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: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.030 < 0.001 3 2007 2012
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.030 < 0.001 3 2007 2012
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.030 < 0.001 3 2007 2014
dbSNP: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
0.597 0.720 3 186853334 intron variant G/C;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.030 < 0.001 3 2006 2015
dbSNP: rs2511989
rs2511989
SERPING1
0.882 0.160 11 57610852 intron variant C/T snv 0.39
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.030 < 0.001 3 2010 2015
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.030 < 0.001 3 2007 2014
dbSNP: rs931127
rs931127
SIPA1 ; PCNX3
0.790 0.160 11 65637829 upstream gene variant G/A snv 0.49
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 < 0.001 3 2009 2014
dbSNP: rs931127
rs931127
SIPA1 ; PCNX3
0.790 0.160 11 65637829 upstream gene variant G/A snv 0.49
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 < 0.001 3 2009 2014
dbSNP: rs1004819
rs1004819
IL23R ; C1orf141
0.776 0.360 1 67204530 intron variant G/A snv 0.30
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.020 < 0.001 2 2013 2014
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.020 < 0.001 2 2012 2016
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.020 < 0.001 2 2012 2016
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0023418
Disease: leukemia
leukemia 		0.020 < 0.001 2 2012 2016
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 < 0.001 2 2005 2020
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.020 < 0.001 2 2005 2020
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.020 < 0.001 2 2008 2013
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.020 < 0.001 2 2008 2013
dbSNP: rs104895467
rs104895467
NOD2
0.851 0.120 16 50716899 missense variant A/G snv 1.2E-03 7.5E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.720 < 0.001 2 2014 2018
dbSNP: rs1051730
rs1051730
CHRNA3
0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26
CUI: C0003467
Disease: Anxiety
Anxiety 		0.020 < 0.001 2 2013 2014
dbSNP: rs1051730
rs1051730
CHRNA3
0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.020 < 0.001 2 2013 2014
dbSNP: rs1056503
rs1056503
XRCC4
0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 < 0.001 2 2012 2013
dbSNP: rs1056503
rs1056503
XRCC4
0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 < 0.001 2 2012 2013
dbSNP: rs1065489
rs1065489
CFH
0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		0.020 < 0.001 2 2014 2015
dbSNP: rs11196218
rs11196218
TCF7L2
0.925 0.160 10 113080735 intron variant G/A snv 0.25
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.020 < 0.001 2 2010 2012
dbSNP: rs1126478
rs1126478
LTF
0.763 0.240 3 46459723 missense variant T/C snv 0.41 0.51
CUI: C0011334
Disease: Dental caries
Dental caries 		0.020 < 0.001 2 2014 2018
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0023418
Disease: leukemia
leukemia 		0.020 < 0.001 2 2012 2016