Source: BEFREE ×
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: rs121913483
rs121913483
FGFR3
14 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.740 1.000 4 1999 2005
dbSNP: rs78311289
rs78311289
FGFR3
20 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.710 1.000 1 1999 2001
dbSNP: rs113488022
rs113488022
BRAF
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 23 2003 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 21 2003 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2010 2015
dbSNP: rs104886003
rs104886003
PIK3CA
43 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2008 2018
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.020 1.000 2 2014 2015
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.020 1.000 2 2014 2015
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.020 1.000 2 2014 2015
dbSNP: rs121913279
rs121913279
PIK3CA
62 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2011 2018
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 2003 2005
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.020 1.000 2 2012 2014
dbSNP: rs1801155
rs1801155
APC
36 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.020 1.000 2 2003 2005
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.020 1.000 2 2007 2010
dbSNP: rs1049074086
rs1049074086
CTSD
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1057519736
rs1057519736
IDH2
12 0.752 0.160 15 90088605 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519855
rs1057519855
HRAS ; LRRC56
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.010 1.000 1 2018 2018
dbSNP: rs1057519883
rs1057519883
CDKN2A
2 0.742 0.280 9 21971120 missense variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1057520039
rs1057520039
STK11
2 0.882 0.200 19 1207169 stop gained C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1060503115
rs1060503115
PMS2
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1131691014
rs1131691014
TP53
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2015 2015
dbSNP: rs121434265
rs121434265
CDC73 ; LOC101929160
2 0.925 0.080 1 193125142 stop gained C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013