Gene: BRCA1 ×
Source: ALL
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: rs1057518636
rs1057518636
BRCA1
3 1.000 17 43047646 frameshift variant -/A ins 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: rs1085307902
rs1085307902
BRCA1
2 1.000 17 43104187 stop gained G/A snv 0.700 0
dbSNP: rs111312760
rs111312760
BRCA1
1 17 43094369 stop gained T/A;C snv 0.700 0
dbSNP: rs1135401857
rs1135401857
BRCA1
3 0.925 0.200 17 43092469 frameshift variant C/- del 0.700 0
dbSNP: rs1135401868
rs1135401868
BRCA1
3 0.925 0.200 17 43091698 frameshift variant T/- delins 0.700 0
dbSNP: rs1432504119
rs1432504119
BRCA1
1 17 43092278 stop gained T/A;C snv 4.0E-06 0.700 0
dbSNP: rs1484076591
rs1484076591
BRCA1
1 17 43092448 frameshift variant C/- del 4.0E-06 0.700 0
dbSNP: rs1555575732
rs1555575732
BRCA1
1 17 43051098 frameshift variant -/T delins 0.700 0
dbSNP: rs1555576868
rs1555576868
BRCA1
1 17 43057079 frameshift variant C/- del 0.700 0
dbSNP: rs1555576921
rs1555576921
BRCA1
1 17 43057092 coding sequence variant -/GGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAA delins 0.700 0
dbSNP: rs1555578650
rs1555578650
BRCA1
1 17 43063946 frameshift variant C/- del 0.700 0
dbSNP: rs1555580601
rs1555580601
BRCA1
1 17 43070927 frameshift variant -/A delins 0.700 0
dbSNP: rs1555580773
rs1555580773
BRCA1
1 17 43071043 frameshift variant CAGCAGTATC/- delins 0.700 0
dbSNP: rs1555580840
rs1555580840
BRCA1
3 0.925 0.200 17 43071079 frameshift variant TG/- del 0.700 0
dbSNP: rs1555580854
rs1555580854
BRCA1
2 1.000 0.200 17 43071085 frameshift variant -/A delins 0.700 0
dbSNP: rs1555580912
rs1555580912
BRCA1
1 17 43071111 frameshift variant T/- delins 0.700 0
dbSNP: rs1555581017
rs1555581017
BRCA1
2 1.000 17 43071175 frameshift variant AGGA/- delins 0.700 0
dbSNP: rs1555581087
rs1555581087
BRCA1
1 17 43071220 stop gained TCCAGGT/C delins 0.700 0
dbSNP: rs1555582069
rs1555582069
BRCA1
1 17 43074501 frameshift variant G/- delins 0.700 0
dbSNP: rs1555582082
rs1555582082
BRCA1
1 17 43074520 frameshift variant A/- del 0.700 0
dbSNP: rs1555586879
rs1555586879
BRCA1
1 17 43091654 frameshift variant CAGAACAT/- del 0.700 0
dbSNP: rs1555587356
rs1555587356
BRCA1
1 17 43091887 frameshift variant CTTCT/- delins 0.700 0
dbSNP: rs1555587365
rs1555587365
BRCA1
2 1.000 17 43091894 frameshift variant C/- del 0.700 0