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: rs104894761
rs104894761 		0.882 0.240 X 153905915 missense variant C/G;T snv 5.7E-06
CUI: C1845202
Disease: Nephrogenic Syndrome of Inappropriate Antidiuresis
Nephrogenic Syndrome of Inappropriate Antidiuresis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.810 1.000 2 2005 2012
dbSNP: rs104894756
rs104894756 		0.882 0.240 X 153905916 missense variant G/A;T snv 5.7E-06
CUI: C1845202
Disease: Nephrogenic Syndrome of Inappropriate Antidiuresis
Nephrogenic Syndrome of Inappropriate Antidiuresis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 1 2005 2005
dbSNP: rs104894756
rs104894756 		0.882 0.240 X 153905916 missense variant G/A;T snv 5.7E-06
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.720 1.000 22 1992 2016
dbSNP: rs104894748
rs104894748 		0.925 0.080 X 153906059 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 0.710 1.000 21 1992 2006
dbSNP: rs104894754
rs104894754 		0.925 0.080 X 153905759 missense variant G/A snv
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 0.952 21 1992 2006
dbSNP: rs104894755
rs104894755 		0.925 0.080 X 153906108 missense variant G/A snv
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 0.952 21 1992 2006
dbSNP: rs104894748
rs104894748 		0.925 0.080 X 153906059 missense variant G/T snv
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 1 2000 2000
dbSNP: rs104894756
rs104894756 		0.882 0.240 X 153905916 missense variant G/A;T snv 5.7E-06
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 1 2006 2006
dbSNP: rs104894747
rs104894747 		0.925 0.080 X 153905901 missense variant C/A;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 1.000 20 1992 2006
dbSNP: rs104894749
rs104894749 		0.925 0.080 X 153906120 missense variant A/G 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 1.000 20 1992 2006
dbSNP: rs104894750
rs104894750 		0.925 0.080 X 153906113 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 1.000 20 1992 2006
dbSNP: rs104894752
rs104894752 		0.925 0.080 X 153906345 missense variant A/G 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 1.000 20 1992 2006
dbSNP: rs104894757
rs104894757 		0.925 0.080 X 153906047 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 1.000 20 1992 2006
dbSNP: rs104894758
rs104894758 		0.925 0.080 X 153905819 missense variant T/G 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 1.000 20 1992 2006
dbSNP: rs104894759
rs104894759 		0.925 0.080 X 153905643 missense variant T/A;C snv 1.7E-05
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 20 1992 2006
dbSNP: rs104894760
rs104894760 		0.851 0.080 X 153905816 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 1.000 20 1992 2006
dbSNP: rs193922122
rs193922122 		0.925 0.080 X 153906359 missense variant G/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 1.000 20 1992 2006
dbSNP: rs193922123
rs193922123 		0.925 0.080 X 153906575 missense variant C/A snv 5.8E-06
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 20 1992 2006
dbSNP: rs28935496
rs28935496 		0.925 0.080 X 153905843 missense variant C/T snv 5.6E-06
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 20 1992 2006
dbSNP: rs782806507
rs782806507 		0.925 0.080 X 153906110 missense variant C/T snv 5.5E-06
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 20 1992 2006
dbSNP: rs1557100594
rs1557100594 		0.925 0.080 X 153905887 inframe deletion TAC/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 1999 2015
dbSNP: rs1557100594
rs1557100594 		0.925 0.080 X 153905887 inframe deletion TAC/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 9 1999 2015
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