive disorder
Resistant hypertensive disorder
Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1799980
rs1799980
16 23377219 missense variant G/T snv 9.8E-03 3.9E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2017 2017