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: rs10510731
rs10510731
ULK4
1 1.000 0.160 3 41811818 intron variant C/T snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs10510732
rs10510732 		1 1.000 0.160 3 41965847 upstream gene variant G/A snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs10510733
rs10510733 		1 1.000 0.160 3 41967700 intergenic variant T/C snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs1052501
rs1052501
ULK4
2 0.925 0.160 3 41883906 missense variant C/G;T snv 0.80 0.810 1.000 3 2011 2014
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2009 2009
dbSNP: rs1057517992
rs1057517992
KMT2D
2 0.925 0.240 12 49031861 stop gained G/A snv 0.700 0
dbSNP: rs1057519718
rs1057519718
BRAF
2 0.925 0.160 7 140753355 missense variant CA/TC mnv 0.010 1.000 1 2011 2011
dbSNP: rs1057519877
rs1057519877
B2M ; PATL2
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519933
rs1057519933
PIK3CA
11 0.790 0.240 3 179199156 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519934
rs1057519934
PIK3CA
11 0.790 0.240 3 179199158 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519935
rs1057519935
PIK3CA
11 0.790 0.240 3 179199157 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519977
rs1057519977
TP53
13 0.763 0.360 17 7675189 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519978
rs1057519978
TP53
12 0.763 0.360 17 7675191 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519981
rs1057519981
TP53
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519983
rs1057519983
TP53
16 0.724 0.360 17 7673797 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519996
rs1057519996
TP53
19 0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520007
rs1057520007
TP53
21 0.701 0.440 17 7674917 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10865914
rs10865914
ULK4
1 1.000 0.160 3 41878007 intron variant C/A;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.810 1.000 2 2013 2014
dbSNP: rs10936600
rs10936600
LRRC34
1 1.000 0.160 3 169796797 missense variant A/T snv 0.29 0.21 0.700 1.000 1 2016 2016
dbSNP: rs10936601
rs10936601
LRRC34
2 1.000 0.160 3 169810661 intron variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs10936602
rs10936602
LRRIQ4
3 0.882 0.240 3 169818849 upstream gene variant T/C snv 0.26 0.700 1.000 1 2013 2013
dbSNP: rs10936603
rs10936603
LRRIQ4
1 1.000 0.160 3 169827864 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs11064392
rs11064392
CD4
1 1.000 0.160 12 6789226 intron variant A/G snv 0.14 0.010 1.000 1 2010 2010