Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1064794168
BRCA2
0.925 0.200 13 32338664 frameshift variant -/GT delins 2
rs1064794337
BRCA2
0.925 0.200 13 32338774 frameshift variant C/- del 3
rs1064794647
BRCA2
0.925 0.200 13 32340618 frameshift variant C/- del 3
rs1064794708
BRCA2
0.925 0.200 13 32339029 frameshift variant T/- delins 3
rs1064794812
BRCA2
0.925 0.200 13 32341014 frameshift variant A/- delins 2
rs1064794921
BRCA2
0.925 0.200 13 32338235 frameshift variant T/- delins 2
rs1064795500
BRCA2
0.925 0.200 13 32339650 frameshift variant TAAA/- delins 2
rs1131691016
TP53
0.925 0.240 17 7673699 splice donor variant A/C;T snv 3
rs1131692119
BRCA2
1.000 0.200 13 32338327 stop gained T/C;G snv 7.0E-06 1
rs1131692274
BRCA2
0.925 0.200 13 32333214 stop gained T/G snv 3
rs1135401829
BRCA1
0.925 0.200 17 43063897 frameshift variant C/- delins 2
rs1135401836
BRCA1
0.925 0.200 17 43104177 frameshift variant C/- delins 2
rs1135401837
BRCA1
0.925 0.200 17 43094827 frameshift variant TTGTT/- delins 2
rs1135401838
BRCA1
0.925 0.200 17 43094647 frameshift variant TCTTT/- del 2
rs1135401839
BRCA1
0.925 0.200 17 43094598 frameshift variant A/- del 2
rs1135401840
BRCA1
1.000 0.200 17 43094447 frameshift variant -/T delins 1
rs1135401841
BRCA1
0.925 0.200 17 43094396 frameshift variant TGCT/- del 2
rs1135401843
BRCA1
1.000 0.200 17 43094209 frameshift variant -/T delins 1
rs1135401845
BRCA1
0.925 0.200 17 43094139 frameshift variant -/C ins 2
rs1135401846
BRCA1
0.925 0.200 17 43093885 frameshift variant GTAATATTC/T delins 2
rs1135401847
BRCA1
1.000 0.200 17 43093805 frameshift variant -/C ins 1
rs1135401848
BRCA1
0.925 0.200 17 43093751 frameshift variant T/- del 2
rs1135401849
BRCA1
0.925 0.200 17 43093563 frameshift variant GTTGTAC/- del 2
rs1135401850
BRCA1
0.925 0.200 17 43093493 stop gained T/A;C snv 2
rs1135401851
BRCA1
0.925 0.200 17 43093404 frameshift variant -/T ins 2