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: 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: rs4986764
rs4986764
BRIP1
8 0.827 0.120 17 61685986 missense variant A/G snv 0.60 0.61 0.040 0.750 4 2006 2018
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: rs11871753
rs11871753
BRIP1
4 0.851 0.120 17 61779284 intron variant A/G snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs137852986
rs137852986
BRIP1
13 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.710 < 0.001 1 2016 2016
dbSNP: rs16945628
rs16945628
BRIP1
4 0.851 0.120 17 61789868 intron variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs2048718
rs2048718
BRIP1
5 0.827 0.120 17 61863458 5 prime UTR variant C/T snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs4968451
rs4968451
BRIP1
13 0.732 0.160 17 61849946 intron variant A/C snv 0.15 0.010 1.000 1 2008 2008
dbSNP: rs4988349
rs4988349
BRIP1
2 0.925 0.080 17 61784279 missense variant T/A snv 3.6E-05 2.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs7220719
rs7220719
BRIP1
3 0.882 0.120 17 61736921 intron variant A/G snv 0.73 0.010 1.000 1 2018 2018
dbSNP: rs769797684
rs769797684
BRIP1
2 0.925 0.080 17 61744510 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
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