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: 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: 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: 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: 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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
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: 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: rs2168101
rs2168101
LMO1 ; LOC105376536
7 0.827 0.200 11 8233861 intron variant C/A snv 0.24 0.010 1.000 1 2019 2019
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: 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: 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: 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: 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: 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: 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: 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: rs968697
rs968697
HMGA2 ; RPSAP52
2 0.925 0.160 12 65823891 intron variant T/C snv 8.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.100 1.000 11 2011 2018
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2018 2018
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: 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: 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