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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2015 2015
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
dbSNP: rs2728127
rs2728127
0.882 0.120 4 87973963 upstream gene variant A/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 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: 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: 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: 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: rs2853744
rs2853744
0.882 0.200 4 87975096 non coding transcript exon variant G/T snv 0.14
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 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: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
Pathological Conditions, Signs and Symptoms; Cardiovascular 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: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia
0.010 1.000 1 2017 2017
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: rs9138
rs9138
0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9138
rs9138
0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.010 1.000 1 2011 2011
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: rs9138
rs9138
0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9138
rs9138
0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv
CUI: C0035851
Disease: Root Resorption
Root Resorption
Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs9138
rs9138
0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs9138
rs9138
0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs9138
rs9138
0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs9138
rs9138
0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
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: 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: rs1126616
rs1126616
0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26
CUI: C0451641
Disease: Urolithiasis
Urolithiasis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2013 2015
dbSNP: rs1126616
rs1126616
0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2002 2019
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