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: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.700 0
dbSNP: rs370004591
rs370004591
TTN ; TTN-AS1 ; LOC101927055
1 1.000 0.080 2 178776789 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs374711533
rs374711533
DCLK3
1 1.000 0.080 3 36718103 missense variant G/A snv 9.2E-05 1.6E-04 0.700 0
dbSNP: rs770167074
rs770167074
BMP2K
1 1.000 0.080 4 78826060 missense variant G/A;C snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 1999 1999
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2006 2006
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2007 2007
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1057520039
rs1057520039
STK11
4 0.882 0.200 19 1207169 stop gained C/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2007 2007
dbSNP: rs121913376
rs121913376
BRAF
2 0.925 0.080 7 140781597 missense variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1801270
rs1801270
CDKN1A
22 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs730881972
rs730881972
STK11
2 1.000 0.080 19 1220395 missense variant G/C;T snv 0.700 1.000 1 2007 2007
dbSNP: rs764449808
rs764449808
STK11
1 1.000 0.080 19 1218494 missense variant A/G snv 1.2E-05 3.5E-05 0.700 1.000 1 2007 2007
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 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 1.000 1 2007 2007
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs6183
rs6183
GHR
8 0.827 0.080 5 42718990 missense variant C/A snv 2.3E-03 7.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs150036236
rs150036236
EGFR
3 0.925 0.080 7 55191741 missense variant G/A snv 4.8E-05 3.5E-05 0.700 1.000 1 2010 2010
dbSNP: rs34192549
rs34192549
EPHA2
1 1.000 0.080 1 16137994 missense variant C/G;T snv 2.5E-02 0.700 1.000 1 2010 2010
dbSNP: rs1057519789
rs1057519789
DDR2
1 1.000 0.080 1 162775707 missense variant A/G;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs1057519790
rs1057519790
DDR2
1 1.000 0.080 1 162778617 missense variant G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs144594252
rs144594252
DDR2
3 0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05 0.700 1.000 1 2011 2011
dbSNP: rs376303676
rs376303676
DDR2
1 1.000 0.080 1 162759881 missense variant G/A;T snv 8.0E-06 0.700 1.000 1 2011 2011