Source: CURATED ×
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: rs113488022
rs113488022
BRAF
22 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 0.947 1 2003 2020
dbSNP: rs121913279
rs121913279
PIK3CA
48 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.800 0.909 1 2006 2019
dbSNP: rs28934578
rs28934578
TP53
16 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.780 0.909 3 2000 2019
dbSNP: rs121913364
rs121913364
BRAF
14 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.780 0.778 1 2004 2019
dbSNP: rs28934576
rs28934576
TP53
39 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.780 1.000 1 1995 2020
dbSNP: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.770 1.000 2 2012 2020
dbSNP: rs121912651
rs121912651
TP53
37 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.760 0.857 1 1999 2019
dbSNP: rs28934575
rs28934575
TP53
25 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.740 1.000 2 2006 2018
dbSNP: rs121434596
rs121434596
NRAS
14 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.740 1.000 1 2014 2016
dbSNP: rs121913355
rs121913355
BRAF
34 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.730 0.800 2 2004 2015
dbSNP: rs121913495
rs121913495
GNAS
15 0.672 0.400 20 58909366 missense variant G/A;T snv 0.730 0.800 2 2010 2014
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
21 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.730 1.000 1 2014 2017
dbSNP: rs34589476
rs34589476
MET
1 0.827 0.160 7 116771869 missense variant C/T snv 2.9E-03 3.2E-03 0.730 1.000 1 2003 2014
dbSNP: rs104893829
rs104893829
VHL
2 0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 0.720 1.000 1 2013 2017
dbSNP: rs121913348
rs121913348
BRAF
16 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.720 1.000 1 2004 2016
dbSNP: rs56391007
rs56391007
MET
2 0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 0.720 1.000 1 2003 2015
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
30 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.710 1.000 1 2014 2014
dbSNP: rs1057519816
rs1057519816
ERBB2
10 0.763 0.200 17 39711955 missense variant C/A;T snv 0.710 1.000 1 2012 2014
dbSNP: rs1057519824
rs1057519824
MET
2 0.807 0.120 7 116783374 missense variant T/G snv 0.710 1.000 1 2003 2007
dbSNP: rs1057519837
rs1057519837
CTNNB1
2 1.000 0.040 3 41224631 missense variant C/G;T snv 0.710 1.000 1 2011 2014
dbSNP: rs1057519855
rs1057519855
HRAS ; LRRC56
1 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.710 1.000 1 2014 2014
dbSNP: rs121913246
rs121913246
MET
5 0.827 0.200 7 116783360 missense variant A/G snv 0.710 1.000 1 2007 2017
dbSNP: rs121913343
rs121913343
TP53
29 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.710 1.000 1 2014 2014
dbSNP: rs121913496
rs121913496
HRAS ; LRRC56
11 0.724 0.440 11 533873 missense variant C/A;G;T snv 0.710 1.000 1 2010 2014
dbSNP: rs28933369
rs28933369
ERBB2 ; MIR4728
4 0.925 0.080 17 39724744 missense variant G/A snv 0.710 1.000 1 2011 2014