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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2016 2017
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.020 1.000 2 2015 2018
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2015 2018
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2014 2014
dbSNP: rs11191439
rs11191439
AS3MT ; BORCS7-ASMT
6 0.851 0.120 10 102878966 missense variant T/A;C snv 9.2E-02 0.010 1.000 1 2009 2009
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 2007 2007
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
dbSNP: rs121913521
rs121913521
KIT
12 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs156697
rs156697
GSTO2
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs1650697
rs1650697
DHFR ; MSH3
3 0.925 0.120 5 80654962 missense variant A/G;T snv 0.86 0.010 1.000 1 2015 2015
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs3790064
rs3790064
PNP
1 14 20472910 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4810485
rs4810485
CD40
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs6504649
rs6504649
XYLT2
4 0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs7196495
rs7196495
CDH1
1 16 68739957 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs769255883
rs769255883
XPA
2 1.000 0.160 9 97689592 stop gained C/A;G;T snv 1.2E-05; 5.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs771656368
rs771656368
KRIT1
3 0.925 0.200 7 92241059 stop gained G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2006 2006
dbSNP: rs897453
rs897453
PEMT
2 1.000 0.080 17 17522317 missense variant C/A;G;T snv 8.0E-06; 0.34 0.010 1.000 1 2015 2015
dbSNP: rs9266150
rs9266150
HLA-B ; MIR6891
3 0.925 0.040 6 31356368 missense variant A/C;G;T snv 0.12; 7.9E-05; 3.8E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs9989407
rs9989407 		1 16 68730609 intergenic variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs876661024
rs876661024
PTEN
11 0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 0.700 0