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: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C1719672
Disease: Severe Sepsis
Severe Sepsis
0.010 1.000 1 2014 2014
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus
0.010 1.000 1 2014 2014
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 1.000 1 2014 2014
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2014 2014
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
0.010 1.000 1 2014 2014
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 1.000 1 2014 2014
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 1.000 1 2014 2014
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0343386
Disease: Clostridium difficile infection
Clostridium difficile infection
0.010 1.000 1 2014 2014
dbSNP: rs1126647
rs1126647
0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 1.000 1 2015 2015
dbSNP: rs2227306
rs2227306
0.677 0.680 4 73741338 intron variant C/T snv 0.31
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs2227306
rs2227306
0.677 0.680 4 73741338 intron variant C/T snv 0.31
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
0.010 1.000 1 2015 2015
dbSNP: rs2227306
rs2227306
0.677 0.680 4 73741338 intron variant C/T snv 0.31
Liver and Intrahepatic Biliary Tract Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs2227532
rs2227532
0.882 0.120 4 73739815 upstream gene variant T/C snv 2.9E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 1.000 1 2015 2015
dbSNP: rs2227532
rs2227532
0.882 0.120 4 73739815 upstream gene variant T/C snv 2.9E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs373821605
rs373821605
1.000 0.120 4 73741652 missense variant C/T snv 2.1E-05
TNF receptor-associated periodic fever syndrome (TRAPS)
0.010 1.000 1 2015 2015
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 1.000 1 2015 2015
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
Liver and Intrahepatic Biliary Tract Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
0.010 1.000 1 2015 2015
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 1.000 1 2015 2015
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 1.000 1 2015 2015
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 < 0.001 1 2015 2015
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.010 < 0.001 1 2015 2015
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.010 1.000 1 2015 2015
dbSNP: rs4073
rs4073
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.010 1.000 1 2015 2015