Gene: BRCA1 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518639
rs1057518639
BRCA1
2 0.925 0.200 17 43070951 missense variant A/G snv 0.700 0
dbSNP: rs1057519558
rs1057519558
BRCA1
2 0.925 0.200 17 43082518 stop gained C/A;G;T snv 0.700 0
dbSNP: rs1060502327
rs1060502327
BRCA1
2 0.925 0.200 17 43099877 splice acceptor variant C/- delins 0.700 0
dbSNP: rs1060502332
rs1060502332
BRCA1
2 0.925 0.200 17 43093401 frameshift variant A/TT delins 0.700 0
dbSNP: rs1060502333
rs1060502333
BRCA1
3 0.882 0.200 17 43093322 frameshift variant T/- delins 0.700 0
dbSNP: rs1060502334
rs1060502334
BRCA1
2 0.925 0.200 17 43093258 stop gained A/T snv 0.700 0
dbSNP: rs1060502345
rs1060502345
BRCA1
2 0.925 0.200 17 43091465 frameshift variant GAT/A delins 0.700 0
dbSNP: rs1060502354
rs1060502354
BRCA1
2 0.925 0.200 17 43093214 frameshift variant GTACCAA/- del 0.700 0
dbSNP: rs1060502356
rs1060502356
BRCA1
2 0.925 0.200 17 43057046 splice donor variant ACCTTT/- delins 0.700 0
dbSNP: rs1060502360
rs1060502360
BRCA1
2 0.925 0.200 17 43094787 frameshift variant G/- delins 0.700 0
dbSNP: rs1060502362
rs1060502362
BRCA1
2 0.925 0.200 17 43099855 frameshift variant GTTGGACA/- delins 0.700 0
dbSNP: rs1060505048
rs1060505048
BRCA1
3 0.925 0.200 17 43045736 frameshift variant T/- del 0.700 0
dbSNP: rs1064792958
rs1064792958
BRCA1
2 0.925 0.200 17 43094724 frameshift variant CAAGTTTGAAAC/T delins 0.700 0
dbSNP: rs1064793054
rs1064793054
BRCA1
2 1.000 0.200 17 43104172 stop gained TGT/AGA mnv 0.700 0
dbSNP: rs1064793577
rs1064793577
BRCA1
3 0.925 0.200 17 43076580 frameshift variant A/- del 0.700 0
dbSNP: rs1135401829
rs1135401829
BRCA1
2 0.925 0.200 17 43063897 frameshift variant C/- delins 0.700 0
dbSNP: rs1135401836
rs1135401836
BRCA1
2 0.925 0.200 17 43104177 frameshift variant C/- delins 0.700 0
dbSNP: rs1135401837
rs1135401837
BRCA1
2 0.925 0.200 17 43094827 frameshift variant TTGTT/- delins 0.700 0
dbSNP: rs1135401838
rs1135401838
BRCA1
2 0.925 0.200 17 43094647 frameshift variant TCTTT/- del 0.700 0
dbSNP: rs1135401840
rs1135401840
BRCA1
1 1.000 0.200 17 43094447 frameshift variant -/T delins 0.700 0
dbSNP: rs1135401841
rs1135401841
BRCA1
2 0.925 0.200 17 43094396 frameshift variant TGCT/- del 0.700 0
dbSNP: rs1135401843
rs1135401843
BRCA1
1 1.000 0.200 17 43094209 frameshift variant -/T delins 0.700 0
dbSNP: rs1135401845
rs1135401845
BRCA1
2 0.925 0.200 17 43094139 frameshift variant -/C ins 0.700 0
dbSNP: rs1135401846
rs1135401846
BRCA1
2 0.925 0.200 17 43093885 frameshift variant GTAATATTC/T delins 0.700 0
dbSNP: rs1135401847
rs1135401847
BRCA1
1 1.000 0.200 17 43093805 frameshift variant -/C ins 0.700 0