AQP2, aquaporin 2, 359

N. diseases: 114; N. variants: 41
Disease: Hyponatremia ×
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: rs3741559
rs3741559 		1.000 0.160 12 49951193 splice region variant G/A snv 0.20 0.17
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs467323
rs467323 		12 49955982 3 prime UTR variant C/G;T snv
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011