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: rs397509434
rs397509434 		1.000 0.080 16 67436795 inframe deletion GCT/- del 1.4E-05
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387907117
rs387907117 		1.000 0.080 16 67436797 missense variant T/C snv 4.0E-06
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 12 1995 2007