HMGB1, high mobility group box 1, 3146

N. diseases: 724; N. variants: 10
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: rs1045411
rs1045411 		0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR 		Eye Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 < 0.001 1 2019 2019
dbSNP: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 < 0.001 1 2019 2019
dbSNP: rs1045411
rs1045411 		0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2016 2017
dbSNP: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2017 2018
dbSNP: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2017 2018
dbSNP: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2017 2018
dbSNP: rs1412125
rs1412125 		0.724 0.360 13 30467458 intron variant C/G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2018
dbSNP: rs1412125
rs1412125 		0.724 0.360 13 30467458 intron variant C/G;T snv
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: rs1412125
rs1412125 		0.724 0.360 13 30467458 intron variant C/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2018
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.020 1.000 2 2012 2019
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2017
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.020 1.000 2 2012 2019
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2017
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2017
dbSNP: rs1045411
rs1045411 		0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1045411
rs1045411 		0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0694549
Disease: Community acquired pneumonia
Community acquired pneumonia 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1045411
rs1045411 		0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1045411
rs1045411 		0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1045411
rs1045411 		0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1045411
rs1045411 		0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0018081
Disease: Gonorrhea
Gonorrhea 		Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1045411
rs1045411 		0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2019 2019
dbSNP: rs1045411
rs1045411 		0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1045411
rs1045411 		0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1045411
rs1045411 		0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017