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: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.040 1.000 4 2010 2012
dbSNP: rs1057520018
rs1057520018
STK11
6 0.807 0.080 19 1223124 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs11554137
rs11554137
IDH1
13 0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs1424098571
rs1424098571
NT5C2
1 1.000 0.040 10 103093263 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs200945282
rs200945282
KIT
3 0.882 0.160 4 54727462 missense variant G/T snv 1.8E-04 8.4E-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: rs4643786
rs4643786
DCK
2 0.925 0.040 4 71029543 3 prime UTR variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs536880332
rs536880332
IDH1
1 1.000 0.040 2 208239165 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs59912467
rs59912467
STK11
7 0.790 0.120 19 1223126 missense variant C/G;T snv 5.2E-03; 4.1E-06 0.010 1.000 1 2018 2018