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: rs1362888828
rs1362888828
0.925 0.120 21 31266532 synonymous variant C/T snv 4.0E-06 1.4E-05
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2000 2000
dbSNP: rs553863637
rs553863637
0.925 0.120 2 68382602 missense variant G/A;C snv 4.8E-05
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2000 2000
dbSNP: rs1801282
rs1801282
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2001 2001
dbSNP: rs1805192
rs1805192
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2001 2001
dbSNP: rs5030824
rs5030824
VHL
0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2001 2001
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: rs1416313401
rs1416313401
0.827 0.160 8 109578004 missense variant A/G snv 4.1E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2003 2003
dbSNP: rs5030809
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2003 2003
dbSNP: rs141683432
rs141683432
0.882 0.120 19 38287929 missense variant C/T snv 1.6E-03 1.9E-03
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2005 2005
dbSNP: rs2231142
rs2231142
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2005 2005
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: rs17576
rs17576
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2006 2006
dbSNP: rs25487
rs25487
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2006 2006
dbSNP: rs937475913
rs937475913
0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2006 2006
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: rs2273535
rs2273535
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: rs577715207
rs577715207
0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2007 2007
dbSNP: rs886039484
rs886039484
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: rs1799793
rs1799793
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2008 2008
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: rs12953717
rs12953717
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2009 2009
dbSNP: rs17037102
rs17037102
0.807 0.240 4 106924637 missense variant C/A;T snv 0.15
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2009 2009
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2009 2009
dbSNP: rs1802073
rs1802073
0.851 0.240 7 37907562 missense variant G/T snv 0.44 0.45
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2009 2009
dbSNP: rs1802074
rs1802074
0.925 0.120 7 37907501 missense variant C/T snv 0.20 0.24
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2009 2009