AVPR2, arginine vasopressin receptor 2, 554

N. diseases: 134; N. variants: 38
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: rs104894747
rs104894747 		0.925 0.080 X 153905901 missense variant C/A;T snv
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894749
rs104894749 		0.925 0.080 X 153906120 missense variant A/G snv
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894750
rs104894750 		0.925 0.080 X 153906113 missense variant C/T snv
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894751
rs104894751 		0.925 0.080 X 153905719 stop gained G/A snv
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894752
rs104894752 		0.925 0.080 X 153906345 missense variant A/G snv
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894753
rs104894753 		0.925 0.080 X 153906621 stop gained C/T snv
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894754
rs104894754 		0.925 0.080 X 153905759 missense variant G/A snv
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894755
rs104894755 		0.925 0.080 X 153906108 missense variant G/A snv
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894757
rs104894757 		0.925 0.080 X 153906047 missense variant C/T snv
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894758
rs104894758 		0.925 0.080 X 153905819 missense variant T/G snv
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894759
rs104894759 		0.925 0.080 X 153905643 missense variant T/A;C snv 1.7E-05
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894760
rs104894760 		0.851 0.080 X 153905816 missense variant C/T snv
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894761
rs104894761 		0.882 0.240 X 153905915 missense variant C/G;T snv 5.7E-06
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057518723
rs1057518723 		1.000 0.080 X 153905841 missense variant G/T snv
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs149668713
rs149668713 		1.000 0.080 X 153906246 missense variant G/A snv 6.9E-04 2.1E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1557100304
rs1557100304 		1.000 0.080 X 153905168 frameshift variant C/- delins
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1557100594
rs1557100594 		0.925 0.080 X 153905887 inframe deletion TAC/- delins
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1557100610
rs1557100610 		1.000 0.080 X 153905910 missense variant T/C snv
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1557100917
rs1557100917 		1.000 0.080 X 153906363 missense variant C/T snv
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1569545523
rs1569545523 		1.000 0.080 X 153905608 frameshift variant G/- del
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs193922112
rs193922112 		0.925 0.080 X 153905682 missense variant T/C snv
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs193922112
rs193922112 		0.925 0.080 X 153905682 missense variant T/C snv
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs193922113
rs193922113 		1.000 0.080 X 153905796 missense variant T/C snv
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs193922114
rs193922114 		1.000 0.080 X 153905930 frameshift variant T/- del
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs193922115
rs193922115 		1.000 0.080 X 153905977 frameshift variant C/- delins
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0