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: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 0.632 19 2002 2019
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 0.632 19 2002 2019
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.100 0.900 10 2000 2018
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.100 0.900 10 2000 2018
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.090 1.000 9 2005 2016
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.090 1.000 9 2005 2016
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.090 1.000 9 2005 2016
dbSNP: rs28936700
rs28936700
CYP1B1 ; CYP1B1-AS1
0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.060 0.833 6 2002 2019
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.050 0.800 5 2006 2019
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 0.800 5 2006 2019
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.050 1.000 5 2004 2015
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.050 1.000 5 2004 2015
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.050 1.000 5 2007 2018
dbSNP: rs1800440
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.050 1.000 5 2004 2015
dbSNP: rs1800440
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.050 1.000 5 2004 2015
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.040 1.000 4 2011 2017
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 1.000 4 2010 2015
dbSNP: rs1800440
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.040 1.000 4 2008 2015
dbSNP: rs1800440
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 0.750 4 2006 2015
dbSNP: rs1800440
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.040 1.000 4 2008 2015
dbSNP: rs1800440
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 0.750 4 2006 2015
dbSNP: rs10012
rs10012
CYP1B1 ; CYP1B1-AS1
0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.030 1.000 3 2010 2015
dbSNP: rs10012
rs10012
CYP1B1 ; CYP1B1-AS1
0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.030 1.000 3 2010 2015
dbSNP: rs10012
rs10012
CYP1B1 ; CYP1B1-AS1
0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.667 3 2009 2015
dbSNP: rs10012
rs10012
CYP1B1 ; CYP1B1-AS1
0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2009 2015