IRF1, interferon regulatory factor 1, 3659

N. diseases: 257; N. variants: 7
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: rs2070729
rs2070729
5 132484229 non coding transcript exon variant C/A;T snv 0.52
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.800 1.000 1 2011 2011
dbSNP: rs121912469
rs121912469
1.000 0.080 5 132489457 missense variant T/A snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 3 1998 2014
dbSNP: rs121912470
rs121912470
0.925 0.120 5 132489448 missense variant A/G snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 2 1998 1999
dbSNP: rs6873426
rs6873426
5 132482939 3 prime UTR variant G/T snv 0.38
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE
0.700 1.000 1 2011 2011
dbSNP: rs6873426
rs6873426
5 132482939 3 prime UTR variant G/T snv 0.38
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity
0.700 1.000 1 2011 2011
dbSNP: rs6873426
rs6873426
5 132482939 3 prime UTR variant G/T snv 0.38
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay
0.700 1.000 1 2011 2011
dbSNP: rs121912469
rs121912469
1.000 0.080 5 132489457 missense variant T/A snv
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121912470
rs121912470
0.925 0.120 5 132489448 missense variant A/G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs11242115
rs11242115
1.000 0.040 5 132490721 5 prime UTR variant G/C snv 0.26
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2706384
rs2706384
1.000 0.040 5 132491188 intron variant G/T snv 0.60
CUI: C0024530
Disease: Malaria
Malaria
Infections 0.010 1.000 1 2011 2011
dbSNP: rs56288038
rs56288038
0.925 0.080 5 132483914 3 prime UTR variant G/C snv 2.0E-05 7.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs56288038
rs56288038
0.925 0.080 5 132483914 3 prime UTR variant G/C snv 2.0E-05 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs56288038
rs56288038
0.925 0.080 5 132483914 3 prime UTR variant G/C snv 2.0E-05 7.0E-06
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016