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: rs387906511
rs387906511 		1.000 0.120 20 3084620 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: rs387906512
rs387906512 		1.000 0.120 20 3084619 missense variant G/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: rs74315383
rs74315383 		1.000 0.120 20 3082779 missense variant A/C 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: 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