Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1135401927
BRCA2
0.882 0.200 13 32376691 frameshift variant -/A delins 4
rs587780236
BRIP1
0.882 0.280 17 61743118 frameshift variant -/A delins 8.0E-06 7.0E-06 4
rs748219743
UGT1A7 ; UGT1A1 ; UGT1A9 ; UGT1A6 ; UGT1A4 ; UGT1A3 ; UGT1A5 ; UGT1A10 ; UGT1A8
1.000 0.080 2 233760634 frameshift variant -/A delins 4
rs879255076
LDLR
0.925 0.080 19 11120176 frameshift variant -/A delins 4
rs879254933
MIR6886 ; LDLR
0.882 0.160 19 11113708 frameshift variant -/A delins 4
rs72664216
ABCC6
1.000 0.160 16 16203469 frameshift variant -/A delins 4
rs886041185
VPS13B
0.925 0.320 8 99835295 frameshift variant -/A delins 4
rs80359773
BRCA2
0.882 0.280 13 32398184 frameshift variant -/A delins 4
rs1060503764
SDHB
0.925 0.080 1 17022655 frameshift variant -/A delins 4
rs80359328
BRCA2
0.882 0.240 13 32336684 frameshift variant -/A delins 4
rs1555269488
GNPTAB
0.882 0.200 12 101764241 frameshift variant -/A delins 4
rs543698823
PROM1
0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04 4
rs61750415
PEX1
0.882 0.360 7 92503169 frameshift variant -/A delins 5.0E-04 5.1E-04 4
rs1555392032
SPRED1
1.000 15 38339805 frameshift variant -/A delins 3
rs1553212626
POGZ
1.000 1 151406151 frameshift variant -/A delins 3
rs1462161137
METTL23
1.000 17 76733042 frameshift variant -/A delins 7.0E-06 3
rs587781299
ATM ; C11orf65
0.925 0.280 11 108327665 frameshift variant -/A delins 3
rs1555144459
PKP2
0.925 0.120 12 32841038 frameshift variant -/A delins 3
rs775537066
BRIP1
0.925 0.200 17 61776487 frameshift variant -/A delins 8.0E-06 2.1E-05 3
rs752780954
BRIP1
0.925 0.200 17 61686008 frameshift variant -/A delins 4.8E-05 1.4E-05 3
rs587781554
MLH1
1.000 0.160 3 37020395 frameshift variant -/A delins 3
rs267608156
PMS2
1.000 0.160 7 5989867 frameshift variant -/A delins 3
rs63750149
MSH2
1.000 0.160 2 47478395 frameshift variant -/A delins 3
rs267608118
MSH6 ; FBXO11
1.000 0.160 2 47806453 frameshift variant -/A delins 3
rs587780670
FBXO11 ; MSH6
1.000 0.160 2 47799772 frameshift variant -/A delins 3