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: rs1045411
rs1045411 		0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0032285
Disease: Pneumonia
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: C1719672
Disease: Severe Sepsis
Severe Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 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: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2019 2019
dbSNP: rs12861824
rs12861824 		13 30505047 intron variant T/C snv 0.26
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
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: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485 		0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1412125
rs1412125 		0.724 0.360 13 30467458 intron variant C/G;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1412125
rs1412125 		0.724 0.360 13 30467458 intron variant C/G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1412125
rs1412125 		0.724 0.360 13 30467458 intron variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1412125
rs1412125 		0.724 0.360 13 30467458 intron variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1412125
rs1412125 		0.724 0.360 13 30467458 intron variant C/G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1412125
rs1412125 		0.724 0.360 13 30467458 intron variant C/G;T snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1412125
rs1412125 		0.724 0.360 13 30467458 intron variant C/G;T snv
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR 		Eye Diseases 0.010 1.000 1 2019 2019