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: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2014 2014
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: rs11994014
rs11994014 		5 0.827 0.200 8 24944767 intergenic variant A/G snv 0.70 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: 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: 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: 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: rs121907909
rs121907909
WT1
4 0.851 0.280 11 32392032 stop gained G/A snv 7.0E-06 0.700 1.000 4 1997 2013
dbSNP: rs2234584
rs2234584
WT1
5 0.882 0.240 11 32428521 missense variant G/A;T snv 3.9E-04; 2.8E-05 0.700 1.000 4 2004 2017
dbSNP: rs1423753702
rs1423753702
WT1
6 0.807 0.280 11 32396401 stop gained G/A snv 1.4E-05 0.710 1.000 2 1997 2009
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: 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: 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: 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: 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: rs1554939839
rs1554939839
WT1
4 0.851 0.280 11 32396372 frameshift variant A/- delins 0.700 1.000 1 2004 2004
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: 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: 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: 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: 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: 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: 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