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: 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: rs2853749
rs2853749
0.882 0.160 4 87976662 intron variant C/T snv 0.34
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
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: rs1370031102
rs1370031102
1.000 0.080 4 87982700 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.020 0.500 2 2002 2017
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: 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: rs4754
rs4754
0.752 0.360 4 87981540 missense variant T/A;C snv 0.32
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs4754
rs4754
0.752 0.360 4 87981540 missense variant T/A;C snv 0.32
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4754
rs4754
0.752 0.360 4 87981540 missense variant T/A;C snv 0.32
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 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: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4754
rs4754
0.752 0.360 4 87981540 missense variant T/A;C snv 0.32
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 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: C0004153
Disease: Atherosclerosis
Atherosclerosis
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: rs4754
rs4754
0.752 0.360 4 87981540 missense variant T/A;C snv 0.32
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4754
rs4754
0.752 0.360 4 87981540 missense variant T/A;C snv 0.32
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System 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: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs28357094
rs28357094
0.882 0.160 4 87975645 non coding transcript exon variant T/G snv 0.17
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.050 1.000 5 2012 2017
dbSNP: rs11439060
rs11439060
1.000 0.120 4 87975555 non coding transcript exon variant -/G delins
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 0.500 2 2014 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: 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: rs11730582
rs11730582
0.807 0.240 4 87975269 non coding transcript exon variant T/C snv 0.37
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
Musculoskeletal Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs11730582
rs11730582
0.807 0.240 4 87975269 non coding transcript exon variant T/C snv 0.37
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs11730582
rs11730582
0.807 0.240 4 87975269 non coding transcript exon variant T/C snv 0.37
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11730582
rs11730582
0.807 0.240 4 87975269 non coding transcript exon variant T/C snv 0.37
Secondary malignant neoplasm of lymph node
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs11730582
rs11730582
0.807 0.240 4 87975269 non coding transcript exon variant T/C snv 0.37
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia
0.010 1.000 1 2017 2017