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: rs121434629
rs121434629
PMS2
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 0
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs121913478
rs121913478
FGFR2
17 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
dbSNP: rs137853007
rs137853007
CHEK2
9 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.700 0
dbSNP: rs1431264077
rs1431264077
MLH3
2 0.925 0.200 14 75048771 frameshift variant C/- delins 4.0E-06 0.700 0
dbSNP: rs1553826166
rs1553826166
PIK3CA
1 1.000 0.080 3 179234231 missense variant C/G snv 0.700 0
dbSNP: rs1564568660
rs1564568660
PTEN
1 1.000 0.080 10 87961101 frameshift variant T/- delins 0.700 0
dbSNP: rs267608059
rs267608059
MSH6 ; FBXO11
5 0.882 0.240 2 47801050 stop gained G/T snv 0.700 0
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.700 0
dbSNP: rs36053993
rs36053993
MUTYH
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 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: rs587776650
rs587776650
NBN
11 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
dbSNP: rs587776667
rs587776667
PTEN
14 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 0
dbSNP: rs587776701
rs587776701
MSH3
2 0.925 0.080 5 80675096 frameshift variant A/-;AA delins 2.1E-05 0.700 0
dbSNP: rs587782798
rs587782798
CDH1
7 0.807 0.400 16 68813322 stop gained C/T snv 0.700 0
dbSNP: rs63749843
rs63749843
MSH6 ; FBXO11
7 0.827 0.240 2 47803449 stop gained C/A;G;T snv 0.700 0
dbSNP: rs63749889
rs63749889
MSH6 ; FBXO11
2 0.925 0.120 2 47800685 missense variant G/A snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs63749999
rs63749999
MSH6 ; FBXO11
6 0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs63750086
rs63750086
MSH2
5 0.882 0.200 2 47429891 frameshift variant AG/- del 0.700 0
dbSNP: rs63751017
rs63751017
MSH6 ; FBXO11
6 0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 0.700 0
dbSNP: rs786201042
rs786201042
MSH6
7 0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 0.700 0
dbSNP: rs786204931
rs786204931
PTEN
3 0.925 0.120 10 87933126 missense variant C/G;T snv 0.700 0
dbSNP: rs80357929
rs80357929
BRCA1
4 0.851 0.200 17 43092663 frameshift variant A/- del 0.700 0
dbSNP: rs80359306
rs80359306
BRCA2
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 0