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: 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: 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: 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: 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: rs1131691014
rs1131691014
TP53
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
BRAF
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs11788747
rs11788747
RECK
6 0.851 0.240 9 36105267 synonymous variant A/C;G snv 4.0E-06; 0.34 0.010 1.000 1 2015 2015
dbSNP: rs121912657
rs121912657
TP53
8 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
13 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs28941777
rs28941777
WT1
1 0.925 0.160 11 32392053 missense variant A/G snv 0.010 1.000 1 2017 2017
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
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: rs6505162
rs6505162
NSRP1 ; MIR423 ; MIR3184
25 0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs8173
rs8173
AURKA
9 0.763 0.240 20 56369735 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2017 2017
dbSNP: rs9404576
rs9404576
HACE1
2 0.882 0.160 6 104736765 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2009 2015