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: rs121913316
rs121913316
STK11
2 1.000 0.080 19 1220489 missense variant A/T snv 0.700 0
dbSNP: rs142771326
rs142771326
PPP2R1B
1 1.000 0.080 11 111766340 missense variant C/G;T snv 2.0E-04 5.2E-04 0.700 0
dbSNP: rs1446876735
rs1446876735
VHL
1 1.000 0.080 3 10142164 missense variant G/A snv 0.700 0
dbSNP: rs1805076
rs1805076
PPP2R1B
7 0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03 0.700 0
dbSNP: rs5030807
rs5030807
VHL
5 0.851 0.320 3 10142113 missense variant T/A;C snv 0.700 0
dbSNP: rs973682124
rs973682124
PPP2R1B
1 1.000 0.080 11 111743419 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1019340046
rs1019340046
TP53
5 0.882 0.080 17 7674225 missense variant C/T snv 0.010 < 0.001 1 1993 1993
dbSNP: rs587781991
rs587781991
TP53
17 0.724 0.240 17 7675208 missense variant C/A;T snv 0.010 1.000 1 1996 1996
dbSNP: rs1174612410
rs1174612410
SLC12A9
3 0.882 0.080 7 100860016 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs774352237
rs774352237
TCHP
4 0.882 0.080 12 109908873 missense variant G/A snv 3.2E-05 2.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs369576054
rs369576054
MAPK10 ; ARHGAP24
6 0.807 0.120 4 85994925 missense variant C/T snv 2.8E-05 4.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs538874513
rs538874513
TP73
6 0.807 0.120 1 3730017 missense variant C/G;T snv 8.2E-06; 8.2E-06 0.010 1.000 1 2001 2001
dbSNP: rs121965039
rs121965039
OAT
6 0.851 0.160 10 124408601 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs146755810
rs146755810
OAT
4 0.882 0.080 10 124412125 missense variant C/G;T snv 2.4E-05; 3.2E-05 0.010 1.000 1 2003 2003
dbSNP: rs63750447
rs63750447
MLH1
17 0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 0.010 1.000 1 2003 2003
dbSNP: rs1060503291
rs1060503291
APC
3 0.882 0.080 5 112835135 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs140118273
rs140118273
MUTYH
3 0.882 0.080 1 45329412 missense variant G/A;C snv 8.4E-03 0.010 1.000 1 2004 2004
dbSNP: rs3219484
rs3219484
MUTYH
7 0.807 0.160 1 45334484 missense variant C/A;T snv 4.8E-02 4.8E-02 0.010 1.000 1 2004 2004
dbSNP: rs764643047
rs764643047
OGG1
5 0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06 0.010 1.000 1 2004 2004
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 2004 2004
dbSNP: rs776197565
rs776197565
APC
5 0.827 0.120 5 112819214 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2005 2005
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 < 0.001 1 2005 2005
dbSNP: rs2071203
rs2071203
SEMA3B
6 0.827 0.120 3 50274469 missense variant C/T snv 0.12 9.9E-02 0.010 1.000 1 2005 2005
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 1.000 1 2005 2005