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: 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: 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: rs3755132
rs3755132 		1 1.000 0.160 2 15589696 upstream gene variant T/G snv 0.26 0.800 1.000 1 2012 2012
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: rs587776576
rs587776576
WT1
7 0.790 0.280 11 32391967 splice region variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs5955543
rs5955543
NHS
1 1.000 0.160 X 17680277 intron variant A/G snv 0.17 0.800 1.000 1 2012 2012
dbSNP: rs61344503
rs61344503
LOC105379082
1 1.000 0.160 5 92568740 intron variant G/T snv 0.19 0.700 1.000 1 2012 2012
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: rs6887553
rs6887553 		1 1.000 0.160 5 92510102 intron variant A/G snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs7288385
rs7288385
TCN2
1 1.000 0.160 22 30619586 intron variant C/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs7288627
rs7288627
TCN2
1 1.000 0.160 22 30619575 intron variant G/A snv 0.11 0.700 1.000 1 2012 2012
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: rs790356
rs790356
DLG2
1 1.000 0.160 11 83909744 intron variant A/G snv 0.50 0.800 1.000 1 2012 2012
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