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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.615 13 2004 2016
dbSNP: rs1043210477
rs1043210477
GPX1
19 0.701 0.520 3 49358250 missense variant G/A snv 0.020 0.500 2 2004 2014
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2004 2009
dbSNP: rs953038635
rs953038635
SOD2
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.020 0.500 2 2004 2014
dbSNP: rs121909218
rs121909218
PTEN
25 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs2074647
rs2074647
RGS6
3 0.882 0.120 14 72562470 missense variant G/A snv 9.0E-02 0.10 0.010 1.000 1 2004 2004
dbSNP: rs786204929
rs786204929
PTEN
12 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.100 1.000 11 2005 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.090 0.889 9 2005 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2005 2013
dbSNP: rs386675647
rs386675647
UGT2B7
10 0.790 0.240 4 69098619 missense variant AT/TC mnv 0.020 1.000 2 2005 2008
dbSNP: rs7439366
rs7439366
UGT2B7
16 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 0.020 1.000 2 2005 2008
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.020 1.000 2 2005 2005
dbSNP: rs765502022
rs765502022
UGT2B7
8 0.827 0.240 4 69112695 missense variant T/C snv 1.6E-05 0.020 1.000 2 2005 2008
dbSNP: rs1041983
rs1041983
NAT2
15 0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs1287276985
rs1287276985
VEGFA
7 0.790 0.200 6 43782020 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2005 2005
dbSNP: rs1801280
rs1801280
NAT2
14 0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39 0.010 1.000 1 2005 2005
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2005 2005
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2005 2005
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2005 2005
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.100 1.000 10 2006 2016
dbSNP: rs28931615
rs28931615
FGFR3
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.020 1.000 2 2006 2015
dbSNP: rs17881656
rs17881656
FGFR3
3 0.925 0.240 4 1804404 missense variant T/A;C snv 8.0E-06; 3.3E-03 0.010 1.000 1 2006 2006
dbSNP: rs351855
rs351855
FGFR4
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 1.000 1 2006 2006