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: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs34048824
rs34048824
DNMT3A
1.000 0.120 2 25312674 intron variant T/C snv 0.42
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs34917480
rs34917480
RTN4 ; EML6
0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs3783521
rs3783521
IL1A
0.807 0.200 2 112786000 upstream gene variant G/A 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: rs3783546
rs3783546
IL1A
0.882 0.160 2 112777253 intron variant G/C snv 0.70
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs3783550
rs3783550
IL1A
0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs4988235
rs4988235
MCM6
0.752 0.400 2 135851076 intron variant G/A;C snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 < 0.001 1 2010 2010
dbSNP: rs553863637
rs553863637
PLEK
0.925 0.120 2 68382602 missense variant G/A;C snv 4.8E-05
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2000 2000
dbSNP: rs6721961
rs6721961
NFE2L2
0.672 0.520 2 177265309 intron variant T/C;G snv 0.89
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs71428439
rs71428439
GPC1 ; MIR149 ; LOC100130449
0.827 0.200 2 240456083 non coding transcript exon variant A/G snv 0.11 0.13
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs9679290
rs9679290
EPAS1
0.925 0.120 2 46330505 intron variant G/C snv 0.41
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.050 0.800 5 2011 2019
dbSNP: rs104893824
rs104893824
VHL
0.776 0.320 3 10142181 missense variant T/A;C snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 1.000 2 1999 2003
dbSNP: rs104893829
rs104893829
VHL
0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 1.000 2 2013 2017
dbSNP: rs10936599
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 1.000 2 2017 2017
dbSNP: rs182052
rs182052
ADIPOQ
0.701 0.440 3 186842993 intron variant G/A snv 0.38
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 1.000 2 2015 2018
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: 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: 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: rs11708581
rs11708581
DNAH1
0.827 0.160 3 52394972 synonymous variant C/A snv 8.3E-02 7.7E-02
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs12163565
rs12163565
DNAH1
0.827 0.160 3 52396510 missense variant G/A snv 0.19 0.16
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1259293
rs1259293
FSTL1
0.925 0.120 3 120421014 intron variant T/C snv 0.59
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs1449964136
rs1449964136
MITF
0.925 0.120 3 69936725 start lost G/A snv 8.0E-06 7.0E-06
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1642742
rs1642742
VHL
1.000 0.120 3 10150259 3 prime UTR variant G/A snv 0.57
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2018 2018