PYY, peptide YY, 5697

N. diseases: 88; N. variants: 14
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: rs1188223411
rs1188223411
1.000 0.120 17 44005808 missense variant T/C snv
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 2005 2005
dbSNP: rs760267963
rs760267963
1.000 0.120 17 44005709 missense variant A/G snv 1.3E-05
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2003 2016
dbSNP: rs116953263
rs116953263
17 43952508 downstream gene variant C/T snv 3.0E-02
CUI: C0005938
Disease: Bone Density
Bone Density
0.700 1.000 1 2018 2018
dbSNP: rs121912591
rs121912591
1.000 0.120 17 44006157 missense variant G/A snv
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1251891037
rs1251891037
1.000 0.120 17 44006113 missense variant C/T snv 4.1E-06
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567941557
rs1567941557
1.000 0.120 17 44004765 frameshift variant -/AGATCGGAAGA ins
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs755257734
rs755257734
1.000 0.120 17 44005780 stop gained G/A;T snv 9.6E-06
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1058046
rs1058046
0.925 0.120 17 43953163 missense variant G/C snv 0.63 0.59
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1058046
rs1058046
0.925 0.120 17 43953163 missense variant G/C snv 0.63 0.59
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1258628899
rs1258628899
17 43953174 synonymous variant G/A snv 7.0E-06
CUI: C0020175
Disease: Hunger
Hunger
Behavior and Behavior Mechanisms 0.010 1.000 1 2008 2008
dbSNP: rs162430
rs162430
1.000 0.080 17 43953041 3 prime UTR variant G/A snv 0.23
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs162431
rs162431
1.000 0.040 17 43952807 3 prime UTR variant G/C;T snv 9.2E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2070592
rs2070592
1.000 0.040 17 43953963 5 prime UTR variant C/G;T snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267606994
rs267606994
1.000 0.080 17 43953299 missense variant T/C;G snv 8.2E-06
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs61612861
rs61612861
1.000 0.080 17 43953160 missense variant A/G snv 7.8E-03 3.2E-02
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004