rs28931580, AQP2

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Nephrogenic Diabetes Insipidus, Type II
CUI: C1563706
Disease: Nephrogenic Diabetes Insipidus, Type II
24 0.882 0.080 12 49951000 missense variant A/C snv 2.4E-05 0.700 1.000 18 1994 2014
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
15 0.882 0.080 12 49951000 missense variant A/C snv 2.4E-05 0.700 0
Congenital Nephrogenic Diabetes Insipidus
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
8 0.882 0.080 12 49951000 missense variant A/C snv 2.4E-05 0.010 1.000 1 2002 2002