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: rs779315943
rs779315943
DNMT3A
5 0.882 0.160 2 25247708 frameshift variant TTTCC/- del 0.010 1.000 1 2010 2010
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.818 11 2005 2014
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.030 1.000 3 2013 2015
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2015 2018
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.020 1.000 2 2012 2013
dbSNP: rs10511729
rs10511729
LOC101929563
11 0.742 0.240 9 23557229 intron variant T/G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs10787498
rs10787498
CASP7
2 0.925 0.080 10 113729891 3 prime UTR variant T/G snv 0.38 0.010 1.000 1 2013 2013
dbSNP: rs1135354
rs1135354
IL18R1
3 0.925 0.080 2 102397842 3 prime UTR variant T/G snv 0.23 0.010 < 0.001 1 2015 2015
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2013 2013
dbSNP: rs1924966
rs1924966 		6 0.807 0.080 13 72432915 intergenic variant T/G snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs207454
rs207454
XDH
4 0.851 0.120 2 31344766 intron variant T/G snv 0.11 0.16 0.010 1.000 1 2018 2018
dbSNP: rs2240688
rs2240688
PROM1 ; FGFBP2
7 0.790 0.160 4 15968726 3 prime UTR variant T/G snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2015 2015
dbSNP: rs2675
rs2675
ITGB5
4 0.882 0.120 3 124763266 3 prime UTR variant T/G snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs353639
rs353639
CD44 ; SNORD164
5 0.851 0.120 11 35162817 intron variant T/G snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs384490
rs384490
CARS1
2 0.925 0.080 11 3057655 splice region variant T/G snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs579501
rs579501
LOC283028
2 0.925 0.080 10 42751347 non coding transcript exon variant T/G snv 5.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs63750795
rs63750795
MSH2
1 1.000 0.080 2 47480854 missense variant T/G snv 0.700 0
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.020 0.500 2 2012 2016
dbSNP: rs6087990
rs6087990
DNMT3B
4 0.925 0.080 20 32762102 upstream gene variant T/C;G snv 0.020 1.000 2 2012 2016
dbSNP: rs9297976
rs9297976
PSCA ; JRK
7 0.790 0.160 8 142670817 intron variant T/C;G snv 0.020 1.000 2 2012 2013
dbSNP: rs17109928
rs17109928
NOC3L
3 0.882 0.080 10 94338336 intron variant T/C;G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2447867
rs2447867
ITGA1
2 0.925 0.080 5 52861540 missense variant T/C;G snv 0.79; 4.0E-06 0.010 1.000 1 2013 2013