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: rs35866072
rs35866072
MMP8
0.716 0.360 11 102713373 missense variant T/G snv 6.0E-02 9.8E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs34009635
rs34009635
MMP8
0.716 0.360 11 102713445 missense variant A/G snv 2.5E-03 6.2E-04
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
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: rs2276109
rs2276109
MMP12
0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2013 2013
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: rs3740393
rs3740393
AS3MT ; BORCS7-ASMT
0.776 0.280 10 102876898 intron variant G/C;T snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs11191438
rs11191438
AS3MT ; BORCS7-ASMT
0.882 0.120 10 102878107 intron variant G/A;C snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs11191439
rs11191439
AS3MT ; BORCS7-ASMT
0.851 0.120 10 102878966 missense variant T/A;C snv 9.2E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs11191454
rs11191454
AS3MT ; BORCS7-ASMT ; LOC107984265
0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
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: 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: rs861539
rs861539
KLC1 ; XRCC3
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: rs861531
rs861531
KLC1 ; XRCC3 ; LOC112268131
0.882 0.120 14 103706470 3 prime UTR variant C/A snv 0.32
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs861530
rs861530
KLC1 ; XRCC3 ; LOC112268131
0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs156697
rs156697
GSTO2
0.672 0.560 10 104279427 missense variant A/G;T snv 0.35
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs377062126
rs377062126
TXNRD1
0.882 0.120 12 104319543 missense variant G/A snv 2.1E-05 3.5E-05
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2017 2017
dbSNP: rs1322643228
rs1322643228
TXNRD1
0.807 0.280 12 104321110 missense variant C/T snv 7.1E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2017 2017
dbSNP: rs2498801
rs2498801
AKT1 ; LOC102723342
0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs1130233
rs1130233
AKT1
0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2010 2010
dbSNP: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs9034
rs9034
NAMPT
0.827 0.200 7 106249610 3 prime UTR variant A/G;T snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs61330082
rs61330082
NAMPT
0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2014 2014