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: rs1555138291
rs1555138291
ATM ; C11orf65
2 0.925 0.240 11 108345859 stop gained G/A snv 0.700 0
dbSNP: rs1558518449
rs1558518449
MSH2
1 1.000 0.040 2 47475221 frameshift variant ATGACGTA/- delins 0.700 0
dbSNP: rs1558650888
rs1558650888
DNMT3A
2 0.925 0.040 2 25234308 missense variant G/A snv 0.700 0
dbSNP: rs587782603
rs587782603
PTEN
2 1.000 0.040 10 87952118 stop gained G/A;T snv 0.700 0
dbSNP: rs63750250
rs63750250
PMS2
9 0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 0.700 0
dbSNP: rs786204929
rs786204929
PTEN
12 0.752 0.200 10 87933144 stop gained G/A;T snv 0.700 0
dbSNP: rs7732320
rs7732320
SSBP2
2 0.925 0.040 5 81423306 intron variant C/T snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs3851634
rs3851634
POLR3B
4 0.882 0.040 12 106419124 intron variant T/C snv 0.22 0.710 1.000 1 2015 2015
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519757
rs1057519757
PIK3R1
5 0.882 0.120 5 68293310 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
11 0.752 0.240 16 3738616 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519887
rs1057519887
EGFR
3 0.925 0.040 7 55154128 missense variant GC/AA;AT mnv 0.700 1.000 1 2016 2016
dbSNP: rs1057519888
rs1057519888
EGFR
3 0.925 0.080 7 55143386 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519897
rs1057519897
FGFR1
6 0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519913
rs1057519913
MTOR
3 0.925 0.120 1 11157172 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519914
rs1057519914
MTOR
5 0.851 0.240 1 11157174 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519917
rs1057519917
MTOR
7 0.807 0.160 1 11124517 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519919
rs1057519919
MYCN ; MYCNOS
5 0.851 0.160 2 15942195 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519925
rs1057519925
PIK3CA
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519926
rs1057519926
PIK3CA
10 0.776 0.200 3 179210293 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927
PIK3CA
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519929
rs1057519929
PIK3CA
10 0.776 0.320 3 179199066 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519932
rs1057519932
PIK3CA
22 0.683 0.320 3 179234298 missense variant T/G snv 0.700 1.000 1 2016 2016