Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs34000982
rs34000982
HMGB1
1.000 0.080 13 30459175 3 prime UTR variant -/ATTA delins 0.28
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2020 2020
dbSNP: rs1045411
rs1045411
HMGB1
0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0032285
Disease: Pneumonia
Pneumonia 		0.010 1.000 1 2019 2019
dbSNP: rs1045411
rs1045411
HMGB1
0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR 		0.010 < 0.001 1 2019 2019
dbSNP: rs1045411
rs1045411
HMGB1
0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0036690
Disease: Septicemia
Septicemia 		0.010 1.000 1 2019 2019
dbSNP: rs1045411
rs1045411
HMGB1
0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0243026
Disease: Sepsis
Sepsis 		0.010 1.000 1 2019 2019
dbSNP: rs1045411
rs1045411
HMGB1
0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0694549
Disease: Community acquired pneumonia
Community acquired pneumonia 		0.010 1.000 1 2019 2019
dbSNP: rs1360485
rs1360485
HMGB1
0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0243026
Disease: Sepsis
Sepsis 		0.010 < 0.001 1 2019 2019
dbSNP: rs1360485
rs1360485
HMGB1
0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0036690
Disease: Septicemia
Septicemia 		0.010 < 0.001 1 2019 2019
dbSNP: rs1412125
rs1412125
HMGB1
0.724 0.360 13 30467458 intron variant C/G;T snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs1412125
rs1412125
HMGB1
0.724 0.360 13 30467458 intron variant C/G;T snv
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR 		0.010 1.000 1 2019 2019
dbSNP: rs1412125
rs1412125
HMGB1
0.724 0.360 13 30467458 intron variant C/G;T snv
CUI: C0032285
Disease: Pneumonia
Pneumonia 		0.010 1.000 1 2019 2019
dbSNP: rs2249825
rs2249825
HMGB1
0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0032285
Disease: Pneumonia
Pneumonia 		0.010 1.000 1 2019 2019
dbSNP: rs2249825
rs2249825
HMGB1
0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0694549
Disease: Community acquired pneumonia
Community acquired pneumonia 		0.010 1.000 1 2019 2019
dbSNP: rs2249825
rs2249825
HMGB1
0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR 		0.010 1.000 1 2019 2019
dbSNP: rs1045411
rs1045411
HMGB1
0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs1045411
rs1045411
HMGB1
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 		0.010 1.000 1 2018 2018
dbSNP: rs1045411
rs1045411
HMGB1
0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485
HMGB1
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 		0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485
HMGB1
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) 		0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485
HMGB1
0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485
HMGB1
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 		0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485
HMGB1
0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485
HMGB1
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 		0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485
HMGB1
0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485
HMGB1
0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2018 2018