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: rs12122803
rs12122803 		1 169825364 intron variant A/G snv 1.4E-02
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1458766475
rs1458766475 		0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs185120584
rs185120584 		1 169689987 intron variant C/T snv 7.6E-03
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs5361
rs5361 		0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs12938
rs12938 		0.851 0.160 1 169691640 3 prime UTR variant A/G snv 0.27
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1131498
rs1131498 		0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5355
rs5355 		0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3917412
rs3917412 		1.000 0.040 1 169731361 intron variant T/A;C;G snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2014 2014
dbSNP: rs1131498
rs1131498 		0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 < 0.001 1 2018 2018
dbSNP: rs5361
rs5361 		0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2013
dbSNP: rs1458766475
rs1458766475 		0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3917412
rs3917412 		1.000 0.040 1 169731361 intron variant T/A;C;G snv
CUI: C0280252
Disease: stage, colon cancer
stage, colon cancer 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1458766475
rs1458766475 		0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2020 2020
dbSNP: rs5361
rs5361 		0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1458766475
rs1458766475 		0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs5361
rs5361 		0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1458766475
rs1458766475 		0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C3887499
Disease: Renal cyst
Renal cyst 		Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2020 2020
dbSNP: rs5361
rs5361 		0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C3887499
Disease: Renal cyst
Renal cyst 		Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2020 2020
dbSNP: rs3917412
rs3917412 		1.000 0.040 1 169731361 intron variant T/A;C;G snv
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2014 2014
dbSNP: rs1805193
rs1805193 		1.000 0.040 1 169733631 5 prime UTR variant C/A snv 8.3E-02 7.8E-02
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		Stomatognathic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs5361
rs5361 		0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		Stomatognathic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1458766475
rs1458766475 		0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 0.500 2 2010 2014
dbSNP: rs5361
rs5361 		0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 0.500 2 2010 2014
dbSNP: rs1458766475
rs1458766475 		0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs5361
rs5361 		0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2003 2003