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: rs9282861
rs9282861
SULT1A1
0.658 0.440 16 28606193 missense variant C/T snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.040 1.000 4 2003 2017
dbSNP: rs1130409
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.030 0.667 3 2007 2013
dbSNP: rs11892031
rs11892031
UGT1A10 ; UGT1A8
0.882 0.120 2 233656637 intron variant A/C;T snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.030 0.667 3 2010 2015
dbSNP: rs1258159645
rs1258159645
NQO1
0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.030 1.000 3 2011 2017
dbSNP: rs1799864
rs1799864
CCR2
0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.030 1.000 3 2010 2012
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.030 1.000 3 2011 2015
dbSNP: rs25648
rs25648
VEGFA
0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.030 1.000 3 2010 2019
dbSNP: rs699947
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.030 0.667 3 2017 2019
dbSNP: rs762551
rs762551
CYP1A2
0.701 0.400 15 74749576 intron variant C/A snv 0.67
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.030 1.000 3 2015 2016
dbSNP: rs1014971
rs1014971 		0.882 0.120 22 38936618 regulatory region variant C/T snv 0.55
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 1.000 2 2010 2016
dbSNP: rs1043210477
rs1043210477
GPX1
0.701 0.520 3 49358250 missense variant G/A snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 0.500 2 2004 2014
dbSNP: rs1046778
rs1046778
AS3MT ; BORCS7-ASMT ; LOC107984265
0.851 0.160 10 102901727 3 prime UTR variant T/C snv 0.30
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 1.000 2 2018 2018
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 1.000 2 2011 2013
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 0.500 2 2013 2014
dbSNP: rs10748835
rs10748835
AS3MT ; BORCS7-ASMT ; LOC107984265
0.827 0.160 10 102900499 non coding transcript exon variant G/A snv 0.41
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 1.000 2 2018 2018
dbSNP: rs10936599
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 1.000 2 2014 2019
dbSNP: rs121913483
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 1.000 2 2007 2019
dbSNP: rs1495741
rs1495741 		0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 1.000 2 2014 2016
dbSNP: rs153109
rs153109
IL27
0.623 0.600 16 28507775 intron variant T/C snv 0.43
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 1.000 2 2015 2015
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 0.500 2 2011 2014
dbSNP: rs17674580
rs17674580
SLC14A1 ; LOC105372093
0.882 0.120 18 45729946 5 prime UTR variant C/A;T snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 1.000 2 2014 2014
dbSNP: rs17855750
rs17855750
IL27
0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 1.000 2 2015 2015
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 1.000 2 2013 2014
dbSNP: rs1800371
rs1800371
TP53
0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 0.500 2 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 0.500 2 2013 2013