AQP2, aquaporin 2, 359

N. diseases: 114; N. variants: 41
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE ×
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: rs104894326
rs104894326 		0.925 0.080 12 49951020 missense variant G/A snv 1.6E-05
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs104894328
rs104894328 		0.851 0.080 12 49954663 missense variant C/T snv 4.8E-05 4.9E-05
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs104894329
rs104894329 		0.925 0.080 12 49955438 missense variant T/C snv
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs104894330
rs104894330 		0.882 0.080 12 49954171 missense variant C/A;T snv 4.1E-06; 2.5E-05
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs104894331
rs104894331 		0.925 0.080 12 49951033 missense variant A/C;G snv
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs104894333
rs104894333 		0.851 0.080 12 49954168 missense variant C/T snv 8.3E-06; 4.1E-06 2.1E-05
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs104894334
rs104894334 		0.851 0.200 12 49954233 missense variant G/A snv 5.3E-05 7.7E-05
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs104894335
rs104894335 		0.851 0.080 12 49954317 missense variant G/A snv
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs104894336
rs104894336 		0.925 0.080 12 49950894 missense variant C/G snv 3.2E-05 7.0E-06
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs104894337
rs104894337 		0.925 0.080 12 49954647 missense variant C/G;T snv 4.0E-06
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs104894338
rs104894338 		0.882 0.080 12 49951129 missense variant G/T snv 4.1E-06 7.0E-06
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs104894339
rs104894339 		0.851 0.080 12 49955577 missense variant C/G;T snv 5.0E-06; 5.5E-05
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs104894341
rs104894341 		0.925 0.080 12 49954672 missense variant G/A snv
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1565636541
rs1565636541 		1.000 12 49954163 frameshift variant C/- del
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs28931580
rs28931580 		0.882 0.080 12 49951000 missense variant A/C snv 2.4E-05
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		0.700 0