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: rs1027643
rs1027643
LOC105379082
1 1.000 0.160 5 92558085 intron variant C/T snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs2283873
rs2283873
TCN2
1 1.000 0.160 22 30617309 intron variant G/A snv 8.8E-02 0.12 0.800 1.000 1 2012 2012
dbSNP: rs2495478
rs2495478
PCSK9
1 1.000 0.160 1 55047322 non coding transcript exon variant G/A snv 0.13 0.800 1.000 1 2012 2012
dbSNP: rs3755132
rs3755132 		1 1.000 0.160 2 15589696 upstream gene variant T/G snv 0.26 0.800 1.000 1 2012 2012
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: 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: rs807624
rs807624 		2 1.000 0.160 2 15642347 regulatory region variant G/T snv 0.47 0.800 1.000 1 2012 2012
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: rs1555913934
rs1555913934
CHEK2
1 1.000 0.160 22 28695868 frameshift variant AG/- del 0.700 1.000 22 1999 2014
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: rs122453121
rs122453121
GPC3
2 0.925 0.440 X 133699902 stop gained G/A snv 0.700 1.000 3 2007 2014
dbSNP: rs10060683
rs10060683 		1 1.000 0.160 5 92523322 intron variant T/C snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs11913239
rs11913239
TCN2
1 1.000 0.160 22 30613852 intron variant C/T snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs1554939839
rs1554939839
WT1
4 0.851 0.280 11 32396372 frameshift variant A/- delins 0.700 1.000 1 2004 2004
dbSNP: rs16988855
rs16988855
TCN2
1 1.000 0.160 22 30615936 intron variant T/C snv 0.12 0.700 1.000 1 2012 2012
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: 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: rs2267166
rs2267166
TCN2
1 1.000 0.160 22 30622091 intron variant G/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs587776576
rs587776576
WT1
7 0.790 0.280 11 32391967 splice region variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs61344503
rs61344503
LOC105379082
1 1.000 0.160 5 92568740 intron variant G/T snv 0.19 0.700 1.000 1 2012 2012
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: 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: rs7288627
rs7288627
TCN2
1 1.000 0.160 22 30619575 intron variant G/A snv 0.11 0.700 1.000 1 2012 2012
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