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: 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: 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
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
dbSNP: rs2230641
rs2230641
CCNH
8 0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17 0.010 1.000 1 2007 2007
dbSNP: rs3024994
rs3024994
VEGFA
8 0.776 0.120 6 43775770 non coding transcript exon variant C/T snv 3.8E-02 0.010 1.000 1 2007 2007
dbSNP: rs3136820
rs3136820
APEX1
8 0.776 0.200 14 20456995 missense variant T/A;C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs3218373
rs3218373
XRCC2
5 0.827 0.120 7 152677078 upstream gene variant C/A snv 0.15 0.010 1.000 1 2007 2007
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2007 2007
dbSNP: rs6464268
rs6464268 		3 0.882 0.120 7 152684065 intergenic variant A/G snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs776223836
rs776223836
ERCC2
11 0.763 0.280 19 45364045 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs778990691
rs778990691
CCNH
6 0.807 0.240 5 87395069 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs80357138
rs80357138
BRCA1
9 0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs386675647
rs386675647
UGT2B7
10 0.790 0.240 4 69098619 missense variant AT/TC mnv 0.020 1.000 2 2005 2008