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: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.020 0.500 2 2002 2006
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
dbSNP: rs121913315
rs121913315
STK11
5 0.882 0.160 19 1220488 missense variant G/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1546550
rs1546550
RASSF8
1 1.000 0.040 12 26069812 3 prime UTR variant A/C snv 0.76 0.010 < 0.001 1 2007 2007
dbSNP: rs3738671
rs3738671
TRIT1
1 1.000 0.040 1 39850216 missense variant A/T snv 0.11 0.10 0.010 1.000 1 2007 2007
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.030 1.000 3 2002 2008
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2008 2008
dbSNP: rs146795390
rs146795390
EGFR
8 0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs200298588
rs200298588
PDLIM5
2 1.000 0.040 4 94575722 missense variant G/A snv 0.010 1.000 1 2008 2008
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: rs10519198
rs10519198
IREB2
2 0.925 0.080 15 78450412 intron variant C/A;G snv 0.700 1.000 1 2009 2009
dbSNP: rs1062980
rs1062980
IREB2
8 0.827 0.080 15 78500185 3 prime UTR variant T/C snv 0.39 0.700 1.000 1 2009 2009