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: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs751409106
rs751409106
LIG4
1 1.000 0.080 13 108209596 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs80358683
rs80358683
BRCA2
5 0.851 0.120 13 32338880 stop gained C/T snv 0.700 0
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 0.959 387 2003 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.956 367 2003 2019
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.070 0.857 7 2004 2019
dbSNP: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.020 1.000 2 2004 2005
dbSNP: rs377767394
rs377767394
RET
2 0.925 0.080 10 43113603 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs75996173
rs75996173
RET
21 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs864622088
rs864622088
PTCH1
2 0.925 0.080 9 95459774 missense variant G/T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.030 1.000 3 2005 2015
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.020 1.000 2 2006 2011
dbSNP: rs782237788
rs782237788
NCOA4
2 1.000 0.080 10 46009499 missense variant T/C snv 4.0E-06 0.020 1.000 2 2007 2012
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2007 2007
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 0.040 0.750 4 2008 2018
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.020 1.000 2 2008 2016
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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2009 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2009 2016
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.030 1.000 3 2009 2016
dbSNP: rs79658334
rs79658334
RET
29 0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 0.030 1.000 3 2009 2012
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 1.000 3 2009 2016
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 0.500 2 2009 2011