SPP1, secreted phosphoprotein 1, 6696

N. diseases: 824; N. variants: 13
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: rs17524488
rs17524488 		0.925 0.040 4 87975555 non coding transcript exon variant -/G delins
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1126772
rs1126772 		0.851 0.320 4 87983034 3 prime UTR variant A/G snv 0.16
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11728697
rs11728697 		0.925 0.080 4 87977789 non coding transcript exon variant C/T snv 0.54 0.46
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4754
rs4754 		0.752 0.360 4 87981540 missense variant T/A;C snv 0.32
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2853749
rs2853749 		0.882 0.160 4 87976662 intron variant C/T snv 0.34
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs4754
rs4754 		0.752 0.360 4 87981540 missense variant T/A;C snv 0.32
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1126772
rs1126772 		0.851 0.320 4 87983034 3 prime UTR variant A/G snv 0.16
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs11730582
rs11730582 		0.807 0.240 4 87975269 non coding transcript exon variant T/C snv 0.37
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2728127
rs2728127 		0.882 0.120 4 87973963 upstream gene variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1126616
rs1126616 		0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs4754
rs4754 		0.752 0.360 4 87981540 missense variant T/A;C snv 0.32
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs9138
rs9138 		0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs28357094
rs28357094 		0.882 0.160 4 87975645 non coding transcript exon variant T/G snv 0.17
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs28357094
rs28357094 		0.882 0.160 4 87975645 non coding transcript exon variant T/G snv 0.17
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4754
rs4754 		0.752 0.360 4 87981540 missense variant T/A;C snv 0.32
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1126616
rs1126616 		0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11728697
rs11728697 		0.925 0.080 4 87977789 non coding transcript exon variant C/T snv 0.54 0.46
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2853744
rs2853744 		0.882 0.200 4 87975096 non coding transcript exon variant G/T snv 0.14
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2853749
rs2853749 		0.882 0.160 4 87976662 intron variant C/T snv 0.34
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4754
rs4754 		0.752 0.360 4 87981540 missense variant T/A;C snv 0.32
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1126616
rs1126616 		0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1126616
rs1126616 		0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2013 2017
dbSNP: rs9138
rs9138 		0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2013 2017
dbSNP: rs2853744
rs2853744 		0.882 0.200 4 87975096 non coding transcript exon variant G/T snv 0.14
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2728127
rs2728127 		0.882 0.120 4 87973963 upstream gene variant A/G;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011