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: rs807624
rs807624 		2 1.000 0.160 2 15642347 regulatory region variant G/T snv 0.47 0.800 1.000 1 2012 2012
dbSNP: rs121907911
rs121907911
WT1 ; WT1-AS
1 1.000 0.160 11 32434815 stop gained G/T snv 0.700 0
dbSNP: rs80358814
rs80358814
BRCA2
12 0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06 0.700 0
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2017 2019
dbSNP: rs3810366
rs3810366
ERCC2
12 0.732 0.280 19 45370684 5 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4246215
rs4246215
FEN1 ; FADS2
29 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs80358435
rs80358435
BRCA2
11 0.752 0.440 13 32319154 stop gained G/C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs2234584
rs2234584
WT1
5 0.882 0.240 11 32428521 missense variant G/A;T snv 3.9E-04; 2.8E-05 0.700 1.000 4 2004 2017
dbSNP: rs397507327
rs397507327
BRCA2
9 0.776 0.280 13 32338598 stop gained G/A;T snv 4.1E-06 0.700 0
dbSNP: rs397507404
rs397507404
BRCA2
10 0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs397508045
rs397508045
BRCA2
9 0.763 0.320 13 32319101 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs80358391
rs80358391
BRCA2
10 0.763 0.320 13 32319109 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs28897756
rs28897756
BRCA2
11 0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs57961569
rs57961569
MYCN ; MYCNOS
5 0.827 0.200 2 15939643 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs41293511
rs41293511
BRCA2
10 0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs121907909
rs121907909
WT1
4 0.851 0.280 11 32392032 stop gained G/A snv 7.0E-06 0.700 1.000 4 1997 2013
dbSNP: rs122453121
rs122453121
GPC3
2 0.925 0.440 X 133699902 stop gained G/A snv 0.700 1.000 3 2007 2014
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: 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
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
dbSNP: rs2267166
rs2267166
TCN2
1 1.000 0.160 22 30622091 intron variant G/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs2283873
rs2283873
TCN2
1 1.000 0.160 22 30617309 intron variant G/A snv 8.8E-02 0.12 0.800 1.000 1 2012 2012
dbSNP: rs2495478
rs2495478
PCSK9
1 1.000 0.160 1 55047322 non coding transcript exon variant G/A snv 0.13 0.800 1.000 1 2012 2012
dbSNP: rs267607071
rs267607071
SMARCAL1
2 0.925 0.320 2 216475315 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2015 2015