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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2017 2017
dbSNP: rs1554945232
rs1554945232
WT1
4 0.851 0.280 11 32428598 frameshift variant -/C delins 0.700 0
dbSNP: rs1554939839
rs1554939839
WT1
4 0.851 0.280 11 32396372 frameshift variant A/- delins 0.700 1.000 1 2004 2004
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: 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: 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: 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: rs7290898
rs7290898
TCN2
1 1.000 0.160 22 30615293 splice region variant A/C;G;T snv 7.9E-02; 2.9E-04; 1.1E-03 0.700 1.000 1 2012 2012
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: 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
dbSNP: rs110419
rs110419
LMO1 ; LOC105376536
8 0.827 0.200 11 8231306 intron variant A/G snv 0.42 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: rs1799937
rs1799937
WT1
3 0.882 0.160 11 32389228 intron variant A/G snv 0.35 0.35 0.010 1.000 1 2005 2005
dbSNP: rs2221269
rs2221269
LOC105379082
1 1.000 0.160 5 92571299 intron variant A/G snv 7.3E-02 0.700 1.000 1 2012 2012
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: rs28941777
rs28941777
WT1
2 0.925 0.160 11 32392053 missense variant A/G snv 0.010 1.000 1 2017 2017
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: 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: 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: rs80359014
rs80359014
BRCA2
10 0.763 0.320 13 32362596 missense variant A/G;T snv 0.700 0
dbSNP: rs80358427
rs80358427
BRCA2
10 0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 0.700 0
dbSNP: rs80359031
rs80359031
BRCA2
10 0.763 0.320 13 32363190 missense variant A/T snv 0.700 0
dbSNP: rs1555913934
rs1555913934
CHEK2
1 1.000 0.160 22 28695868 frameshift variant AG/- del 0.700 1.000 22 1999 2014
dbSNP: rs1131690795
rs1131690795
WT1 ; WT1-AS
1 1.000 0.160 11 32434769 frameshift variant C/- delins 0.700 0