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: rs121909218
rs121909218
PTEN
25 0.672 0.360 10 87933145 missense variant G/A snv 0.020 1.000 2 2002 2004
dbSNP: rs121917887
rs121917887
NME1 ; NME1-NME2
10 0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 0.020 1.000 2 2003 2007
dbSNP: rs1442033697
rs1442033697
SERPINE1
1 7 101135780 frameshift variant A/- del 0.010 1.000 1 2004 2004
dbSNP: rs1194624468
rs1194624468
PTK2
2 1.000 0.040 8 140700895 missense variant A/T snv 1.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2005 2005
dbSNP: rs80358829
rs80358829
BRCA2
6 0.827 0.120 13 32340327 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs104894403
rs104894403
GJB2
7 0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs771086543
rs771086543
CUEDC2 ; FBXL15
1 10 102422814 missense variant G/A snv 1.3E-04 1.0E-04 0.010 1.000 1 2006 2006
dbSNP: rs772903705
rs772903705
PSD
1 10 102411788 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.927 41 2007 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.927 41 2007 2018
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.030 1.000 3 2007 2017
dbSNP: rs1049074086
rs1049074086
CTSD
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.020 1.000 2 2007 2012
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.020 1.000 2 2007 2011
dbSNP: rs1022088103
rs1022088103
MMP2
1 16 55485759 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1231584616
rs1231584616
MMP2
1 16 55485367 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1451539938
rs1451539938
CD82
3 0.925 0.080 11 44618361 missense variant A/G snv 4.1E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2007 2007
dbSNP: rs587778720
rs587778720
TP53
31 0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs587782359
rs587782359
CDH1
3 1.000 0.080 16 68812244 missense variant C/G;T snv 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs80338948
rs80338948
GJB2
12 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 1.000 2 2008 2014
dbSNP: rs121913430
rs121913430
EGFR
3 1.000 0.080 7 55174740 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
dbSNP: rs1329032366
rs1329032366
PDLIM5
5 0.882 0.080 4 94654530 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008