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: 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
dbSNP: rs11896604
rs11896604 		0.776 0.200 2 54252062 intron variant C/A;G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs11896604
rs11896604 		0.776 0.200 2 54252062 intron variant C/A;G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11896604
rs11896604 		0.776 0.200 2 54252062 intron variant C/A;G;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs11896604
rs11896604 		0.776 0.200 2 54252062 intron variant C/A;G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11896604
rs11896604 		0.776 0.200 2 54252062 intron variant C/A;G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11896604
rs11896604 		0.776 0.200 2 54252062 intron variant C/A;G;T snv
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11896604
rs11896604 		0.776 0.200 2 54252062 intron variant C/A;G;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017