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: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 0
dbSNP: rs397517792
rs397517792
TTN ; TTN-AS1
1 1.000 0.120 2 178764802 missense variant G/A snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs756952113
rs756952113
EPHA4
1 1.000 0.120 2 221482561 missense variant C/T snv 4.0E-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 0.010 1.000 1 2001 2001
dbSNP: rs2066853
rs2066853
AHR
34 0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22 0.010 1.000 1 2002 2002
dbSNP: rs4986826
rs4986826
AHR
3 0.882 0.120 7 17339533 missense variant G/A snv 7.8E-03 2.2E-02 0.010 1.000 1 2002 2002
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: 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: 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: 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
dbSNP: rs587783064
rs587783064
TP53
5 0.851 0.120 17 7669626 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs10234749
rs10234749 		3 0.882 0.120 7 152690784 regulatory region variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1109324
rs1109324 		5 0.827 0.160 6 43762018 intergenic variant G/T snv 0.15 0.010 1.000 1 2007 2007
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2007 2007
dbSNP: rs125701
rs125701
OGG1
7 0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13 0.010 1.000 1 2007 2007
dbSNP: rs1547651
rs1547651 		4 0.851 0.200 6 43762907 regulatory region variant A/T snv 0.15 0.010 1.000 1 2007 2007
dbSNP: rs1805329
rs1805329
RAD23B
15 0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16 0.010 1.000 1 2007 2007