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: rs1554946600
rs1554946600
WT1 ; WT1-AS
4 0.851 0.280 11 32435027 frameshift variant C/- delins 0.700 0
dbSNP: rs1565000973
rs1565000973
WT1 ; WT1-AS
4 0.851 0.280 11 32434708 frameshift variant C/- del 0.700 0
dbSNP: rs587776574
rs587776574
WT1
1 1.000 0.160 11 32399967 frameshift variant C/- delins 0.700 0
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: 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: 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: rs1565001383
rs1565001383
WT1 ; WT1-AS
2 0.925 0.200 11 32434889 stop gained C/A snv 0.700 0
dbSNP: rs1569392947
rs1569392947
GPC3
1 1.000 0.160 X 133596542 stop gained C/A snv 0.700 0
dbSNP: rs80358785
rs80358785
BRCA2
9 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 0
dbSNP: rs80359200
rs80359200
BRCA2
12 0.752 0.320 13 32394726 stop gained C/A;G snv 8.0E-06 0.700 0
dbSNP: rs80358721
rs80358721
BRCA2
14 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 0.700 0
dbSNP: rs121912657
rs121912657
TP53
24 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913409
rs121913409
CTNNB1
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
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: rs41293497
rs41293497
BRCA2
14 0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 0.700 0
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: rs80358557
rs80358557
BRCA2
10 0.763 0.320 13 32337464 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs80358972
rs80358972
BRCA2
12 0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 0.700 0
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: rs80358893
rs80358893
BRCA2
10 0.763 0.320 13 32341011 stop gained C/G snv 0.700 0
dbSNP: rs1037084691
rs1037084691
WT1
5 0.827 0.160 11 32392031 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2009857
rs2009857
TCN2
1 1.000 0.160 22 30618390 intron variant C/G;T snv 0.700 1.000 1 2012 2012
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: rs80358920
rs80358920
BRCA2
14 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 0
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