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: rs2736098
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 0.500 2 2016 2019
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: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 1.000 2 2015 2017
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 1.000 2 2014 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 1.000 2 2010 2012
dbSNP: rs448012
rs448012
FLT4
0.925 0.120 5 180619344 missense variant G/C snv 0.63 0.61
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 1.000 2 2014 2017
dbSNP: rs5751129
rs5751129
XRCC6 ; DESI1
0.752 0.320 22 41619761 intron variant C/T snv 0.69
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 1.000 2 2012 2015
dbSNP: rs758272654
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 1.000 2 2006 2012
dbSNP: rs1010980331
rs1010980331
MPRIP ; FLCN
0.925 0.120 17 17215072 missense variant T/C snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs10434
rs10434
VEGFA
0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1048798213
rs1048798213
APC
1.000 0.120 5 112837872 missense variant C/G snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 < 0.001 1 2015 2015
dbSNP: rs1049334
rs1049334
CAV1
0.851 0.280 7 116560326 3 prime UTR variant G/A;T snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs1055259
rs1055259
GSTM3 ; GSTM5
1.000 0.120 1 109734239 3 prime UTR variant T/C snv 0.12
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs1057520001
rs1057520001
TP53
0.677 0.360 17 7674886 missense variant A/C;G snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 < 0.001 1 2007 2007
dbSNP: rs1060502375
rs1060502375
FLCN
0.882 0.120 17 17228023 missense variant G/T snv 4.0E-06
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) 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: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs10771279
rs10771279
ITPR2
0.925 0.120 12 26377610 intron variant T/A;C snv 0.40
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 < 0.001 1 2014 2014
dbSNP: rs10936602
rs10936602
LRRIQ4
0.882 0.240 3 169818849 upstream gene variant T/C snv 0.26
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs11203289
rs11203289
SDHB
0.882 0.240 1 17054012 missense variant G/A;C snv 4.1E-06; 3.1E-03
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2019 2019
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: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs1131691061
rs1131691061
SDHB
0.827 0.280 1 17054017 start lost C/T snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1137100
rs1137100
LEPR
0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1143623
rs1143623
IL1B
0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2017 2017