Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 1
rs1553622530
BARD1
2 214781220 stop gained C/T snv 1
rs1131692162
BRCA1
17 43099781 stop gained C/A snv 1
rs1555582520
BRCA1
17 43076486 splice donor variant A/G snv 1
rs397508979
BRCA1
17 43092974 frameshift variant -/GAAAAGTGAA ins 1
rs886037788
BRCA1
17 43091461 frameshift variant -/TCAA ins 1
rs886037789
BRCA1
17 43071159 frameshift variant T/- del 1
rs1555280073
BRCA2
13 32316454 start lost TAAAAATGCCTATTGG/- delins 1
rs1555284442
BRCA2
13 32340234 frameshift variant G/- del 1
rs398122710
BRCA2
13 32371100 missense variant G/A snv 1
rs886037797
BRCA2
13 32332667 frameshift variant AACTAACC/- delins 1
rs1057519825
BTK
0.882 0.120 X 101356176 missense variant C/G snv 1
rs1057519826
BTK
0.882 0.120 X 101356177 missense variant A/T snv 1
rs1555114766
C11orf65 ; ATM
11 108317486 stop gained G/A snv 1
rs1213469537
CAV1
0.882 0.080 7 116559145 missense variant C/T snv 4.0E-06 1.4E-05 1
rs1555913881
CHEK2
22 28695841 frameshift variant T/- del 1
rs587780170
CHEK2
0.851 0.120 22 28695786 missense variant C/A;G;T snv 2.8E-05; 8.0E-06 1
rs786202676
CHEK2
22 28696956 missense variant T/A;G snv 1
rs1215280530
CTCF
16 67616822 missense variant A/G snv 1
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 1
rs1131692241
ERBB2
17 39723966 inframe deletion TGAGGGAAAACACAT/- delins 1
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 1
rs1057519857
ERBB2 ; MIR4728
0.882 0.080 17 39724772 missense variant T/C snv 1
rs758222990
ERBB2 ; MIR4728
1.000 0.080 17 39725363 missense variant C/G;T snv 1.2E-05 1
rs1057519714
ESR1
6 152094402 missense variant T/C snv 1