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: rs149617956
rs149617956
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.050 0.800 5 2011 2019
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.040 0.750 4 2017 2018
dbSNP: rs718314
rs718314
0.882 0.120 12 26300350 intron variant A/G snv 0.27
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.840 0.833 4 2012 2019
dbSNP: rs10069690
rs10069690
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 1.000 3 2016 2019
dbSNP: rs11549465
rs11549465
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 1.000 3 2008 2018
dbSNP: rs11549467
rs11549467
0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 1.000 3 2008 2018
dbSNP: rs11614913
rs11614913
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 1.000 3 2014 2018
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 1.000 3 2007 2017
dbSNP: rs132770
rs132770
0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 1.000 3 2012 2015
dbSNP: rs1801133
rs1801133
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 0.667 3 2008 2019
dbSNP: rs2267437
rs2267437
0.724 0.320 22 41620695 intron variant C/A;G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 1.000 3 2012 2015
dbSNP: rs3025039
rs3025039
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 1.000 3 2013 2017
dbSNP: rs3746444
rs3746444
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 1.000 3 2014 2018
dbSNP: rs4778889
rs4778889
0.683 0.480 15 81296654 intron variant T/C snv 0.24
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 0.667 3 2015 2019
dbSNP: rs7105934
rs7105934
0.827 0.120 11 69424973 upstream gene variant G/A;C snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.830 1.000 3 2011 2019
dbSNP: rs7579899
rs7579899
0.925 0.120 2 46310465 intron variant A/G snv 0.52
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.830 1.000 3 2011 2019
dbSNP: rs1042522
rs1042522
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.020 0.500 2 2007 2011
dbSNP: rs104893824
rs104893824
VHL
0.776 0.320 3 10142181 missense variant T/A;C snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.020 1.000 2 1999 2003
dbSNP: rs1049380
rs1049380
0.827 0.120 12 26336611 3 prime UTR variant G/T snv 0.69
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.820 1.000 2 2012 2019
dbSNP: rs10936599
rs10936599
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.020 1.000 2 2017 2017
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.020 1.000 2 2015 2015
dbSNP: rs11556218
rs11556218
0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.020 0.500 2 2016 2019
dbSNP: rs11762213
rs11762213
MET
0.925 0.120 7 116699228 synonymous variant G/A snv 3.3E-02 3.3E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.020 1.000 2 2013 2014
dbSNP: rs1353702185
rs1353702185
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.020 0.500 2 2007 2011
dbSNP: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.020 0.500 2 2017 2017