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: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.080 0.875 8 2007 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.080 1.000 8 2005 2013
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.080 1.000 8 2009 2014
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.070 0.857 7 2007 2014
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.070 1.000 7 2010 2015
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.070 1.000 7 2010 2015
dbSNP: rs1800566
rs1800566
NQO1
0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.060 1.000 6 2011 2017
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.050 1.000 5 2012 2018
dbSNP: rs1042028
rs1042028
SULT1A1
0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.040 1.000 4 2003 2017
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.040 0.750 4 2011 2017
dbSNP: rs2736098
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.040 1.000 4 2011 2018
dbSNP: rs833052
rs833052 		0.827 0.160 6 43755598 intergenic variant A/C snv 0.88
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.040 1.000 4 2007 2019
dbSNP: rs9282861
rs9282861
SULT1A1
0.658 0.440 16 28606193 missense variant C/T snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.030 0.667 3 2007 2013
dbSNP: rs1258159645
rs1258159645
NQO1
0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.030 1.000 3 2011 2015
dbSNP: rs1805377
rs1805377
XRCC4
0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.030 1.000 3 2007 2013
dbSNP: rs25648
rs25648
VEGFA
0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.030 1.000 3 2010 2019
dbSNP: rs6869366
rs6869366
XRCC4 ; TMEM167A
0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.030 1.000 3 2009 2013
dbSNP: rs699947
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.030 1.000 3 2015 2016
dbSNP: rs1043210477
rs1043210477
GPX1
0.701 0.520 3 49358250 missense variant G/A snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.020 1.000 2 2011 2013