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: rs1635498
rs1635498
EXO1
9 0.807 0.160 1 241881973 missense variant C/A;G;T snv 0.96 0.010 1.000 1 2009 2009
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.700 1.000 1 2016 2016
dbSNP: rs629849
rs629849
IGF2R
9 0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91 0.010 1.000 1 2012 2012
dbSNP: rs1047972
rs1047972
AURKA
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.010 1.000 1 2019 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs1926447
rs1926447
CPB2 ; CPB2-AS1
11 0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77 0.010 1.000 1 2007 2007
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 0.750 4 2013 2014
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 1.000 5 2003 2015
dbSNP: rs1776148
rs1776148
EXO1
9 0.807 0.160 1 241879243 missense variant A/G snv 0.66 0.66 0.010 1.000 1 2009 2009
dbSNP: rs3816527
rs3816527
PTX3 ; VEPH1
9 0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64 0.010 1.000 1 2019 2019
dbSNP: rs13332
rs13332
CTSB
6 0.925 0.120 8 11849072 synonymous variant T/C;G snv 3.5E-02; 0.56 0.010 1.000 1 2012 2012
dbSNP: rs9862
rs9862
TIMP3 ; SYN3
3 1.000 0.080 22 32857293 missense variant T/A;C snv 4.0E-06; 0.55 0.010 1.000 1 2015 2015
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 0.500 2 2009 2019
dbSNP: rs281377
rs281377
FUT2 ; LOC105447645
4 0.925 0.120 19 48703346 synonymous variant C/T snv 0.49 0.42 0.010 1.000 1 2016 2016
dbSNP: rs2296241
rs2296241
CYP24A1
12 0.763 0.200 20 54169680 synonymous variant G/A snv 0.49 0.51 0.010 1.000 1 2012 2012
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2019 2019
dbSNP: rs12338
rs12338
CTSB
10 0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs2071676
rs2071676
CA9 ; ARHGEF39
4 0.925 0.120 9 35674056 missense variant G/A snv 0.37 0.30 0.010 1.000 1 2012 2012
dbSNP: rs1047840
rs1047840
EXO1
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2009 2009
dbSNP: rs11788747
rs11788747
RECK
6 0.851 0.240 9 36105267 synonymous variant A/C;G snv 4.0E-06; 0.34 0.010 < 0.001 1 2011 2011
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2011 2013
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.333 3 2007 2013
dbSNP: rs10972727
rs10972727
RECK
4 0.882 0.200 9 36110066 synonymous variant T/A snv 0.32 0.28 0.010 < 0.001 1 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011