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: 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: rs1555616143
rs1555616143
BRIP1
4 0.882 0.280 17 61849155 frameshift variant TTCTT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1567878148
rs1567878148
BRIP1
2 0.925 0.200 17 61861484 frameshift variant -/A delins 0.700 1.000 1 2015 2015
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
dbSNP: rs1057517648
rs1057517648
BRIP1
4 0.882 0.280 17 61859795 splice donor variant C/- delins 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: rs1060501772
rs1060501772
BRIP1
1 1.000 0.080 17 61776412 frameshift variant -/C delins 0.700 0
dbSNP: rs1060501778
rs1060501778
BRIP1
2 0.925 0.200 17 61847180 frameshift variant A/- delins 0.700 0
dbSNP: rs1060501779
rs1060501779
BRIP1
2 0.925 0.200 17 61808753 splice acceptor variant G/-;GG delins 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: rs1339743866
rs1339743866
BRIP1
2 0.925 0.200 17 61784303 frameshift variant -/T delins 7.0E-06 0.700 0
dbSNP: rs1342519012
rs1342519012
BRIP1
1 1.000 0.080 17 61683974 frameshift variant C/- delins 8.0E-06 0.700 0
dbSNP: rs1436085018
rs1436085018
BRIP1
2 0.925 0.200 17 61801454 stop gained A/C snv 4.0E-06 0.700 0