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: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 19 2001 2017
dbSNP: rs28897756
rs28897756
BRCA2
11 0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 0.700 1.000 41 1997 2017
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 1.000 32 2001 2016
dbSNP: rs80359013
rs80359013
BRCA2
4 0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06 0.700 1.000 31 2002 2018
dbSNP: rs28934575
rs28934575
TP53
37 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 30 1990 2017
dbSNP: rs28897759
rs28897759
BRCA2
5 0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 27 2000 2016
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 1.000 26 2004 2018
dbSNP: rs138213197
rs138213197
HOXB13
24 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.700 1.000 26 1996 2017
dbSNP: rs28897743
rs28897743
BRCA2
8 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 26 1997 2018
dbSNP: rs80356959
rs80356959
BRCA1
5 0.851 0.200 17 43045761 missense variant A/C;G snv 0.700 1.000 24 1996 2017
dbSNP: rs63750217
rs63750217
MLH1
10 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 1.000 23 1996 2017
dbSNP: rs80357522
rs80357522
BRCA1
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 1.000 23 1995 2017
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
7 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 1.000 23 1995 2017
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 22 1987 2016
dbSNP: rs41293511
rs41293511
BRCA2
10 0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 0.700 1.000 22 2001 2018
dbSNP: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 21 1998 2017
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.700 1.000 21 1996 2016
dbSNP: rs28940298
rs28940298
VHL
9 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.700 1.000 21 1996 2016
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 1.000 21 1999 2017
dbSNP: rs587779075
rs587779075
MSH2
5 0.882 0.200 2 47429830 stop gained C/T snv 0.700 1.000 21 2001 2016
dbSNP: rs80356860
rs80356860
BRCA1
4 0.882 0.200 17 43063909 missense variant C/G;T snv 4.8E-05 0.700 1.000 21 2000 2016
dbSNP: rs80357662
rs80357662
BRCA1
3 0.925 0.200 17 43093975 frameshift variant T/- delins 0.700 1.000 21 1996 2016
dbSNP: rs80359306
rs80359306
BRCA2
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 1.000 21 1996 2017
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
3 0.925 0.080 17 17216395 frameshift variant G/-;GG delins 0.700 1.000 20 2002 2019
dbSNP: rs80357509
rs80357509
BRCA1
4 0.882 0.200 17 43092046 frameshift variant T/- del 4.0E-06 7.0E-06 0.700 1.000 20 1997 2017