Gene: BRIP1 ×
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: rs587778134
rs587778134
BRIP1
5 0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins 0.700 1.000 4 2015 2016
dbSNP: rs771028677
rs771028677
BRIP1
4 0.882 0.280 17 61684053 frameshift variant TGTT/-;TGTTTGTT delins 2.1E-05 0.700 1.000 3 2008 2016
dbSNP: rs786202610
rs786202610
BRIP1
3 0.925 0.240 17 61808495 frameshift variant T/- delins 0.700 1.000 3 2015 2016
dbSNP: rs1057519365
rs1057519365
BRIP1
5 0.851 0.320 17 61780931 frameshift variant TT/- delins 0.700 1.000 2 2011 2016
dbSNP: rs1555616143
rs1555616143
BRIP1
4 0.882 0.280 17 61849155 frameshift variant TTCTT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1555618709
rs1555618709
BRIP1
3 0.925 0.240 17 61861461 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs2191249
rs2191249
BRIP1
3 0.882 0.120 17 61758503 intron variant T/G snv 0.79 0.010 1.000 1 2007 2007
dbSNP: rs34289250
rs34289250
BRIP1
2 0.925 0.120 17 61803285 intron variant T/C snv 7.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs864622277
rs864622277
BRIP1
3 0.925 0.240 17 61847221 splice acceptor variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs864622611
rs864622611
BRIP1
3 0.925 0.240 17 61744571 frameshift variant CTTTT/- delins 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs876659533
rs876659533
BRIP1
3 0.925 0.240 17 61776445 stop gained G/A snv 2.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs1057517643
rs1057517643
BRIP1
3 0.882 0.280 17 61744578 stop gained A/T snv 0.700 0
dbSNP: rs1057517648
rs1057517648
BRIP1
4 0.882 0.280 17 61859795 splice donor variant C/- delins 0.700 0
dbSNP: rs1064793887
rs1064793887
BRIP1
2 0.925 0.240 17 61743135 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555590388
rs1555590388
BRIP1
2 0.925 0.240 17 61743050 frameshift variant -/T delins 0.700 0
dbSNP: rs1555603635
rs1555603635
BRIP1
2 0.925 0.240 17 61784423 splice acceptor variant CTATAAGAAATTACC/- delins 0.700 0
dbSNP: rs1555603638
rs1555603638
BRIP1
4 0.882 0.280 17 61784425 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555605955
rs1555605955
BRIP1
2 0.925 0.240 17 61793710 stop gained C/A snv 0.700 0
dbSNP: rs1555607792
rs1555607792
BRIP1
2 0.925 0.240 17 61801458 frameshift variant AATA/- delins 0.700 0
dbSNP: rs1555609191
rs1555609191
BRIP1
4 0.882 0.280 17 61808545 frameshift variant A/- del 0.700 0
dbSNP: rs1555618727
rs1555618727
BRIP1
2 0.925 0.240 17 61861500 stop gained T/A snv 0.700 0
dbSNP: rs1567779336
rs1567779336
BRIP1
1 1.000 0.120 17 61743013 missense variant C/A snv 0.700 0
dbSNP: rs775735278
rs775735278
BRIP1
4 0.882 0.280 17 61784388 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs876660203
rs876660203
BRIP1
4 0.882 0.280 17 61685835 splice donor variant C/T snv 0.700 0
dbSNP: rs587781985
rs587781985
BRIP1
4 0.882 0.280 17 61780342 frameshift variant -/C ins 4.0E-06 0.700 1.000 1 2016 2016