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: 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
dbSNP: rs121964890
rs121964890
1.000 0.120 20 3083039 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: rs121964891
rs121964891
1.000 0.120 20 3083024 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: rs121964893
rs121964893
0.925 0.120 20 3084614 missense variant A/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
dbSNP: rs28934878
rs28934878
1.000 0.120 20 3083099 missense variant A/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
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: 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