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: 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: rs140233356
rs140233356
BRIP1
2 0.925 0.240 17 61685911 stop gained G/A;C snv 4.0E-06; 2.8E-04 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: rs368796923
rs368796923
BRIP1
4 0.882 0.280 17 61799200 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs761639530
rs761639530
BRIP1
2 0.925 0.240 17 61685874 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs763009188
rs763009188
BRIP1
3 0.925 0.240 17 61857144 frameshift variant TTGT/- delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs768736851
rs768736851
BRIP1
3 0.925 0.240 17 61793641 frameshift variant TTAAG/- delins 4.1E-06 0.700 0
dbSNP: rs775735278
rs775735278
BRIP1
4 0.882 0.280 17 61784388 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs778664039
rs778664039
BRIP1
3 0.925 0.240 17 61683653 frameshift variant AGAT/- delins 3.6E-05 7.0E-06 0.700 0
dbSNP: rs780020495
rs780020495
BRIP1
4 0.882 0.240 17 61780893 stop gained G/A snv 2.0E-05 0.700 0
dbSNP: rs876660203
rs876660203
BRIP1
4 0.882 0.280 17 61685835 splice donor variant C/T snv 0.700 0
dbSNP: rs137852986
rs137852986
BRIP1
13 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 1.000 12 2005 2016
dbSNP: rs587781321
rs587781321
BRIP1
4 0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05 0.700 1.000 5 2014 2016
dbSNP: rs730881649
rs730881649
BRIP1
4 0.882 0.280 17 61744433 frameshift variant TT/- delins 1.2E-05 3.5E-05 0.700 1.000 5 2005 2016
dbSNP: rs587778134
rs587778134
BRIP1
5 0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins 0.700 1.000 4 2015 2016
dbSNP: rs587780226
rs587780226
BRIP1
4 0.882 0.280 17 61799125 stop gained G/A;T snv 1.2E-05 0.700 1.000 4 2016 2017