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: rs6547741
rs6547741
GPN1
7 0.807 0.080 2 27633057 intron variant G/A snv 0.53 0.710 1.000 1 2016 2016
dbSNP: rs10462706
rs10462706
CLPTM1L
6 0.827 0.080 5 1343679 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs10851478
rs10851478
FAM227B ; LOC105370811
6 0.827 0.080 15 49536822 intron variant T/C snv 0.30 0.700 1.000 1 2016 2016
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: 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: rs1800628
rs1800628 		6 0.827 0.080 6 31579073 downstream gene variant G/A snv 7.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs2398180
rs2398180
NR2F2-AS1
6 0.827 0.080 15 96319940 intron variant C/T snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs3129780
rs3129780 		6 0.827 0.080 6 32679924 intergenic variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs3828805
rs3828805
HLA-DQB1
12 0.752 0.160 6 32668343 5 prime UTR variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs77452476
rs77452476
LAMC3
7 0.827 0.080 9 131087186 intron variant T/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs79767424
rs79767424 		7 0.827 0.080 5 19108581 intron variant G/T snv 4.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs8181047
rs8181047
CDKN2B-AS1
7 0.807 0.120 9 22064466 intron variant A/G snv 0.79 0.700 1.000 1 2016 2016
dbSNP: rs928674
rs928674
LAMC3
6 0.827 0.080 9 131076637 intron variant A/G snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2002 2017
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.080 0.750 8 2008 2015
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: 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: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.040 1.000 4 2008 2019
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.030 0.333 3 2012 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: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 1.000 3 2008 2016
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.030 1.000 3 2012 2013