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: rs1183385193
rs1183385193 		1.000 0.080 16 23186443 missense variant G/A snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs137853342
rs137853342 		1.000 16 23215237 stop gained G/A snv
CUI: C4748251
Disease: LIDDLE SYNDROME 2
LIDDLE SYNDROME 2 		0.700 0
dbSNP: rs1567262640
rs1567262640 		1.000 0.120 16 23189370 splice acceptor variant G/A snv
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: rs1567270184
rs1567270184 		1.000 16 23215268 frameshift variant AGCTC/- del
CUI: C4748251
Disease: LIDDLE SYNDROME 2
LIDDLE SYNDROME 2 		0.700 0
dbSNP: rs4401050
rs4401050 		16 23206081 intron variant C/G;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5736
rs5736 		1.000 0.120 16 23189600 missense variant G/A snv 4.1E-03 1.2E-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 2016 2016