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: rs4810485
rs4810485
CD40
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs61735836
rs61735836
FTCD ; FTCD-AS1
3 21 46152973 missense variant C/T snv 5.7E-02 5.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs113835371
rs113835371
XYLT2
1 17 50353660 missense variant G/A snv 9.3E-03 1.0E-02 0.010 1.000 1 2006 2006
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: 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: 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: rs1043673
rs1043673
NLRP2
2 19 55000864 missense variant C/A snv 0.37 0.39 0.010 1.000 1 2013 2013
dbSNP: rs842647
rs842647
REL
6 0.827 0.400 2 60892336 intron variant G/A snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs1001761
rs1001761
TYMS
2 1.000 0.080 18 662103 intron variant G/A snv 0.50 0.55 0.010 1.000 1 2018 2018
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2006 2006
dbSNP: rs9989407
rs9989407 		1 16 68730609 intergenic variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs7196495
rs7196495
CDH1
1 16 68739957 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs7196661
rs7196661
CDH1
1 16 68740009 intron variant C/T snv 0.80 0.010 1.000 1 2012 2012
dbSNP: rs12919719
rs12919719
CDH1
1 16 68788438 intron variant C/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs1540087
rs1540087
FOLR1
2 1.000 0.080 11 72190447 5 prime UTR variant G/A snv 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2006 2006
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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 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: 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: rs876661024
rs876661024
PTEN
11 0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 0.700 0
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: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2007 2007