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: rs79658334
rs79658334
RET
29 0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 0.010 1.000 1 2006 2006
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.020 1.000 2 2005 2007
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs2145418
rs2145418 		3 0.882 0.080 1 118422631 intergenic variant C/A snv 0.78 0.010 1.000 1 2008 2008
dbSNP: rs4658973
rs4658973
WDR3 ; SPAG17
3 0.882 0.080 1 117956431 intron variant T/G snv 0.34 0.010 1.000 1 2008 2008
dbSNP: rs4987206
rs4987206
RAD52
4 0.851 0.080 12 916703 missense variant G/C snv 2.4E-03 9.6E-03 0.010 1.000 1 2008 2008
dbSNP: rs768891111
rs768891111
KLC1 ; XRCC3
4 0.851 0.080 14 103699474 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs1169803481
rs1169803481
EGFR
7 0.807 0.160 7 55198851 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs145475805
rs145475805
TG
4 0.882 0.080 8 132887509 missense variant A/G snv 8.8E-05 3.3E-04 0.010 1.000 1 2009 2009
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs147394161
rs147394161
RAP1GAP
2 0.925 0.120 1 21598453 missense variant T/C snv 9.5E-03 1.0E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs183334241
rs183334241
TSHZ1
2 0.925 0.080 18 75288186 missense variant G/A;C snv 1.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs377767414
rs377767414
RET
2 0.925 0.080 10 43118397 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs377767427
rs377767427
RET
3 0.882 0.120 10 43120114 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs78081605
rs78081605
TSHZ1
2 0.925 0.080 18 75288051 missense variant G/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs776935407
rs776935407
SGSM3
6 0.851 0.080 22 40409261 missense variant T/A snv 4.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs77709286
rs77709286
RET
12 0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06 0.700 1.000 4 2010 2012
dbSNP: rs17849071
rs17849071
PIK3CA
8 0.776 0.160 3 179218439 intron variant T/G snv 7.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2012 2012
dbSNP: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2012 2012
dbSNP: rs75234356
rs75234356
RET
14 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.700 1.000 4 2007 2013
dbSNP: rs121913238
rs121913238
KRAS
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.700 1.000 4 2007 2013