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: rs121907911
rs121907911
WT1 ; WT1-AS
1 1.000 0.160 11 32434815 stop gained G/T snv 0.700 0
dbSNP: rs121912657
rs121912657
TP53
24 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs121913409
rs121913409
CTNNB1
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs122453119
rs122453119
GPC3
1 1.000 0.160 X 133754153 missense variant G/A snv 0.700 0
dbSNP: rs122453120
rs122453120
GPC3
1 1.000 0.160 X 133536162 missense variant C/T snv 0.700 0
dbSNP: rs122453121
rs122453121
GPC3
2 0.925 0.440 X 133699902 stop gained G/A snv 0.700 1.000 3 2007 2014
dbSNP: rs1243010179
rs1243010179
CTCF
1 1.000 0.160 16 67616807 missense variant C/T snv 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: rs1423753702
rs1423753702
WT1
6 0.807 0.280 11 32396401 stop gained G/A snv 1.4E-05 0.710 1.000 2 1997 2009
dbSNP: rs1553551874
rs1553551874
DIS3L2
1 1.000 0.160 2 232334720 frameshift variant GC/- delins 0.700 0
dbSNP: rs1554939839
rs1554939839
WT1
4 0.851 0.280 11 32396372 frameshift variant A/- delins 0.700 1.000 1 2004 2004
dbSNP: rs1554945033
rs1554945033
WT1
1 1.000 0.160 11 32427961 inframe deletion TAG/- delins 0.700 0
dbSNP: rs1554945232
rs1554945232
WT1
4 0.851 0.280 11 32428598 frameshift variant -/C delins 0.700 0
dbSNP: rs1554946500
rs1554946500
WT1 ; WT1-AS
4 0.851 0.280 11 32434883 stop gained G/A snv 0.700 0
dbSNP: rs1554946600
rs1554946600
WT1 ; WT1-AS
4 0.851 0.280 11 32435027 frameshift variant C/- delins 0.700 0
dbSNP: rs1555913934
rs1555913934
CHEK2
1 1.000 0.160 22 28695868 frameshift variant AG/- del 0.700 1.000 22 1999 2014
dbSNP: rs1556297749
rs1556297749
GPC3
1 1.000 0.160 X 133753860 frameshift variant CTGGGTCATAATAAGCTTGGGGAAAT/TGCAAG delins 0.700 0
dbSNP: rs1565000973
rs1565000973
WT1 ; WT1-AS
4 0.851 0.280 11 32434708 frameshift variant C/- del 0.700 0
dbSNP: rs1565001383
rs1565001383
WT1 ; WT1-AS
2 0.925 0.200 11 32434889 stop gained C/A snv 0.700 0
dbSNP: rs1569392947
rs1569392947
GPC3
1 1.000 0.160 X 133596542 stop gained C/A snv 0.700 0
dbSNP: rs1569408743
rs1569408743
GPC3
1 1.000 0.160 X 133661836 frameshift variant G/- del 0.700 0
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: 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: rs174538
rs174538
TMEM258 ; FEN1 ; MIR611
21 0.701 0.440 11 61792609 5 prime UTR variant G/A snv 0.34 0.26 0.010 1.000 1 2018 2018