Gene: BRIP1 ×
Source: CURATED ×
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: rs137852985
rs137852985
BRIP1
1 1.000 0.080 17 61808488 missense variant C/T snv 0.700 1.000 7 2001 2014
dbSNP: rs587780833
rs587780833
BRIP1
3 0.925 0.200 17 61847100 splice donor variant C/T snv 0.700 1.000 5 2005 2016
dbSNP: rs786203700
rs786203700
BRIP1
4 0.882 0.280 17 61857233 splice acceptor variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 4 2005 2016
dbSNP: rs1555607022
rs1555607022
BRIP1
3 0.925 0.200 17 61799099 splice donor variant C/T snv 0.700 1.000 3 2005 2011
dbSNP: rs1555607628
rs1555607628
BRIP1
3 0.925 0.200 17 61801252 splice donor variant C/T snv 0.700 1.000 3 2005 2011
dbSNP: rs587782047
rs587782047
BRIP1
3 0.925 0.200 17 61861446 splice donor variant C/A;T snv 0.700 1.000 3 2005 2011
dbSNP: rs786203451
rs786203451
BRIP1
3 0.925 0.200 17 61693513 splice acceptor variant C/G;T snv 4.0E-06 0.700 1.000 3 2005 2011
dbSNP: rs876659707
rs876659707
BRIP1
3 0.925 0.200 17 61847222 splice acceptor variant T/A snv 0.700 1.000 3 2005 2011
dbSNP: rs876660203
rs876660203
BRIP1
4 0.882 0.280 17 61685835 splice donor variant C/T snv 0.700 1.000 3 2005 2011
dbSNP: rs1060501774
rs1060501774
BRIP1
2 0.925 0.200 17 61683718 stop gained C/A snv 0.700 1.000 2 2010 2011
dbSNP: rs1420431000
rs1420431000
BRIP1
2 0.925 0.200 17 61683816 stop gained A/C snv 7.0E-06 0.700 1.000 2 2010 2011
dbSNP: rs1555572698
rs1555572698
BRIP1
2 0.925 0.200 17 61683736 stop gained C/A snv 0.700 1.000 2 2010 2011
dbSNP: rs368796923
rs368796923
BRIP1
4 0.882 0.280 17 61799200 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 2 2017 2018
dbSNP: rs587780228
rs587780228
BRIP1
4 0.882 0.280 17 61793698 stop gained C/A;G snv 4.0E-06 2.8E-05 0.700 1.000 2 2016 2017
dbSNP: rs775171520
rs775171520
BRIP1
4 0.882 0.280 17 61793727 stop gained C/A;T snv 2.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057517643
rs1057517643
BRIP1
3 0.882 0.280 17 61744578 stop gained A/T snv 0.700 0
dbSNP: rs1060501739
rs1060501739
BRIP1
2 0.925 0.200 17 61784403 stop gained G/A snv 0.700 0
dbSNP: rs1060501740
rs1060501740
BRIP1
2 0.925 0.200 17 61857167 stop gained G/T snv 1.2E-05 0.700 0
dbSNP: rs1060501757
rs1060501757
BRIP1
2 0.925 0.200 17 61781006 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1060501763
rs1060501763
BRIP1
2 0.925 0.200 17 61859794 splice donor variant A/C snv 0.700 0
dbSNP: rs1060501765
rs1060501765
BRIP1
2 0.925 0.200 17 61847214 stop gained T/A;C snv 0.700 0
dbSNP: rs1060501766
rs1060501766
BRIP1
2 0.925 0.200 17 61686136 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1304655615
rs1304655615
BRIP1
2 0.925 0.200 17 61799278 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs137852986
rs137852986
BRIP1
9 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.710 < 0.001 0 2016 2016
dbSNP: rs1436085018
rs1436085018
BRIP1
2 0.925 0.200 17 61801454 stop gained A/C snv 4.0E-06 0.700 0