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: rs587776573
rs587776573
WT1
1 1.000 0.160 11 32417633 frameshift variant TTTGGTATAAATTGTCA/- delins 0.700 0
dbSNP: rs1554945033
rs1554945033
WT1
1 1.000 0.160 11 32427961 inframe deletion TAG/- delins 0.700 0
dbSNP: rs12587
rs12587
KRAS
5 0.827 0.200 12 25205894 3 prime UTR variant T/G snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs3755132
rs3755132 		1 1.000 0.160 2 15589696 upstream gene variant T/G snv 0.26 0.800 1.000 1 2012 2012
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.100 1.000 11 2011 2018
dbSNP: rs10060683
rs10060683 		1 1.000 0.160 5 92523322 intron variant T/C snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs1049509674
rs1049509674
WT1 ; WT1-AS
2 0.925 0.200 11 32435341 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs1188182005
rs1188182005
WT1
2 0.925 0.200 11 32430535 missense variant T/C snv 4.2E-06 7.1E-06 0.010 1.000 1 2002 2002
dbSNP: rs16988855
rs16988855
TCN2
1 1.000 0.160 22 30615936 intron variant T/C snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs2234590
rs2234590
WT1
1 1.000 0.160 11 32399987 synonymous variant T/C snv 1.2E-02 4.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs28647582
rs28647582
PHOX2B ; PHOX2B-AS1
3 0.882 0.200 4 41747248 intron variant T/C snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs5030244
rs5030244
WT1
1 1.000 0.160 11 32402206 intron variant T/C snv 4.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2014 2014
dbSNP: rs8141515
rs8141515
TCN2
1 1.000 0.160 22 30622085 intron variant T/C snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs968697
rs968697
HMGA2 ; RPSAP52
2 0.925 0.160 12 65823891 intron variant T/C snv 8.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs1059111
rs1059111
NEFL
5 0.827 0.200 8 24952575 3 prime UTR variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs9404576
rs9404576
HACE1
3 0.882 0.160 6 104736765 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs3811463
rs3811463
LIN28A
14 0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs10972727
rs10972727
RECK
4 0.882 0.200 9 36110066 synonymous variant T/A snv 0.32 0.28 0.010 < 0.001 1 2015 2015
dbSNP: rs80359604
rs80359604
BRCA2
10 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2017 2017
dbSNP: rs1553551874
rs1553551874
DIS3L2
1 1.000 0.160 2 232334720 frameshift variant GC/- delins 0.700 0
dbSNP: rs2234593
rs2234593
WT1
3 0.882 0.160 11 32392787 non coding transcript exon variant G/T snv 9.3E-02 0.13 0.010 1.000 1 2016 2016
dbSNP: rs61344503
rs61344503
LOC105379082
1 1.000 0.160 5 92568740 intron variant G/T snv 0.19 0.700 1.000 1 2012 2012