Source: CLINVAR ×
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: rs121434587
rs121434587
IGF2R
1 1.000 0.080 6 160069961 missense variant G/T snv 0.700 0
dbSNP: rs121434588
rs121434588
IGF2R
1 1.000 0.080 6 160070006 missense variant G/A snv 0.700 0
dbSNP: rs137854573
rs137854573
APC
8 0.807 0.120 5 112828889 stop gained C/T snv 0.700 0
dbSNP: rs137854575
rs137854575
APC
9 0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 0.700 0
dbSNP: rs145945630
rs145945630
APC
7 0.827 0.120 5 112754960 stop gained C/T snv 2.4E-05 0.700 0
dbSNP: rs1553631896
rs1553631896
CTNNB1
1 1.000 0.080 3 41233836 frameshift variant -/A delins 0.700 0
dbSNP: rs1554085355
rs1554085355
APC
5 0.851 0.120 5 112839461 stop gained T/A snv 0.700 0
dbSNP: rs397514032
rs397514032
APC
1 1.000 0.080 5 112828923 frameshift variant A/- delins 0.700 0
dbSNP: rs397515734
rs397515734
APC
7 0.827 0.120 5 112792494 stop gained C/T snv 0.700 0
dbSNP: rs55832599
rs55832599
TP53
13 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
dbSNP: rs587776627
rs587776627
AXIN1
1 1.000 0.080 16 309973 frameshift variant GGGAATGTGAGGTAGGGGCACCCGCCCATTGA/- del 0.700 0
dbSNP: rs587776665
rs587776665
CASP8
1 1.000 0.080 2 201285238 frameshift variant GT/- delins 0.700 0
dbSNP: rs587776802
rs587776802
PIK3CA
2 1.000 0.080 3 179234358 frameshift variant -/A delins 0.700 0
dbSNP: rs587781392
rs587781392
APC
7 0.827 0.120 5 112780895 stop gained C/G;T snv 0.700 0
dbSNP: rs62619935
rs62619935
APC
7 0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs775104326
rs775104326
CTNNB1
10 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs778624338
rs778624338
CTNNB1
2 1.000 0.080 3 41227270 stop gained C/A;T snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs786201856
rs786201856
APC
8 0.776 0.200 5 112815507 stop gained C/T snv 0.700 0
dbSNP: rs863225311
rs863225311
APC
7 0.827 0.120 5 112819347 splice region variant A/C;G snv 0.700 0
dbSNP: rs876660765
rs876660765
APC
6 0.851 0.120 5 112815594 splice donor variant G/A snv 0.700 0
dbSNP: rs28934578
rs28934578
TP53
16 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.710 < 0.001 0 2017 2017
dbSNP: rs375874539
rs375874539
TP53
11 0.732 0.320 17 7674237 missense variant G/A;C snv 0.710 0.500 1 2009 2016
dbSNP: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 3 2004 2016