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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2005 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2010 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 1.000 7 2010 2015
dbSNP: rs798766
rs798766
TACC3
6 0.851 0.120 4 1732512 intron variant T/C snv 0.76 0.060 0.833 6 2011 2017
dbSNP: rs9642880
rs9642880
CASC11
9 0.776 0.240 8 127705823 intron variant G/A;T snv 0.060 1.000 6 2009 2015
dbSNP: rs710521
rs710521 		4 0.851 0.200 3 189928144 intergenic variant T/C snv 0.24 0.040 1.000 4 2009 2018
dbSNP: rs833052
rs833052 		5 0.827 0.160 6 43755598 intergenic variant A/C snv 0.88 0.040 1.000 4 2007 2019
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.040 1.000 4 2003 2017
dbSNP: rs11892031
rs11892031
UGT1A10 ; UGT1A8
5 0.882 0.120 2 233656637 intron variant A/C;T snv 0.030 0.667 3 2010 2015
dbSNP: rs1258159645
rs1258159645
NQO1
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.030 1.000 3 2011 2017
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.030 0.667 3 2017 2019
dbSNP: rs762551
rs762551
CYP1A2
23 0.701 0.400 15 74749576 intron variant C/A snv 0.67 0.030 1.000 3 2015 2016
dbSNP: rs1014971
rs1014971 		3 0.882 0.120 22 38936618 regulatory region variant C/T snv 0.55 0.020 1.000 2 2010 2016
dbSNP: rs1043210477
rs1043210477
GPX1
19 0.701 0.520 3 49358250 missense variant G/A snv 0.020 0.500 2 2004 2014
dbSNP: rs1046778
rs1046778
AS3MT ; BORCS7-ASMT ; LOC107984265
4 0.851 0.160 10 102901727 3 prime UTR variant T/C snv 0.30 0.020 1.000 2 2018 2018
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.020 0.500 2 2013 2014
dbSNP: rs10748835
rs10748835
AS3MT ; BORCS7-ASMT ; LOC107984265
5 0.827 0.160 10 102900499 non coding transcript exon variant G/A snv 0.41 0.020 1.000 2 2018 2018
dbSNP: rs1495741
rs1495741 		9 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 0.020 1.000 2 2014 2016
dbSNP: rs153109
rs153109
IL27
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.020 1.000 2 2015 2015
dbSNP: rs17674580
rs17674580
SLC14A1 ; LOC105372093
3 0.882 0.120 18 45729946 5 prime UTR variant C/A;T snv 0.020 1.000 2 2014 2014
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.020 1.000 2 2013 2014
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.020 1.000 2 2011 2013
dbSNP: rs28360071
rs28360071
XRCC4
18 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 0.020 1.000 2 2009 2013
dbSNP: rs28931615
rs28931615
FGFR3
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.020 1.000 2 2006 2015
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.020 1.000 2 2019 2019