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: rs1447708158
rs1447708158
RAF1
1 1.000 0.120 3 12604160 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs764168570
rs764168570
RAF1
1 1.000 0.120 3 12608879 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
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: rs150865017
rs150865017
ALDH1L1
1 1.000 0.120 3 126154627 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs4150506
rs4150506
ERCC3
4 0.851 0.120 2 127262970 intron variant G/A snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs2167270
rs2167270
LEP
17 0.724 0.280 7 128241296 5 prime UTR variant G/A snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2012 2012
dbSNP: rs2308321
rs2308321
MGMT
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2007 2007
dbSNP: rs2308327
rs2308327
MGMT
10 0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 0.010 1.000 1 2007 2007
dbSNP: rs4975616
rs4975616 		12 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs2069812
rs2069812
IL5
5 0.851 0.240 5 132544224 intron variant A/G snv 0.54 0.010 1.000 1 2011 2011
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: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2009 2009
dbSNP: rs146713238
rs146713238
IL4 ; LOC105379176
1 1.000 0.120 5 132679861 missense variant G/A snv 3.2E-05 8.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs2070673
rs2070673
CYP2E1 ; LOC107984284
5 0.827 0.160 10 133527063 non coding transcript exon variant A/T snv 0.67 0.010 1.000 1 2011 2011
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: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.010 1.000 1 2003 2003
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs121913357
rs121913357
BRAF
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs75002266
rs75002266
ORC4
6 0.827 0.160 2 147939241 missense variant G/A snv 3.2E-03 3.0E-03 0.010 1.000 1 2009 2009
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: rs17723799
rs17723799
MIR143 ; CARMN
1 1.000 0.120 5 149427514 non coding transcript exon variant C/T snv 9.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs41291957
rs41291957
MIR143 ; MIR145 ; CARMN
7 0.882 0.200 5 149428827 intron variant G/A snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1314305899
rs1314305899
NOS3
6 0.807 0.280 7 151003224 missense variant C/T snv 7.9E-06 2.1E-05 0.010 1.000 1 2006 2006