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: rs775439790
rs775439790
OGG1 ; CAMK1
4 0.851 0.080 3 9765858 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs3134614
rs3134614
MYCL ; MYCL-AS1
1 1.000 0.040 1 39897382 missense variant G/C snv 0.89 0.91 0.010 < 0.001 1 2004 2004
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.100 1.000 58 2005 2020
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.100 1.000 58 2005 2020
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.100 1.000 58 2005 2020
dbSNP: rs121913229
rs121913229
EGFR
2 0.925 0.080 7 55174785 missense variant G/C snv 4.0E-06 0.700 1.000 2 2005 2014
dbSNP: rs351855
rs351855
FGFR4
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.020 1.000 2 2005 2009
dbSNP: rs1057520012
rs1057520012
EPHA5
1 1.000 0.040 4 65404419 missense variant C/T snv 0.800 1.000 1 2005 2005
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 1.000 45 2006 2020
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
11 0.763 0.160 7 55181312 missense variant G/T snv 0.050 1.000 5 2006 2018
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
9 0.790 0.120 7 55181312 missense variant GC/TT mnv 0.050 1.000 5 2006 2018
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2006 2006
dbSNP: rs10842496
rs10842496
CASC1
1 1.000 0.040 12 25158555 missense variant G/A;T snv 2.8E-04; 0.33 0.010 1.000 1 2006 2006
dbSNP: rs121913418
rs121913418
EGFR
3 0.882 0.160 7 55174818 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1356083197
rs1356083197
WDR26 ; CNIH3
2 1.000 0.040 1 224434068 missense variant C/T snv 1.5E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs147149347
rs147149347
EGFR ; EGFR-AS1
2 0.925 0.080 7 55181314 missense variant G/A;C;T snv 2.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs17880039
rs17880039
RAD9A
1 1.000 0.040 11 67396157 missense variant A/G snv 4.8E-03 1.4E-03 0.010 1.000 1 2006 2006
dbSNP: rs1908946
rs1908946
LRMP
1 1.000 0.040 12 25090181 missense variant G/A;C snv 0.54 0.010 1.000 1 2006 2006
dbSNP: rs2073498
rs2073498
RASSF1
12 0.763 0.280 3 50332115 missense variant C/A snv 9.6E-02 8.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs760112920
rs760112920
KIT
2 0.925 0.120 4 54731930 missense variant G/T snv 4.0E-06 3.5E-05 0.010 1.000 1 2006 2006
dbSNP: rs775057330
rs775057330
CASC1
5 0.851 0.080 12 25149651 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs7969931
rs7969931
LRMP
5 0.851 0.080 12 25089661 missense variant C/A;G snv 1.6E-05; 0.75 0.010 1.000 1 2006 2006
dbSNP: rs1048155
rs1048155
SSPN ; BHLHE41
1 1.000 0.040 12 26120155 3 prime UTR variant C/G snv 0.48 0.010 < 0.001 1 2007 2007
dbSNP: rs1057520017
rs1057520017
STK11
1 1.000 0.040 19 1220630 missense variant C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs11048413
rs11048413
SSPN ; BHLHE41
1 1.000 0.040 12 26122622 missense variant G/A snv 0.53 0.38 0.010 < 0.001 1 2007 2007