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: rs1215486792
rs1215486792
MOK
2 0.925 0.080 14 102229572 missense variant C/G snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1230416942
rs1230416942
TTI2 ; MAK16
3 0.925 0.080 8 33498547 missense variant G/C snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs12373
rs12373
ZG16B
2 0.925 0.080 16 2832196 3 prime UTR variant G/T snv 0.66 0.63 0.010 1.000 1 2015 2015
dbSNP: rs12477554
rs12477554
TACR1 ; LOC105374811 ; LOC105374812
2 0.925 0.080 2 75174939 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1282801317
rs1282801317
EGFR
2 0.925 0.080 7 55143316 missense variant G/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1289280947
rs1289280947
CDKN2A
5 0.851 0.080 9 21974571 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs13072632
rs13072632
CTNNB1
2 0.925 0.080 3 41220953 5 prime UTR variant T/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs1330586270
rs1330586270
EPHB2
2 0.925 0.080 1 22882367 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1367801477
rs1367801477
ACD ; CARMIL2
2 0.925 0.080 16 67657673 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1376199019
rs1376199019
CYP1A1
2 0.925 0.080 15 74720557 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs138551214
rs138551214
EPHB2
4 0.925 0.080 1 22909025 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs141178472
rs141178472
PIK3CA
2 0.925 0.080 3 179234393 3 prime UTR variant T/C snv 3.0E-03 3.3E-03 0.010 1.000 1 2015 2015
dbSNP: rs1419316960
rs1419316960
DNMT1
2 0.925 0.080 19 10166651 missense variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1466012753
rs1466012753
MLH1
2 0.925 0.080 3 37014525 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs146639652
rs146639652
POLE
5 0.827 0.080 12 132675752 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs147079820
rs147079820
KIF2C
2 0.925 0.080 1 44758123 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs149418249
rs149418249
ACD ; CARMIL2
2 0.925 0.080 16 67657798 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs150742660
rs150742660
SCO2 ; NCAPH2
3 0.925 0.080 22 50523735 missense variant A/G snv 8.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs1535989
rs1535989 		4 0.925 0.080 13 105370372 intergenic variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1625649
rs1625649
MGMT
3 0.882 0.080 10 129466667 upstream gene variant A/C snv 0.61 0.010 1.000 1 2010 2010
dbSNP: rs17026425
rs17026425
IQCM
4 0.882 0.080 4 149751362 intron variant G/A snv 4.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1725459
rs1725459
SIPA1L3
2 0.925 0.080 19 38049092 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs17724534
rs17724534
LOC107984264
2 0.925 0.080 10 102845764 non coding transcript exon variant C/T snv 9.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs17735387
rs17735387
MIR17HG
2 0.925 0.080 13 91353800 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1902584
rs1902584
CYP19A1 ; LOC112268146
2 0.925 0.080 15 51319457 intron variant A/T snv 8.2E-02 0.010 1.000 1 2011 2011