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: rs1048943
rs1048943
CYP1A1
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: rs1057520001
rs1057520001
TP53
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: rs10771279
rs10771279
ITPR2
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: rs1154454
rs1154454
ADH7
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
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 < 0.001 1 2019 2019
dbSNP: rs2273535
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 < 0.001 1 2007 2007
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 < 0.001 1 2019 2019
dbSNP: rs333951
rs333951
CSF1
0.925 0.120 1 109909068 upstream gene variant T/C snv 0.74
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 < 0.001 1 2018 2018
dbSNP: rs4988235
rs4988235
MCM6
0.752 0.400 2 135851076 intron variant G/A;C snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 < 0.001 1 2010 2010
dbSNP: rs5030805
rs5030805
VHL
0.790 0.280 3 10142086 missense variant G/A;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 < 0.001 1 2008 2008
dbSNP: rs886039484
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 < 0.001 1 2007 2007
dbSNP: rs1042522
rs1042522
TP53
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: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.020 0.500 2 2007 2011
dbSNP: rs11556218
rs11556218
IL16
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: rs1353702185
rs1353702185
MDM2
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
VEGFA
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
dbSNP: rs2736098
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.020 0.500 2 2016 2019
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.020 0.500 2 2007 2011
dbSNP: rs1801133
rs1801133
MTHFR
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: rs4778889
rs4778889
IL16
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: rs699947
rs699947
VEGFA
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: rs149617956
rs149617956
MITF
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: rs718314
rs718314
LOC105369705
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
TERT
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
HIF1A ; HIF1A-AS3
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