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: rs11894252
rs11894252
0.925 0.120 2 46306237 intron variant T/A;C;G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.810 1.000 1 2011 2019
dbSNP: rs4765623
rs4765623
0.925 0.120 12 124836304 intron variant C/T snv 0.38
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.810 1.000 1 2011 2017
dbSNP: rs10936602
rs10936602
0.882 0.240 3 169818849 upstream gene variant T/C snv 0.26
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.710 1.000 1 2017 2017
dbSNP: rs11813268
rs11813268
0.925 0.120 10 103922538 upstream gene variant C/T snv 0.31
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.710 1.000 1 2017 2017
dbSNP: rs2241261
rs2241261
0.925 0.120 8 23019226 3 prime UTR variant C/G;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.710 1.000 1 2017 2017
dbSNP: rs4381241
rs4381241
0.925 0.120 1 50441766 intron variant T/C snv 0.51
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.710 1.000 1 2017 2017
dbSNP: rs4903064
rs4903064
0.925 0.120 14 72812712 intron variant T/C snv 0.23
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.710 1.000 1 2017 2019
dbSNP: rs67311347
rs67311347
0.925 0.120 3 40491752 intron variant G/A snv 0.36
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.710 1.000 1 2017 2017
dbSNP: rs74911261
rs74911261
0.882 0.160 11 108486410 missense variant G/A snv 1.6E-02 1.6E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.710 1.000 1 2017 2017
dbSNP: rs1010980331
rs1010980331
0.925 0.120 17 17215072 missense variant T/C snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs10434
rs10434
0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs104893829
rs104893829
VHL
0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 < 0.001 1 2015 2015
dbSNP: rs1052133
rs1052133
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2011 2011
dbSNP: rs1057520001
rs1057520001
0.677 0.360 17 7674886 missense variant A/C;G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 < 0.001 1 2007 2007
dbSNP: rs1060502375
rs1060502375
0.882 0.120 17 17228023 missense variant G/T snv 4.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs1064794272
rs1064794272
VHL
0.807 0.240 3 10146566 missense variant C/A snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2006 2006
dbSNP: rs10771279
rs10771279
0.925 0.120 12 26377610 intron variant T/A;C snv 0.40
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 < 0.001 1 2014 2014
dbSNP: rs11203289
rs11203289
0.882 0.240 1 17054012 missense variant G/A;C snv 4.1E-06; 3.1E-03
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs1130409
rs1130409
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2011 2011
dbSNP: rs1131690838
rs1131690838
0.925 0.120 17 17228135 frameshift variant C/- del
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs1131691061
rs1131691061
0.827 0.280 1 17054017 start lost C/T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs1137101
rs1137101
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2018 2018
dbSNP: rs1143623
rs1143623
0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs1154454
rs1154454
0.925 0.120 4 99417185 intron variant A/G snv 0.22
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 < 0.001 1 2018 2018