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: 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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.050 1.000 5 2003 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2011 2017
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.050 1.000 5 2003 2015
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: rs2040639
rs2040639
XRCC2
2 1.000 0.080 7 152678103 upstream gene variant T/C;G snv 0.020 1.000 2 2008 2015
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.020 1.000 2 2015 2019
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2018 2019
dbSNP: rs10399805
rs10399805
CHI3L1
7 0.851 0.240 1 203186870 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 < 0.001 1 2012 2012
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: 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: rs1208415127
rs1208415127
RASSF1
6 0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
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: 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: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2016 2016
dbSNP: rs1271546630
rs1271546630
MPO
2 1.000 0.120 17 58277848 missense variant G/A;C snv 0.010 1.000 1 2010 2010
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: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1453414
rs1453414
TRIM5 ; OR52N2
7 0.827 0.080 11 5807854 intron variant G/C;T snv 0.700 1.000 1 2016 2016
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: rs16914640
rs16914640
CLEC2D
2 1.000 0.120 12 9669791 missense variant C/G;T snv 0.14; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2012 2012
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 < 0.001 1 2013 2013
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