ACYP2, acylphosphatase 2, 98

N. diseases: 42; N. variants: 20
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: rs1075265
rs1075265 		2 54127790 intron variant C/G;T snv
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		0.700 1.000 2 2016 2017
dbSNP: rs1559040
rs1559040 		2 54120613 intron variant C/T snv 0.11
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1559040
rs1559040 		2 54120613 intron variant C/T snv 0.11
CUI: C1720824
Disease: Sudden Cardiac Arrest
Sudden Cardiac Arrest 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs17189743
rs17189743 		2 54255416 missense variant G/A;C snv 2.8E-02; 4.0E-06; 8.0E-06 2.3E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs55930424
rs55930424 		2 54081860 intron variant G/A snv 0.17
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs843750
rs843750 		2 54277598 intron variant T/A snv 0.72
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs9808326
rs9808326 		2 54115971 intron variant G/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11125529
rs11125529 		0.882 0.280 2 54248729 intron variant C/A;T snv
CUI: C0008707
Disease: Chronic osteomyelitis
Chronic osteomyelitis 		Infections; Musculoskeletal Diseases 0.700 0
dbSNP: rs1682111
rs1682111 		0.742 0.240 2 54200842 intron variant A/T snv 0.56
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2017 2019
dbSNP: rs1682111
rs1682111 		0.742 0.240 2 54200842 intron variant A/T snv 0.56
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2017 2019
dbSNP: rs1682111
rs1682111 		0.742 0.240 2 54200842 intron variant A/T snv 0.56
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2017 2019
dbSNP: rs1682111
rs1682111 		0.742 0.240 2 54200842 intron variant A/T snv 0.56
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2018
dbSNP: rs1682111
rs1682111 		0.742 0.240 2 54200842 intron variant A/T snv 0.56
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2018
dbSNP: rs1872328
rs1872328 		0.827 0.120 2 54168122 intron variant G/A snv 7.3E-02
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2015 2016
dbSNP: rs843645
rs843645 		0.827 0.120 2 54247527 intron variant T/A;G snv 0.19
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2017 2019
dbSNP: rs843645
rs843645 		0.827 0.120 2 54247527 intron variant T/A;G snv 0.19
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2017 2019
dbSNP: rs843645
rs843645 		0.827 0.120 2 54247527 intron variant T/A;G snv 0.19
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2017 2019
dbSNP: rs843720
rs843720 		0.752 0.280 2 54283523 intron variant T/G snv 0.52
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2017 2019
dbSNP: rs843720
rs843720 		0.752 0.280 2 54283523 intron variant T/G snv 0.52
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2017 2019
dbSNP: rs843720
rs843720 		0.752 0.280 2 54283523 intron variant T/G snv 0.52
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2017 2019
dbSNP: rs10439478
rs10439478 		0.925 0.080 2 54232313 intron variant A/C;G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10439478
rs10439478 		0.925 0.080 2 54232313 intron variant A/C;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11125529
rs11125529 		0.882 0.280 2 54248729 intron variant C/A;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs11125529
rs11125529 		0.882 0.280 2 54248729 intron variant C/A;T snv
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11896604
rs11896604 		0.776 0.200 2 54252062 intron variant C/A;G;T snv
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019