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: rs17757541
rs17757541
BCL2
7 0.827 0.240 18 63212453 intron variant C/G;T snv 0.010 1.000 1 2011 2011
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: 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: 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: 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: rs12465911
rs12465911 		2 0.925 0.080 2 150929228 intergenic variant C/T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs13396805
rs13396805 		2 0.925 0.080 2 150964998 intergenic variant C/T snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs17002540
rs17002540 		1 1.000 0.080 X 140863896 intergenic variant C/T snv 0.20 0.700 1.000 1 2018 2018
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: 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: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.010 1.000 1 2014 2014
dbSNP: rs2342002
rs2342002 		1 1.000 0.080 6 61285855 intergenic variant C/T snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs2518720
rs2518720
CDKN2A
2 0.925 0.080 9 21978980 intron variant C/T snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs2971030
rs2971030
LOC105375146
2 0.925 0.080 7 9966714 intron variant C/T snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs3219472
rs3219472
MUTYH ; TOE1
3 0.882 0.160 1 45338378 5 prime UTR variant C/T snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs3794405
rs3794405
FLT1
1 1.000 0.080 13 28432710 intron variant C/T snv 0.77 0.010 1.000 1 2015 2015
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: rs9918259
rs9918259
TPPP ; CEP72
2 0.925 0.080 5 662977 3 prime UTR variant C/T snv 2.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs199620551
rs199620551
CRTC1
2 0.925 0.080 19 18693485 intron variant G/- del 9.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs13429103
rs13429103
LOC107985847
1 1.000 0.080 2 7377100 intergenic variant G/A snv 0.16 0.710 1.000 1 2018 2018
dbSNP: rs17451754
rs17451754
CFTR
2 0.925 0.080 7 117616658 intron variant G/A snv 0.10 0.710 1.000 1 2016 2016
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: rs17749155
rs17749155
MSRA
2 0.925 0.080 8 10210563 intron variant G/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 < 0.001 1 2016 2016
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