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: rs137853095
rs137853095 		0.851 0.160 17 42796244 missense variant C/T snv 1.5E-04 2.4E-04
CUI: C1840390
Disease: Pseudohypoaldosteronism, Type IIb
Pseudohypoaldosteronism, Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2001 2013
dbSNP: rs139877390
rs139877390 		1.000 0.080 17 42798167 missense variant T/C snv 1.7E-04; 4.0E-06 1.2E-04
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs193922737
rs193922737 		1.000 0.120 17 42796196 missense variant A/G snv
CUI: C1840390
Disease: Pseudohypoaldosteronism, Type IIb
Pseudohypoaldosteronism, Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs757472611
rs757472611 		1.000 0.080 17 42798482 frameshift variant -/G delins 4.0E-06 1.4E-05
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137853095
rs137853095 		0.851 0.160 17 42796244 missense variant C/T snv 1.5E-04 2.4E-04
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs137853095
rs137853095 		0.851 0.160 17 42796244 missense variant C/T snv 1.5E-04 2.4E-04
CUI: C4288936
Disease: Hyperkalemic Mineralocorticoid Resistance
Hyperkalemic Mineralocorticoid Resistance 		0.010 1.000 1 2013 2013
dbSNP: rs137853095
rs137853095 		0.851 0.160 17 42796244 missense variant C/T snv 1.5E-04 2.4E-04
CUI: C1449844
Disease: Pseudohypoaldosteronism, Type II
Pseudohypoaldosteronism, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs56116165
rs56116165 		1.000 0.080 17 42796301 missense variant C/G;T snv 4.1E-06; 5.7E-03
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2011 2011