Source: CLINVAR ×
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: rs104894097
rs104894097
CDKN2A
7 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.700 0
dbSNP: rs104894360
rs104894360
KRAS
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs1057517539
rs1057517539
PALB2
2 1.000 0.080 16 23629214 stop gained G/T snv 0.700 0
dbSNP: rs1057517563
rs1057517563
PALB2
1 1.000 0.080 16 23603595 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517585
rs1057517585
PALB2 ; DCTN5
2 1.000 0.080 16 23641155 start lost C/T snv 0.700 0
dbSNP: rs1057517596
rs1057517596
CHEK2
1 1.000 0.080 22 28699937 splice acceptor variant C/- delins 0.700 0
dbSNP: rs1057517600
rs1057517600
PALB2
2 1.000 0.080 16 23607958 frameshift variant G/- del 0.700 0
dbSNP: rs1057517643
rs1057517643
BRIP1
3 0.882 0.280 17 61744578 stop gained A/T snv 0.700 0
dbSNP: rs1057517648
rs1057517648
BRIP1
4 0.882 0.280 17 61859795 splice donor variant C/- delins 0.700 0
dbSNP: rs1060499814
rs1060499814
PALB2
2 1.000 0.080 16 23638069 splice donor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1060499819
rs1060499819
PALB2
2 1.000 0.080 16 23630062 frameshift variant G/- delins 7.0E-06 0.700 0
dbSNP: rs1060499827
rs1060499827
PALB2
2 1.000 0.080 16 23608014 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1060501287
rs1060501287
BARD1
1 1.000 0.080 2 214769302 frameshift variant G/- delins 0.700 0
dbSNP: rs1060501291
rs1060501291
BARD1
1 1.000 0.080 2 214780940 stop gained T/A;G snv 0.700 0
dbSNP: rs1060501310
rs1060501310
BARD1
1 1.000 0.080 2 214752446 splice donor variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1060501739
rs1060501739
BRIP1
2 0.925 0.200 17 61784403 stop gained G/A snv 0.700 0
dbSNP: rs1060501740
rs1060501740
BRIP1
2 0.925 0.200 17 61857167 stop gained G/T snv 1.2E-05 0.700 0
dbSNP: rs1060501757
rs1060501757
BRIP1
2 0.925 0.200 17 61781006 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1060501763
rs1060501763
BRIP1
2 0.925 0.200 17 61859794 splice donor variant A/C snv 0.700 0
dbSNP: rs1060501765
rs1060501765
BRIP1
2 0.925 0.200 17 61847214 stop gained T/A;C snv 0.700 0
dbSNP: rs1060501766
rs1060501766
BRIP1
2 0.925 0.200 17 61686136 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1060501772
rs1060501772
BRIP1
1 1.000 0.080 17 61776412 frameshift variant -/C delins 0.700 0
dbSNP: rs1060501778
rs1060501778
BRIP1
2 0.925 0.200 17 61847180 frameshift variant A/- delins 0.700 0
dbSNP: rs1060501779
rs1060501779
BRIP1
2 0.925 0.200 17 61808753 splice acceptor variant G/-;GG delins 0.700 0
dbSNP: rs1060502687
rs1060502687
CHEK2
1 1.000 0.080 22 28711917 frameshift variant TT/- del 0.700 0