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: rs1241312324
rs1241312324
NFKB1
0.925 0.200 4 102567083 missense variant T/C snv 4.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2008 2008
dbSNP: rs1241312324
rs1241312324
NFKB1
0.925 0.200 4 102567083 missense variant T/C snv 4.0E-06
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.010 1.000 1 2008 2008
dbSNP: rs4648022
rs4648022
NFKB1
1.000 0.120 4 102575280 intron variant C/A;T snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.010 1.000 1 2008 2008
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs4648110
rs4648110
NFKB1 ; LOC105377347
0.925 0.080 4 102612664 intron variant T/A snv 0.22
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs4648110
rs4648110
NFKB1 ; LOC105377347
0.925 0.080 4 102612664 intron variant T/A snv 0.22
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2010 2010
dbSNP: rs1609798
rs1609798
NFKB1 ; LOC105377347
1.000 0.040 4 102616285 intron variant C/T snv 0.26
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2011 2011
dbSNP: rs230521
rs230521
NFKB1
0.851 0.160 4 102542171 intron variant C/G snv 0.59
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2011 2011
dbSNP: rs4648004
rs4648004
NFKB1
1.000 0.040 4 102539950 intron variant A/G snv 0.26
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2011 2011
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2012 2012
dbSNP: rs3774959
rs3774959
NFKB1
0.925 0.080 4 102589957 intron variant G/A snv 0.34
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs3774964
rs3774964
NFKB1
1.000 0.080 4 102598330 intron variant A/G snv 0.39
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs4648068
rs4648068
NFKB1
0.790 0.240 4 102597148 intron variant A/G snv 0.31
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 < 0.001 1 2012 2012
dbSNP: rs4648068
rs4648068
NFKB1
0.790 0.240 4 102597148 intron variant A/G snv 0.31
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2012 2012
dbSNP: rs4648127
rs4648127
NFKB1 ; LOC105377347
0.882 0.080 4 102614748 intron variant C/T snv 4.3E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2012 2012
dbSNP: rs4648127
rs4648127
NFKB1 ; LOC105377347
0.882 0.080 4 102614748 intron variant C/T snv 4.3E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2012 2012
dbSNP: rs4648127
rs4648127
NFKB1 ; LOC105377347
0.882 0.080 4 102614748 intron variant C/T snv 4.3E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2012 2012
dbSNP: rs72696119
rs72696119
NFKB1 ; LOC105377621
0.925 0.120 4 102501347 5 prime UTR variant C/G snv 0.43
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2012 2012
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.010 1.000 1 2013 2013
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.010 1.000 1 2013 2013
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2013 2013
dbSNP: rs28720239
rs28720239
NFKB1 ; LOC105377621
1.000 0.080 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs3774932
rs3774932
NFKB1 ; LOC105377621
1.000 0.080 4 102503036 intron variant A/G;T snv
CUI: C2986665
Disease: Early-Stage Breast Carcinoma
Early-Stage Breast Carcinoma 		0.010 1.000 1 2013 2013