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: rs148960463
rs148960463
POLK
1 1.000 0.080 5 75547107 missense variant G/A snv 2.1E-03 1.4E-03 0.700 0
dbSNP: rs1554059550
rs1554059550
POLK
1 1.000 0.080 5 75573793 missense variant T/C snv 0.700 0
dbSNP: rs1554059573
rs1554059573
POLK
1 1.000 0.080 5 75573841 missense variant T/C snv 0.700 0
dbSNP: rs1554062741
rs1554062741
POLK
1 1.000 0.080 5 75590373 missense variant A/G snv 0.700 0
dbSNP: rs1554062789
rs1554062789
POLK
1 1.000 0.080 5 75590408 missense variant C/T snv 0.700 0
dbSNP: rs1554062804
rs1554062804
POLK
1 1.000 0.080 5 75590425 synonymous variant G/A snv 0.700 0
dbSNP: rs1554063600
rs1554063600
POLK
1 1.000 0.080 5 75593902 stop lost A/G snv 0.700 0
dbSNP: rs1554063656
rs1554063656
POLK
1 1.000 0.080 5 75593981 missense variant T/C snv 0.700 0
dbSNP: rs1554064175
rs1554064175
POLK
1 1.000 0.080 5 75596345 missense variant A/T snv 0.700 0
dbSNP: rs1554064740
rs1554064740
POLK
1 1.000 0.080 5 75598003 missense variant T/G snv 0.700 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: rs193920894
rs193920894
SPOP ; LOC107984999
2 0.925 0.080 17 49619281 missense variant A/C snv 0.700 0
dbSNP: rs200917541
rs200917541
CHEK2
5 0.851 0.200 22 28725270 stop gained G/A;T snv 0.700 0
dbSNP: rs201754821
rs201754821
EPHB2
1 1.000 0.080 1 22784861 missense variant G/A snv 8.8E-05 3.5E-05 0.700 0
dbSNP: rs28897756
rs28897756
BRCA2
11 0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
13 0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05 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: rs35882952
rs35882952
EPHB2 ; MIR4253
1 1.000 0.080 1 22863060 missense variant G/C;T snv 4.0E-06; 1.1E-03 0.700 0
dbSNP: rs370795352
rs370795352
PTEN
13 0.742 0.360 10 87933163 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs372653137
rs372653137
EPHB2
1 1.000 0.080 1 22910526 missense variant A/G snv 4.0E-05 1.8E-04 0.700 0
dbSNP: rs387906417
rs387906417
MXI1
1 1.000 0.080 10 110279296 splice donor variant T/C snv 0.700 0
dbSNP: rs397507327
rs397507327
BRCA2
9 0.776 0.280 13 32338598 stop gained G/A;T snv 4.1E-06 0.700 0
dbSNP: rs397507404
rs397507404
BRCA2
10 0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs397508045
rs397508045
BRCA2
9 0.763 0.320 13 32319101 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs41293497
rs41293497
BRCA2
14 0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 0.700 0