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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 11 2003 2018
dbSNP: rs11337
rs11337
GOLGA7
4 0.925 0.120 8 41510767 3 prime UTR variant T/G snv 0.93 0.010 1.000 1 2014 2014
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs2237060
rs2237060
RAD50 ; TH2LCRR
1 1.000 0.120 5 132635193 intron variant T/G snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs3132453
rs3132453
PRRC2A
2 0.925 0.200 6 31636267 missense variant T/G snv 0.96 0.95 0.010 1.000 1 2012 2012
dbSNP: rs16941
rs16941
BRCA1
7 0.827 0.240 17 43092418 missense variant T/C;G snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs886039484
rs886039484
TP53
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs1053667
rs1053667
TOGARAM1
4 0.925 0.120 14 45073835 3 prime UTR variant T/C snv 0.11 0.020 1.000 2 2014 2014
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.020 1.000 2 2006 2014
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 2009 2016
dbSNP: rs2647012
rs2647012 		7 0.790 0.320 6 32696681 intergenic variant T/C snv 0.64 0.020 1.000 2 2013 2017
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.020 0.500 2 2017 2017
dbSNP: rs1041163
rs1041163
VCAM1
3 0.882 0.160 1 100718269 upstream gene variant T/C snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs1127717
rs1127717
ALDH1L1 ; ALDH1L1-AS1
3 0.925 0.160 3 126107216 missense variant T/C snv 0.18 0.20 0.010 1.000 1 2013 2013
dbSNP: rs11943456
rs11943456
TMEM165
18 0.708 0.320 4 55410167 intron variant T/C snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs13306698
rs13306698
PON1
3 0.882 0.240 7 95311470 missense variant T/C snv 6.0E-03 1.9E-03 0.010 1.000 1 2018 2018
dbSNP: rs161870
rs161870
MTRR
2 0.925 0.160 5 7878079 synonymous variant T/C snv 0.18 0.21 0.010 1.000 1 2013 2013
dbSNP: rs16994592
rs16994592
CD70
1 1.000 0.120 19 6586487 intron variant T/C snv 9.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs17024869
rs17024869
NPAS2
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs3733846
rs3733846
CARMN
6 0.807 0.200 5 149425059 non coding transcript exon variant T/C snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs3817198
rs3817198
LSP1
8 0.790 0.280 11 1887776 intron variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2017 2017
dbSNP: rs4516035
rs4516035
VDR
10 0.776 0.360 12 47906043 non coding transcript exon variant T/C snv 0.31 0.010 1.000 1 2012 2012