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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2010 2015
dbSNP: rs28360317
rs28360317
XRCC4
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.020 1.000 2 2009 2012
dbSNP: rs56228771
rs56228771
SGSM3 ; MRTFA
5 0.827 0.200 22 40410091 3 prime UTR variant -/GTCT;GTCTGTCT delins 0.010 1.000 1 2018 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: rs11077654
rs11077654
SLC39A11
3 0.882 0.120 17 73010373 intron variant A/C snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1194611372
rs1194611372
S100A11
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs17650301
rs17650301
POLG2 ; MILR1
3 0.925 0.120 17 64483156 intron variant A/C snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs779682021
rs779682021
CYP1A1
5 0.882 0.120 15 74721227 missense variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs41277434
rs41277434
EZH2
6 0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11892031
rs11892031
UGT1A10 ; UGT1A8
5 0.882 0.120 2 233656637 intron variant A/C;T snv 0.730 0.750 4 2010 2015
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: rs17855750
rs17855750
IL27
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.020 1.000 2 2015 2015
dbSNP: rs9913017
rs9913017
SLC39A11
3 0.882 0.120 17 73014881 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.090 0.889 9 2005 2013
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.080 1.000 8 2001 2019
dbSNP: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 3 2009 2014
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2004 2009
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.020 1.000 2 2015 2017
dbSNP: rs768623239
rs768623239
GSTM1 ; GSTM2
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.020 1.000 2 2001 2013
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs10811474
rs10811474 		11 0.742 0.240 9 21114238 intergenic variant A/G snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs11191454
rs11191454
AS3MT ; BORCS7-ASMT ; LOC107984265
9 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2007 2007