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: 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: 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: 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: 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
dbSNP: rs374733251
rs374733251
MET
5 0.882 0.080 7 116740993 missense variant A/G snv 6.0E-05 7.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs377444977
rs377444977
EGFR
5 0.882 0.080 7 55143443 missense variant G/A snv 5.2E-05 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs771799019
rs771799019
GRAP2
1 22 39969528 missense variant G/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs774390402
rs774390402
BCAR1
1 16 75235116 missense variant A/C snv 1.2E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs78768932
rs78768932
PXN
6 0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03 0.010 1.000 1 2008 2008
dbSNP: rs1056123575
rs1056123575
ADAMTS1
4 0.925 0.080 21 26844557 missense variant G/A snv 4.2E-06 7.0E-06 0.010 1.000 1 2009 2009