Source: BEFREE ×
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: rs11655237
rs11655237
LINC00511 ; LINC00673
17 0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 0.020 0.500 2 2019 2019
dbSNP: rs1037084691
rs1037084691
WT1
4 0.827 0.160 11 32392031 missense variant C/G;T snv 0.010 1.000 1 2015 2015
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: 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: rs10767935
rs10767935
WT1
1 1.000 0.160 11 32405158 intron variant C/T snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs110419
rs110419
LMO1 ; LOC105376536
6 0.827 0.200 11 8231306 intron variant A/G snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
TP53
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2017 2017
dbSNP: rs11994014
rs11994014 		5 0.827 0.200 8 24944767 intergenic variant A/G snv 0.70 0.010 1.000 1 2019 2019
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
13 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
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
3 0.807 0.280 11 32396401 stop gained G/A snv 1.4E-05 0.710 1.000 1 1997 2009
dbSNP: rs2168101
rs2168101
LMO1 ; LOC105376536
5 0.827 0.200 11 8233861 intron variant C/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2301254
rs2301254
WT1 ; WT1-AS
3 0.882 0.160 11 32436129 intron variant A/G snv 0.48 0.010 1.000 1 2005 2005
dbSNP: rs2857461
rs2857461
EWSR1
3 0.882 0.160 22 29272015 intron variant C/T snv 0.98 0.010 1.000 1 2012 2012
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: rs28941777
rs28941777
WT1
1 0.925 0.160 11 32392053 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs2979704
rs2979704
NEFL
5 0.827 0.200 8 24951554 3 prime UTR variant C/T snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs314276
rs314276
LIN28B
8 0.807 0.280 6 104960124 intron variant A/C snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs34787247
rs34787247
LIN28A
4 0.851 0.200 1 26428582 3 prime UTR variant A/C;G snv 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
dbSNP: rs376882637
rs376882637
TRIP13
2 0.882 0.160 5 914504 stop gained C/A;G;T snv 0.010 1.000 1 2020 2020
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: 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: rs4246215
rs4246215
FEN1 ; FADS2
14 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018