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: rs1131691003
rs1131691003
TP53
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
12 0.752 0.360 17 7675052 splice donor variant C/T snv 0.700 0
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs121908698
rs121908698
CHEK2
7 0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 0.700 0
dbSNP: rs122445099
rs122445099
ATRX
6 0.827 0.400 X 77520832 stop gained G/A snv 0.700 0
dbSNP: rs137853008
rs137853008
CHEK2
1 1.000 0.040 22 28734673 missense variant C/A snv 0.800 0
dbSNP: rs137853011
rs137853011
CHEK2
16 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 0
dbSNP: rs137853294
rs137853294
RB1
6 0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 0.700 0
dbSNP: rs17883862
rs17883862
CHEK2
3 0.882 0.080 22 28734468 missense variant G/A;C;T snv 9.1E-04; 1.2E-05 0.700 0
dbSNP: rs200917541
rs200917541
CHEK2
5 0.851 0.200 22 28725270 stop gained G/A;T snv 0.700 0
dbSNP: rs28934573
rs28934573
TP53
28 0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs55832599
rs55832599
TP53
18 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
dbSNP: rs560596101
rs560596101
CHEK2
5 0.851 0.200 22 28725241 splice donor variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs587776783
rs587776783
RB1 ; LOC112268118
5 0.851 0.200 13 48373493 splice donor variant G/A snv 0.700 0
dbSNP: rs587781705
rs587781705
CHEK2
5 0.851 0.200 22 28734506 stop gained A/C snv 0.700 0
dbSNP: rs587782401
rs587782401
CHEK2
5 0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05 0.700 0
dbSNP: rs730881701
rs730881701
CHEK2
6 0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs763098116
rs763098116
TP53
3 0.925 0.040 17 7673790 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs863223301
rs863223301
TP53
2 0.925 0.080 17 7675130 frameshift variant -/CCATGGC delins 0.700 0
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.020 < 0.001 2 2014 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs1253660442
rs1253660442
SLC19A1
4 0.851 0.160 21 45531871 missense variant G/A;C snv 0.010 < 0.001 1 2017 2017
dbSNP: rs1332788424
rs1332788424
HLA-DOA
2 1.000 0.040 6 33009477 synonymous variant C/A;T snv 4.3E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 < 0.001 1 2018 2018