HPSE, heparanase, 10855

N. diseases: 393; N. variants: 12
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: rs11732810
rs11732810 		4 83309725 intron variant T/G snv 0.71
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4693608
rs4693608 		0.827 0.200 4 83320204 intron variant G/A;C snv
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		Immune System Diseases 0.020 1.000 2 2010 2014
dbSNP: rs11099592
rs11099592 		0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs11099592
rs11099592 		0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs11099592
rs11099592 		0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2010 2010
dbSNP: rs11099592
rs11099592 		0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2007 2007
dbSNP: rs11099592
rs11099592 		0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs12331678
rs12331678 		0.925 0.120 4 83303254 intron variant T/G snv 0.82
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs12331678
rs12331678 		0.925 0.120 4 83303254 intron variant T/G snv 0.82
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs12503843
rs12503843 		0.925 0.120 4 83300266 intron variant A/G snv 0.63
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs12503843
rs12503843 		0.925 0.120 4 83300266 intron variant A/G snv 0.63
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs144246695
rs144246695 		0.851 0.160 4 83310887 missense variant G/A snv 8.0E-06
CUI: C4511035
Disease: Isolated thrombocytopenia
Isolated thrombocytopenia 		0.010 1.000 1 2003 2003
dbSNP: rs144246695
rs144246695 		0.851 0.160 4 83310887 missense variant G/A snv 8.0E-06
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs144246695
rs144246695 		0.851 0.160 4 83310887 missense variant G/A snv 8.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs144246695
rs144246695 		0.851 0.160 4 83310887 missense variant G/A snv 8.0E-06
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion 		Eye Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4328905
rs4328905 		4 83322396 intron variant A/G snv 0.18 0.18
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2010 2010
dbSNP: rs4364254
rs4364254 		0.882 0.080 4 83302560 intron variant C/T snv 0.63
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4364254
rs4364254 		0.882 0.080 4 83302560 intron variant C/T snv 0.63
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs4364254
rs4364254 		0.882 0.080 4 83302560 intron variant C/T snv 0.63
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs4693602
rs4693602 		1.000 0.040 4 83292466 3 prime UTR variant A/G snv 0.71
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs4693608
rs4693608 		0.827 0.200 4 83320204 intron variant G/A;C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs4693608
rs4693608 		0.827 0.200 4 83320204 intron variant G/A;C snv
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4693608
rs4693608 		0.827 0.200 4 83320204 intron variant G/A;C snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4693608
rs4693608 		0.827 0.200 4 83320204 intron variant G/A;C snv
CUI: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs4693608
rs4693608 		0.827 0.200 4 83320204 intron variant G/A;C snv
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012