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: rs1523130
rs1523130 		3 119780660 5 prime UTR variant T/C snv 0.47
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1879997
rs1879997 		3 119802381 intron variant T/C snv 0.97
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1879997
rs1879997 		3 119802381 intron variant T/C snv 0.97
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3732356
rs3732356 		3 119810266 non coding transcript exon variant G/T snv 0.87
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs984502020
rs984502020 		3 119807429 missense variant G/C snv
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2010 2010
dbSNP: rs1523127
rs1523127 		0.925 0.040 3 119782192 5 prime UTR variant C/A snv 0.48
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 1.000 2 2011 2011
dbSNP: rs3814055
rs3814055 		0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 1.000 2 2007 2011
dbSNP: rs12721602
rs12721602 		0.925 0.040 3 119781009 5 prime UTR variant G/A snv 1.5E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12721602
rs12721602 		0.925 0.040 3 119781009 5 prime UTR variant G/A snv 1.5E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12721607
rs12721607 		1.000 0.040 3 119807356 missense variant G/A snv 1.4E-02 1.5E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1523127
rs1523127 		0.925 0.040 3 119782192 5 prime UTR variant C/A snv 0.48
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1523127
rs1523127 		0.925 0.040 3 119782192 5 prime UTR variant C/A snv 0.48
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2276707
rs2276707 		0.925 0.040 3 119815306 intron variant C/G;T snv 4.1E-04; 0.24
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2276707
rs2276707 		0.925 0.040 3 119815306 intron variant C/G;T snv 4.1E-04; 0.24
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2276707
rs2276707 		0.925 0.040 3 119815306 intron variant C/G;T snv 4.1E-04; 0.24
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2472670
rs2472670 		0.925 0.040 3 119784158 intron variant C/T snv 0.71
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2472670
rs2472670 		0.925 0.040 3 119784158 intron variant C/T snv 0.71
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs3814055
rs3814055 		0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs3814055
rs3814055 		0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3814055
rs3814055 		0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3814057
rs3814057 		0.925 0.040 3 119818407 3 prime UTR variant A/C snv 0.28
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3814057
rs3814057 		0.925 0.040 3 119818407 3 prime UTR variant A/C snv 0.28
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3814057
rs3814057 		0.925 0.040 3 119818407 3 prime UTR variant A/C snv 0.28
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3814057
rs3814057 		0.925 0.040 3 119818407 3 prime UTR variant A/C snv 0.28
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs45610735
rs45610735 		1.000 0.040 3 119807356 missense variant G/A snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011