AVP, arginine vasopressin, 551

N. diseases: 454; N. variants: 27
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: rs1049648051
rs1049648051 		1.000 0.080 20 3082758 missense variant G/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 0.010 1.000 1 2001 2001
dbSNP: rs1051744
rs1051744 		1.000 0.080 20 3082769 missense variant C/A snv
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2002 2002
dbSNP: rs121964884
rs121964884 		0.851 0.200 20 3083005 stop gained G/A;T snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs121964884
rs121964884 		0.851 0.200 20 3083005 stop gained G/A;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121964884
rs121964884 		0.851 0.200 20 3083005 stop gained G/A;T snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs121964893
rs121964893 		0.925 0.120 20 3084614 missense variant A/G snv
CUI: C4331824
Disease: Autosomal Dominant Neurohypophyseal Diabetes Insipidus
Autosomal Dominant Neurohypophyseal Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1257821596
rs1257821596 		1.000 0.040 20 3083027 frameshift variant -/C delins 7.0E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1390699295
rs1390699295 		1.000 0.080 20 3083072 missense variant T/G snv 5.6E-06
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2002 2002
dbSNP: rs2282018
rs2282018 		1.000 0.040 20 3084303 intron variant C/T snv 0.60
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6084264
rs6084264 		1.000 0.040 20 3089925 upstream gene variant T/C snv 0.58
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs765019311
rs765019311 		0.925 0.040 20 3082716 missense variant C/A;G;T snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs765019311
rs765019311 		0.925 0.040 20 3082716 missense variant C/A;G;T snv
CUI: C0154971
Disease: Presenile cataract
Presenile cataract 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs857240
rs857240 		1.000 0.040 20 3094983 downstream gene variant T/A;C snv
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM 		Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs867198716
rs867198716 		1.000 0.040 20 3082775 missense variant C/T snv 7.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs142886338
rs142886338 		1.000 0.120 20 3084598 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 20 1992 2004
dbSNP: rs1057516192
rs1057516192 		1.000 0.120 20 3083168 missense variant C/A snv
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121964884
rs121964884 		0.851 0.200 20 3083005 stop gained G/A;T snv
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121964889
rs121964889 		1.000 0.120 20 3082788 stop gained C/A;T snv
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121964892
rs121964892 		1.000 20 3084655 missense variant G/A snv
CUI: C4016430
Disease: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs121964882
rs121964882 		1.000 0.120 20 3083037 missense variant C/T snv
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2004
dbSNP: rs121964883
rs121964883 		1.000 0.120 20 3083156 missense variant C/A snv
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2004
dbSNP: rs121964885
rs121964885 		1.000 0.120 20 3083022 missense variant C/A snv
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2004
dbSNP: rs121964886
rs121964886 		1.000 0.120 20 3083012 missense variant C/A snv
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2004
dbSNP: rs121964887
rs121964887 		1.000 0.120 20 3083138 missense variant C/A snv
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2004
dbSNP: rs121964888
rs121964888 		1.000 0.120 20 3083139 missense variant C/G snv
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2004