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: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2005 2007
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 1.000 3 2005 2008
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008
dbSNP: rs2297518
rs2297518
NOS2
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 1.000 1 2008 2008
dbSNP: rs756340448
rs756340448
ERCC2
8 0.790 0.240 19 45369135 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs766958673
rs766958673
CBS
4 0.851 0.120 21 43066293 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs3127075
rs3127075
CASP7
1 1.000 0.080 10 113712354 intron variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs4661636
rs4661636
CASP9
2 0.925 0.160 1 15496566 intron variant C/T snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs1035142
rs1035142
FLACC1
7 0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs11775256
rs11775256
TNFRSF10A
1 1.000 0.080 8 23193972 intron variant C/T snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs17757541
rs17757541
BCL2
7 0.827 0.240 18 63212453 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2011 2011
dbSNP: rs2236302
rs2236302
MMP14
1 1.000 0.080 14 22843345 synonymous variant C/A;G snv 8.0E-06; 0.12 0.010 1.000 1 2011 2011
dbSNP: rs2445762
rs2445762
CYP19A1
4 1.000 0.080 15 51325511 intron variant T/C snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs4740363
rs4740363
ABL1
1 1.000 0.080 9 130753797 intron variant A/G snv 7.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs696217
rs696217
GHRL ; GHRLOS
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs720321
rs720321
BCL2
1 1.000 0.080 18 63215417 intron variant G/A snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs11941492
rs11941492
KDR
2 1.000 0.080 4 55112043 intron variant C/T snv 0.24 0.020 1.000 2 2011 2012
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs17619601
rs17619601
FLT1
1 1.000 0.080 13 28326373 intron variant C/T snv 5.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs17625898
rs17625898
FLT1
1 1.000 0.080 13 28358693 intron variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs17708574
rs17708574
PDGFRB
1 1.000 0.080 5 150141675 intron variant G/A snv 8.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs199907548
rs199907548
CDKN2A
5 0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04 0.010 1.000 1 2012 2012