Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 2
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs1799724
LTA ; TNF
0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 2
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 1
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 1
rs4950928
CHI3L1
0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 1
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 1
rs587779157
MSH2
0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 6
rs587776547
C11orf65 ; ATM
0.882 0.320 11 108331885 inframe deletion TAGAATTTC/- delins 2.8E-05 1.4E-05 4
rs587782008
CHEK2
0.925 0.200 22 28725084 inframe deletion TCT/- delins 1.6E-05 3
rs80357064
BRCA1
0.882 0.200 17 43106478 stop lost A/C;G snv 1.2E-05 3
rs80357475
BRCA1 ; NBR2
0.827 0.200 17 43124094 start lost C/A;G;T snv 6
rs80358547
BRCA2
0.851 0.200 13 32316462 start lost T/A;C;G snv 8.0E-06 3
rs1057517585
DCTN5 ; PALB2
1.000 0.080 16 23641155 start lost C/T snv 2
rs786203977
CHEK2
1.000 0.080 22 28734719 start lost C/A;T snv 4.1E-06 1
rs28897756
BRCA2
0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 11
rs1137887
ATM
0.925 0.280 11 108256340 splice region variant G/A snv 4.4E-05 2.8E-05 3
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 3
rs180177136
PALB2
1.000 0.080 16 23607860 splice region variant T/C;G snv 4.0E-06 2
rs587782849
CHEK2
1.000 0.080 22 28724974 splice region variant T/A snv 3.2E-05 1.4E-05 1
rs397507404
BRCA2
0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 10
rs80358189
BRCA1
0.827 0.200 17 43074522 splice acceptor variant C/A;G;T snv 1.2E-05 6
rs1800747
BRCA1
0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv 5
rs81002836
BRCA2
0.851 0.200 13 32362521 splice acceptor variant A/G;T snv 5
rs1555603638
BRIP1
0.882 0.280 17 61784425 splice acceptor variant C/T snv 4