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: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs138106763
rs138106763
SLC12A9
2 1.000 0.040 7 100857102 missense variant A/G snv 7.2E-05 1.2E-04 0.010 1.000 1 1998 1998
dbSNP: rs5030821
rs5030821
VHL
8 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs16999593
rs16999593
DNMT1
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs1284806277
rs1284806277
MOK
13 0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2017 2017
dbSNP: rs2001389
rs2001389
SUFU
3 0.925 0.120 10 102615501 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs281432
rs281432
ICAM1
12 0.851 0.280 19 10279982 intron variant C/G snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.030 1.000 3 2013 2016
dbSNP: rs3093030
rs3093030
ICAM1 ; ICAM4
6 0.925 0.120 19 10286727 non coding transcript exon variant C/T snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs1261963959
rs1261963959
KIF1B
1 1 10297069 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2014 2014
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.040 1.000 4 2008 2016
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 < 0.001 1 2016 2016
dbSNP: rs61734277
rs61734277
GCM2
5 0.882 0.080 6 10874672 missense variant A/C snv 9.1E-03 8.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs246079
rs246079
UNG
9 0.790 0.120 12 109109255 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1332018
rs1332018
GSTM3 ; GSTM5
6 0.882 0.200 1 109740350 5 prime UTR variant G/T snv 0.64 0.66 0.010 1.000 1 2013 2013
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2013 2013
dbSNP: rs773442580
rs773442580
EGF
7 0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs104893859
rs104893859
PITX2
3 0.925 0.080 4 110618669 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs28936409
rs28936409
PITX2
2 1.000 0.080 4 110621303 missense variant C/A;G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2016 2017
dbSNP: rs201745983
rs201745983
ALDH2
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.010 1.000 1 2006 2006
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2006 2006