Source: BEFREE ×
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: rs1423753702
rs1423753702
WT1
3 0.807 0.280 11 32396401 stop gained G/A snv 1.4E-05 0.710 1.000 1 1997 2009
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: rs1049509674
rs1049509674
WT1 ; WT1-AS
2 0.925 0.200 11 32435341 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs1188182005
rs1188182005
WT1
2 0.925 0.200 11 32430535 missense variant T/C snv 4.2E-06 7.1E-06 0.010 1.000 1 2002 2002
dbSNP: rs121913409
rs121913409
CTNNB1
13 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
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: rs2234590
rs2234590
WT1
1 1.000 0.160 11 32399987 synonymous variant T/C snv 1.2E-02 4.6E-02 0.010 1.000 1 2005 2005
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: 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: 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: 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: 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: rs662
rs662
PON1
153 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2014 2014
dbSNP: rs1037084691
rs1037084691
WT1
4 0.827 0.160 11 32392031 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs10767935
rs10767935
WT1
1 1.000 0.160 11 32405158 intron variant C/T snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs10972727
rs10972727
RECK
4 0.882 0.200 9 36110066 synonymous variant T/A snv 0.32 0.28 0.010 < 0.001 1 2015 2015
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: rs121912657
rs121912657
TP53
8 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1801133
rs1801133
MTHFR
169 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2015 2015
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: 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: rs2234593
rs2234593
WT1
3 0.882 0.160 11 32392787 non coding transcript exon variant G/T snv 9.3E-02 0.13 0.010 1.000 1 2016 2016
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