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: rs137852635
rs137852635 		1.000 0.120 12 6348198 missense variant G/A snv 1.2E-05
CUI: C1449843
Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 3 1999 2008
dbSNP: rs201873521
rs201873521 		1.000 12 6349331 missense variant A/G snv 9.2E-05 1.6E-04
CUI: C4748292
Disease: LIDDLE SYNDROME 3
LIDDLE SYNDROME 3 		0.800 1.000 1 2017 2017
dbSNP: rs3782724
rs3782724 		1.000 0.080 12 6356915 intron variant A/G snv 0.19
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs61759861
rs61759861 		1.000 0.040 12 6374444 missense variant C/T snv 6.8E-05 1.7E-04
CUI: C2751666
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 		Respiratory Tract Diseases 0.800 1.000 1 2009 2009
dbSNP: rs1555112332
rs1555112332 		1.000 0.040 12 6355814 frameshift variant G/- delins
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis 		Respiratory Tract Diseases 0.700 1.000 2 1999 2013
dbSNP: rs55797039
rs55797039 		1.000 12 6363586 missense variant G/A;T snv 1.9E-02; 7.9E-05
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.700 1.000 1 2019 2019
dbSNP: rs137852634
rs137852634 		0.925 0.160 12 6348981 stop gained G/A;C;T snv 1.6E-05; 8.0E-06
CUI: C1449843
Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive
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: rs61758859
rs61758859 		1.000 0.040 12 6374601 missense variant G/T snv
CUI: C2751666
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 		Respiratory Tract Diseases 0.700 0
dbSNP: rs61759860
rs61759860 		1.000 0.040 12 6374543 missense variant G/A snv
CUI: C2751666
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 		Respiratory Tract Diseases 0.700 0
dbSNP: rs974854786
rs974854786 		1.000 0.120 12 6355777 missense variant C/A;T snv 4.0E-06
CUI: C1449843
Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive
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: rs11064153
rs11064153 		12 6379284 intron variant T/C snv 0.31
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11542844
rs11542844 		1.000 0.040 12 6355415 missense variant C/T snv 7.9E-02 0.17
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs137852634
rs137852634 		0.925 0.160 12 6348981 stop gained G/A;C;T snv 1.6E-05; 8.0E-06
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2228576
rs2228576 		0.851 0.160 12 6347896 missense variant T/A;C;G snv 4.5E-06; 0.69
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2228576
rs2228576 		0.851 0.160 12 6347896 missense variant T/A;C;G snv 4.5E-06; 0.69
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2228576
rs2228576 		0.851 0.160 12 6347896 missense variant T/A;C;G snv 4.5E-06; 0.69
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2228576
rs2228576 		0.851 0.160 12 6347896 missense variant T/A;C;G snv 4.5E-06; 0.69
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs573049175
rs573049175 		1.000 0.040 12 6347921 synonymous variant C/T snv 4.3E-05 2.1E-05
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5742912
rs5742912 		0.925 0.160 12 6349184 missense variant A/G snv 1.9E-02 1.7E-02
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5742912
rs5742912 		0.925 0.160 12 6349184 missense variant A/G snv 1.9E-02 1.7E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5742912
rs5742912 		0.925 0.160 12 6349184 missense variant A/G snv 1.9E-02 1.7E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs776069930
rs776069930 		1.000 0.080 12 6362199 missense variant A/G snv 4.0E-06
CUI: C0268785
Disease: Salt-losing nephropathy
Salt-losing nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs7956915
rs7956915 		1.000 0.080 12 6361094 intron variant A/G snv 0.52
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7973914
rs7973914 		0.925 0.080 12 6367557 intron variant C/T snv 0.41
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7973914
rs7973914 		0.925 0.080 12 6367557 intron variant C/T snv 0.41
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015