Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs577715207
rs577715207
TP63
8 0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs886039484
rs886039484
TP53
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2008 2008
dbSNP: rs5030805
rs5030805
VHL
7 0.790 0.280 3 10142086 missense variant G/A;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs12953717
rs12953717
SMAD7
18 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs17037102
rs17037102
DKK2
6 0.807 0.240 4 106924637 missense variant C/A;T snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2009 2009
dbSNP: rs1802073
rs1802073
SFRP4 ; EPDR1
4 0.851 0.240 7 37907562 missense variant G/T snv 0.44 0.45 0.010 1.000 1 2009 2009
dbSNP: rs1802074
rs1802074
SFRP4 ; EPDR1
2 0.925 0.120 7 37907501 missense variant C/T snv 0.20 0.24 0.010 1.000 1 2009 2009
dbSNP: rs2291599
rs2291599
DKK3
2 0.925 0.120 11 11968352 intron variant T/C snv 0.83 0.85 0.010 1.000 1 2009 2009
dbSNP: rs2504106
rs2504106
DAAM2
2 0.925 0.120 6 39854343 intron variant A/G snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs3118523
rs3118523 		2 0.925 0.120 9 134443675 downstream gene variant G/A snv 0.75 0.010 1.000 1 2009 2009
dbSNP: rs3206824
rs3206824
DKK3
6 0.827 0.160 11 11964514 missense variant T/C snv 0.78 0.78 0.010 1.000 1 2009 2009
dbSNP: rs6937133
rs6937133
DAAM2
2 0.925 0.120 6 39832238 intron variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs7396187
rs7396187
DKK3
2 0.925 0.120 11 11967604 intron variant C/G snv 0.84 0.010 1.000 1 2009 2009
dbSNP: rs748964
rs748964 		2 0.925 0.120 9 134442243 downstream gene variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2010 2010
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2010 2010
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs4988235
rs4988235
MCM6
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 < 0.001 1 2010 2010
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 0.500 2 2007 2011
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2007 2011
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 0.500 2 2007 2011
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2007 2011
dbSNP: rs10211665
rs10211665
EPAS1
1 1.000 0.120 2 46298957 intron variant T/C snv 0.58 0.700 1.000 1 2011 2011