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: 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
2 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
10 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
3 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
29 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018
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: 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: rs6508
rs6508
WT1-AS
3 0.882 0.160 11 32438918 non coding transcript exon variant G/A snv 8.3E-02 0.16 0.010 1.000 1 2005 2005
dbSNP: rs6581658
rs6581658
HMGA2 ; RPSAP52
2 0.925 0.160 12 65823565 intron variant A/G snv 0.14 0.010 1.000 1 2019 2019
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: rs749280481
rs749280481
SLC22A18
3 0.925 0.160 11 2922102 missense variant G/A snv 1.3E-04 1.4E-04 0.010 1.000 1 1998 1998
dbSNP: rs7585356
rs7585356
BARD1
1 1.000 0.160 2 214727582 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2017 2017
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: rs776031963
rs776031963
CRB2
1 1.000 0.160 9 123371433 missense variant G/A snv 2.0E-05 2.1E-05 0.010 1.000 1 2019 2019
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: rs8756
rs8756
HMGA2
7 0.882 0.200 12 65965972 3 prime UTR variant C/A snv 0.56 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
3 0.882 0.160 6 104736765 intron variant T/A;G snv 0.010 1.000 1 2017 2017