Source: ALL

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: rs2227306
rs2227306
0.677 0.680 4 73741338 intron variant C/T snv 0.31
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia
0.010 1.000 1 2019 2019
dbSNP: rs2227306
rs2227306
0.677 0.680 4 73741338 intron variant C/T snv 0.31
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
0.010 1.000 1 2011 2011
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
CUI: C0036690
Disease: Septicemia
Septicemia
0.010 1.000 1 2016 2016
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: C0018213
Disease: Graves Disease
Graves Disease
0.010 1.000 1 2009 2009
dbSNP: rs2227306
rs2227306
0.677 0.680 4 73741338 intron variant C/T snv 0.31
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.010 1.000 1 2016 2016
dbSNP: rs2227306
rs2227306
0.677 0.680 4 73741338 intron variant C/T snv 0.31
CUI: C0243026
Disease: Sepsis
Sepsis
0.010 1.000 1 2016 2016
dbSNP: rs2227306
rs2227306
0.677 0.680 4 73741338 intron variant C/T snv 0.31
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 1.000 1 2014 2014
dbSNP: rs2227306
rs2227306
0.677 0.680 4 73741338 intron variant C/T snv 0.31
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies
0.010 1.000 1 2009 2009
dbSNP: rs2227306
rs2227306
0.677 0.680 4 73741338 intron variant C/T snv 0.31
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
0.010 1.000 1 2016 2016
dbSNP: rs2227307
rs2227307
0.851 0.240 4 73740952 intron variant T/G snv 0.45
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.010 1.000 1 2016 2016
dbSNP: rs2227307
rs2227307
0.851 0.240 4 73740952 intron variant T/G snv 0.45
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
0.010 1.000 1 2011 2011
dbSNP: rs2227307
rs2227307
0.851 0.240 4 73740952 intron variant T/G snv 0.45
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.010 1.000 1 2014 2014
dbSNP: rs2227307
rs2227307
0.851 0.240 4 73740952 intron variant T/G snv 0.45
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 1.000 1 2014 2014
dbSNP: rs2227307
rs2227307
0.851 0.240 4 73740952 intron variant T/G snv 0.45
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
0.010 1.000 1 2014 2014
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: 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: rs2227543
rs2227543
1.000 0.120 4 73742193 3 prime UTR variant C/T snv 0.32
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.010 1.000 1 2011 2011
dbSNP: rs2227544
rs2227544
4 73742906 3 prime UTR variant G/A snv 4.4E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
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
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: C0036690
Disease: Septicemia
Septicemia
0.010 1.000 1 2016 2016
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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 1.000 1 2019 2019