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: rs2608894
rs2608894 		19 5847989 intron variant T/C snv 0.79
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs28362458
rs28362458 		19 5844827 missense variant C/T snv 1.0E-02 4.3E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs28362458
rs28362458 		19 5844827 missense variant C/T snv 1.0E-02 4.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs28362458
rs28362458 		19 5844827 missense variant C/T snv 1.0E-02 4.3E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs778986
rs778986 		1.000 0.080 19 5844526 missense variant A/G snv 0.84 0.84
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs778986
rs778986 		1.000 0.080 19 5844526 missense variant A/G snv 0.84 0.84
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs812936
rs812936 		1.000 0.080 19 5844638 missense variant G/A;C snv 0.83
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2306969
rs2306969 		0.925 0.040 19 5851790 intron variant A/G snv 0.76
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2306969
rs2306969 		0.925 0.040 19 5851790 intron variant A/G snv 0.76
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2306969
rs2306969 		0.925 0.040 19 5851790 intron variant A/G snv 0.76
CUI: C3150911
Disease: GASTRIC CANCER, INTESTINAL
GASTRIC CANCER, INTESTINAL 		0.010 1.000 1 2019 2019
dbSNP: rs2306969
rs2306969 		0.925 0.040 19 5851790 intron variant A/G snv 0.76
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs28362459
rs28362459 		0.925 0.040 19 5844781 missense variant A/C;G;T snv 0.18; 1.2E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs28362459
rs28362459 		0.925 0.040 19 5844781 missense variant A/C;G;T snv 0.18; 1.2E-05
CUI: C0860168
Disease: Distal colitis
Distal colitis 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs28362459
rs28362459 		0.925 0.040 19 5844781 missense variant A/C;G;T snv 0.18; 1.2E-05
CUI: C0009319
Disease: Colitis
Colitis 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3745635
rs3745635 		0.882 0.040 19 5844332 missense variant C/T snv 8.5E-02 0.11
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3745635
rs3745635 		0.882 0.040 19 5844332 missense variant C/T snv 8.5E-02 0.11
CUI: C0860168
Disease: Distal colitis
Distal colitis 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3745635
rs3745635 		0.882 0.040 19 5844332 missense variant C/T snv 8.5E-02 0.11
CUI: C0009319
Disease: Colitis
Colitis 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs73920070
rs73920070 		1.000 0.040 19 5851772 intron variant G/A snv 1.8E-02
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs778986
rs778986 		1.000 0.080 19 5844526 missense variant A/G snv 0.84 0.84
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs812936
rs812936 		1.000 0.080 19 5844638 missense variant G/A;C snv 0.83
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016