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: rs1131691023
rs1131691023
TP53
2 1.000 0.080 17 7675142 missense variant A/G;T snv 0.700 0
dbSNP: rs6471
rs6471
CYP21A2
24 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.010 1.000 1 1998 1998
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.070 1.000 7 2003 2016
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.710 0.500 2 2005 2016
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs747342068
rs747342068
TP53
21 0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 0.710 1.000 2 2008 2016
dbSNP: rs1060501205
rs1060501205
TP53
5 0.827 0.120 17 7673749 missense variant TG/GT mnv 0.010 1.000 1 2008 2008
dbSNP: rs121912667
rs121912667
TP53
4 0.851 0.200 17 7673766 missense variant T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs375338359
rs375338359
TP53
4 0.882 0.200 17 7670684 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs587782529
rs587782529
TP53
8 0.851 0.200 17 7670700 missense variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs730882029
rs730882029
TP53
4 0.882 0.200 17 7670685 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs751477326
rs751477326
TP53
3 1.000 0.080 17 7675082 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs63749993
rs63749993
MSH2
8 0.882 0.200 2 47476424 missense variant T/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs763868966
rs763868966
GFAP
4 1.000 0.080 17 44911429 stop gained C/A;G;T snv 1.2E-05; 4.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs1057519747
rs1057519747
TP53
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519902
rs1057519902
H3-3A
16 0.742 0.160 1 226064451 missense variant G/C 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: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 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: rs1057520003
rs1057520003
TP53
20 0.695 0.320 17 7675996 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs11554273
rs11554273
GNAS
22 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
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: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016