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: rs121909232
rs121909232
PTEN
9 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs121909233
rs121909233
PTEN ; KLLN
2 1.000 0.040 10 87864524 missense variant G/A snv 0.800 0
dbSNP: rs121909234
rs121909234
PTEN
1 1.000 0.040 10 87957867 missense variant G/A snv 0.800 0
dbSNP: rs121913323
rs121913323
STK11
2 1.000 0.040 19 1220416 stop gained C/T snv 0.700 0
dbSNP: rs137853080
rs137853080
STK11
2 1.000 0.040 19 1207058 missense variant T/G snv 0.800 0
dbSNP: rs137853081
rs137853081
STK11
2 1.000 0.040 19 1219352 missense variant G/C;T snv 0.800 0
dbSNP: rs180177132
rs180177132
PALB2
11 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.700 0
dbSNP: rs193922219
rs193922219
FBN1
9 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
dbSNP: rs200476704
rs200476704
KCNAB3 ; TRAPPC1 ; CNTROB
1 1.000 0.040 17 7930659 stop gained G/A;C snv 2.4E-05 0.700 0
dbSNP: rs36204594
rs36204594
CDKN2A
2 1.000 0.040 9 21971180 missense variant G/A;T snv 0.700 0
dbSNP: rs45580035
rs45580035
BRCA2
8 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 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: rs587779826
rs587779826
ATM
5 0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs80358683
rs80358683
BRCA2
5 0.851 0.120 13 32338880 stop gained C/T snv 0.700 0
dbSNP: rs80359204
rs80359204
BRCA2
1 1.000 0.040 13 32394741 missense variant A/G snv 0.700 0
dbSNP: rs869312757
rs869312757
BAP1
3 0.925 0.120 3 52405163 stop gained G/A;C snv 0.700 0
dbSNP: rs1554653960
rs1554653960
CDKN2A
2 0.925 0.040 9 21971007 missense variant C/T snv 0.010 1.000 1 1997 1997
dbSNP: rs34886500
rs34886500
CDKN2A
2 0.925 0.080 9 21971064 missense variant G/A;C snv 0.010 1.000 1 1997 1997
dbSNP: rs138106763
rs138106763
SLC12A9
2 1.000 0.040 7 100857102 missense variant A/G snv 7.2E-05 1.2E-04 0.010 1.000 1 1998 1998
dbSNP: rs866551255
rs866551255
CDKN1A
2 1.000 0.040 6 36684145 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs11552823
rs11552823
CDKN2A
1 1.000 0.040 9 21971117 missense variant G/A;C snv 4.3E-06 0.010 1.000 1 1999 1999
dbSNP: rs121913315
rs121913315
STK11
5 0.882 0.160 19 1220488 missense variant G/A;T snv 0.800 1.000 1 1999 1999
dbSNP: rs766310650
rs766310650
CDKN1A ; DINOL
3 1.000 0.040 6 36677906 5 prime UTR variant T/C snv 6.2E-05 2.1E-05 0.010 1.000 1 2001 2001
dbSNP: rs878853645
rs878853645
CDKN2A
1 1.000 0.040 9 21971176 missense variant C/G snv 0.010 1.000 1 2001 2001
dbSNP: rs1359132498
rs1359132498
UTS2R
1 1.000 0.040 17 82374361 missense variant G/A snv 0.010 1.000 1 2002 2002