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
4 87976662 intron variant C/T snp 0.35
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 2 2011 2013
dbSNP: rs28357094
rs28357094
0.923 0.143 4 87975645 regulatory region variant T/G snp 0.18
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.040 1.000 4 2012 2016
dbSNP: rs11439060
rs11439060
1.000 0.107 4 87975555 regulatory region variant T/TG,TTG in-del 0.35
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.020 0.500 2 2015 2015
dbSNP: rs4754
rs4754
0.878 0.071 4 87981540 splice region variant T/A,C snp 0.32 0.27
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.020 1.000 2 2015 2017
dbSNP: rs4754
rs4754
0.878 0.071 4 87981540 splice region variant T/A,C snp 0.32 0.27
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.020 1.000 2 2015 2017
dbSNP: rs9138
rs9138
0.784 0.179 4 87983190 3 prime UTR variant A/C,T snp 0.27; 2.2E-04
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.020 0.500 2 2015 2015
dbSNP: rs1126616
rs1126616
0.923 0.143 4 87982701 synonymous variant C/T snp 0.32 0.27
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Immune System Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1126616
rs1126616
0.923 0.143 4 87982701 synonymous variant C/T snp 0.32 0.27
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1126772
rs1126772
0.923 0.071 4 87983034 3 prime UTR variant A/G snp 0.16
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1126772
rs1126772
0.923 0.071 4 87983034 3 prime UTR variant A/G snp 0.16
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs2728127
rs2728127
1.000 0.036 4 87973963 regulatory region variant A/G,T snp 0.38
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs28357094
rs28357094
0.923 0.143 4 87975645 regulatory region variant T/G snp 0.18
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4754
rs4754
0.878 0.071 4 87981540 splice region variant T/A,C snp 0.32 0.27
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs747523005
rs747523005
1.000 0.036 4 87981700 missense variant C/T snp 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
Neoplasms; Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs747523005
rs747523005
1.000 0.036 4 87981700 missense variant C/T snp 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Neoplasms; Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs747523005
rs747523005
1.000 0.036 4 87981700 missense variant C/T snp 4.0E-06
CUI: C0014175
Disease: Endometriosis
Endometriosis
Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs754893810
rs754893810
1.000 0.107 4 87982892 missense variant A/G snp 1.7E-05
Dianzani autoimmune lymphoproliferative syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Immune System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs768385423
rs768385423
1.000 0.107 4 87981716 missense variant T/C snp
Dianzani autoimmune lymphoproliferative syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Immune System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs9138
rs9138
0.784 0.179 4 87983190 3 prime UTR variant A/C,T snp 0.27; 2.2E-04
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs9138
rs9138
0.784 0.179 4 87983190 3 prime UTR variant A/C,T snp 0.27; 2.2E-04
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs9138
rs9138
0.784 0.179 4 87983190 3 prime UTR variant A/C,T snp 0.27; 2.2E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs9138
rs9138
0.784 0.179 4 87983190 3 prime UTR variant A/C,T snp 0.27; 2.2E-04
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Immune System Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs9138
rs9138
0.784 0.179 4 87983190 3 prime UTR variant A/C,T snp 0.27; 2.2E-04
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs9138
rs9138
0.784 0.179 4 87983190 3 prime UTR variant A/C,T snp 0.27; 2.2E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.010 1.000 1 2012 2012