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: 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 0.667 3 1993 2019
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.020 0.500 2 1993 2019
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: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.100 0.900 20 1998 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.100 0.967 30 1999 2019
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.100 0.667 15 1999 2018
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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.850 20 2000 2018
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.875 16 2000 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.875 16 2000 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.826 23 2001 2019
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.100 0.818 22 2001 2015
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 1.000 14 2001 2014
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.100 0.900 10 2001 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.667 9 2001 2018
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