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: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.100 0.583 12 2004 2016
dbSNP: rs2294008
rs2294008
PSCA ; JRK
0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.100 1.000 11 2009 2019
dbSNP: rs1217691063
rs1217691063
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 0.889 9 2005 2013
dbSNP: rs2228000
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 1.000 9 2006 2016
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.090 1.000 9 2005 2016
dbSNP: rs1042522
rs1042522
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.080 1.000 8 2010 2015
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.080 1.000 8 2007 2014
dbSNP: rs1799782
rs1799782
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.080 0.750 8 2008 2016
dbSNP: rs1799793
rs1799793
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.080 1.000 8 2007 2014
dbSNP: rs25489
rs25489
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.080 0.875 8 2007 2017
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.080 1.000 8 2005 2013
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.070 0.857 7 2007 2014
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.070 1.000 7 2010 2015
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.070 1.000 7 2001 2013
dbSNP: rs861539
rs861539
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.070 1.000 7 2009 2014
dbSNP: rs878854066
rs878854066
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.070 1.000 7 2010 2015
dbSNP: rs1800566
rs1800566
0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.060 1.000 6 2011 2017
dbSNP: rs798766
rs798766
0.851 0.120 4 1732512 intron variant T/C snv 0.76
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.060 0.833 6 2011 2017
dbSNP: rs9642880
rs9642880
0.776 0.240 8 127705823 intron variant G/A;T snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.060 1.000 6 2009 2015
dbSNP: rs2910164
rs2910164
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.050 1.000 5 2012 2018
dbSNP: rs1042028
rs1042028
0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.040 1.000 4 2003 2017
dbSNP: rs11614913
rs11614913
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.040 0.750 4 2011 2017
dbSNP: rs2736098
rs2736098
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.040 1.000 4 2011 2018
dbSNP: rs710521
rs710521
0.851 0.200 3 189928144 intergenic variant T/C snv 0.24
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.040 1.000 4 2009 2018
dbSNP: rs833052
rs833052
0.827 0.160 6 43755598 intergenic variant A/C snv 0.88
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.040 1.000 4 2007 2019