AQP2, aquaporin 2, 359

N. diseases: 114; N. variants: 41
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT ×
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: rs104894332
rs104894332 		0.851 0.080 12 49955564 missense variant G/A snv
CUI: C4015885
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1565637179
rs1565637179 		1.000 12 49955512 frameshift variant G/- delins
CUI: C4015885
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1565637189
rs1565637189 		1.000 12 49955518 frameshift variant G/- delins
CUI: C4015885
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT 		0.700 0