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: rs1057519921
rs1057519921
NFE2L2
10 0.763 0.240 2 177234231 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519929
rs1057519929
PIK3CA
10 0.776 0.320 3 179199066 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519932
rs1057519932
PIK3CA
22 0.683 0.320 3 179234298 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519949
rs1057519949
RHEB
6 0.851 0.120 7 151490964 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519950
rs1057519950
RHEB
5 0.827 0.200 7 151490963 missense variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519960
rs1057519960
SF3B2
7 0.827 0.280 11 66063413 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519973
rs1057519973
ELOC
1 1.000 0.120 8 73946733 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519974
rs1057519974
ELOC
1 1.000 0.120 8 73946734 missense variant A/T 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: rs1057519983
rs1057519983
TP53
16 0.724 0.360 17 7673797 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519992
rs1057519992
TP53
14 0.742 0.400 17 7674890 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
TP53
12 0.763 0.160 17 7674247 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520002
rs1057520002
TP53
20 0.695 0.360 17 7674242 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
20 0.695 0.320 17 7675996 missense variant T/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: rs11125068
rs11125068
EPAS1
1 1.000 0.120 2 46300677 intron variant A/G snv 0.62 0.700 1.000 1 2011 2011
dbSNP: rs11263654
rs11263654 		1 1.000 0.120 11 69423355 upstream gene variant C/T snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11637556
rs11637556
MAP2K1
1 1.000 0.120 15 66436613 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs11684885
rs11684885
EPAS1
1 1.000 0.120 2 46306413 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs11689011
rs11689011
EPAS1
2 1.000 0.120 2 46314037 intron variant T/A;C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs12105521
rs12105521
ZEB2
1 1.000 0.120 2 144450769 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016