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: rs12721613
rs12721613
1.000 0.080 3 119807329 missense variant C/T snv 9.8E-03 3.8E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs12721613
rs12721613
1.000 0.080 3 119807329 missense variant C/T snv 9.8E-03 3.8E-02
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs1879997
rs1879997
3 119802381 intron variant T/C snv 0.97
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: 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
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
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: 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: rs3814058
rs3814058
0.851 0.120 3 119818444 3 prime UTR variant T/C snv 0.28
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2018
dbSNP: rs3814058
rs3814058
0.851 0.120 3 119818444 3 prime UTR variant T/C snv 0.28
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2018
dbSNP: rs3814058
rs3814058
0.851 0.120 3 119818444 3 prime UTR variant T/C snv 0.28
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2018
dbSNP: rs6785049
rs6785049
0.882 0.080 3 119814886 intron variant G/A;T snv 0.46
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.020 1.000 2 2011 2011
dbSNP: rs6785049
rs6785049
0.882 0.080 3 119814886 intron variant G/A;T snv 0.46
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
Digestive System Diseases 0.020 1.000 2 2017 2019
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: rs12721613
rs12721613
1.000 0.080 3 119807329 missense variant C/T snv 9.8E-03 3.8E-02
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy
Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2008 2008
dbSNP: rs13059232
rs13059232
1.000 0.080 3 119802208 intron variant T/C snv 0.59
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1478478283
rs1478478283
0.925 0.080 3 119812726 missense variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1478478283
rs1478478283
0.925 0.080 3 119812726 missense variant C/T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
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: rs1523128
rs1523128
0.882 0.080 3 119781817 5 prime UTR variant A/G snv 0.89
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1523128
rs1523128
0.882 0.080 3 119781817 5 prime UTR variant A/G snv 0.89
CUI: C0031099
Disease: Periodontitis
Periodontitis
Stomatognathic Diseases 0.010 1.000 1 2012 2012