Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs35628
ABCC1
1.000 0.080 16 16077249 intron variant A/G snv 0.13 1
rs3888565
ABCC1
1.000 0.080 16 16089188 intron variant G/A snv 0.25 1
rs4148353
ABCC1
1.000 0.080 16 16077291 intron variant G/A;T snv 1
rs875989854
ACADM
0.925 0.160 1 75734798 missense variant C/G;T snv 8.0E-06 1
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 1
rs203462
AKAP10
0.807 0.200 17 19909228 missense variant T/C snv 0.37 0.43 1
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv 1
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv 1
rs2229992
APC
0.827 0.200 5 112827157 stop gained T/C;G snv 0.58 0.47 1
rs137852576
AR
0.827 0.240 X 67686067 missense variant G/A snv 1
rs730881333
ATM
0.882 0.280 11 108243994 stop gained C/A;T snv 4.1E-06; 8.1E-06 1
rs56399857
ATM ; C11orf65
1.000 0.080 11 108330381 missense variant T/G snv 9.9E-05 1.8E-04 1
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 1
rs730882193
AXIN2
0.807 0.200 17 65536472 stop gained C/G;T snv 1
rs1060501287
BARD1
1.000 0.080 2 214769302 frameshift variant G/- delins 1
rs1060501291
BARD1
1.000 0.080 2 214780940 stop gained T/A;G snv 1
rs1060501310
BARD1
1.000 0.080 2 214752446 splice donor variant C/G;T snv 4.0E-06 1
rs1064792931
BARD1
1.000 0.080 2 214752490 frameshift variant AGCAGCAATAGCGATTTCATACTTTCATCATCTGT/CGC delins 1
rs1350570988
BARD1
1.000 0.080 2 214730473 stop gained G/A;C snv 4.0E-06 1
rs1364256214
BARD1
1.000 0.080 2 214780763 stop gained T/A snv 1
rs1405646805
BARD1
1.000 0.080 2 214767563 stop gained G/C snv 4.0E-06 1
rs1453894904
BARD1
1.000 0.080 2 214781258 stop gained G/A;T snv 1
rs1553612184
BARD1
1.000 0.080 2 214728911 frameshift variant C/- delins 1
rs1553612205
BARD1
1.000 0.080 2 214728931 frameshift variant -/T delins 1
rs1553612222
BARD1
1.000 0.080 2 214728968 frameshift variant CCCAC/- delins 1