IAPP, islet amyloid polypeptide, 3375

N. diseases: 183; N. variants: 3
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: rs144436375
rs144436375 		12 21362566 intron variant A/C snv 4.3E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1466929132
rs1466929132 		0.925 0.200 12 21378325 missense variant G/A;C snv 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.050 1.000 5 1996 2019
dbSNP: rs73069071
rs73069071 		0.807 0.240 12 21357370 intron variant T/C snv 0.14
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2016 2017
dbSNP: rs1466929132
rs1466929132 		0.925 0.200 12 21378325 missense variant G/A;C snv 4.0E-06
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1466929132
rs1466929132 		0.925 0.200 12 21378325 missense variant G/A;C snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs73069071
rs73069071 		0.807 0.240 12 21357370 intron variant T/C snv 0.14
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs73069071
rs73069071 		0.807 0.240 12 21357370 intron variant T/C snv 0.14
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs73069071
rs73069071 		0.807 0.240 12 21357370 intron variant T/C snv 0.14
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs73069071
rs73069071 		0.807 0.240 12 21357370 intron variant T/C snv 0.14
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		0.010 1.000 1 2016 2016
dbSNP: rs73069071
rs73069071 		0.807 0.240 12 21357370 intron variant T/C snv 0.14
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		Nervous System Diseases 0.010 1.000 1 2016 2016