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: 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: rs1060501763
rs1060501763
BRIP1
2 0.925 0.200 17 61859794 splice donor variant A/C snv 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
dbSNP: rs878855145
rs878855145
BRIP1
2 0.925 0.200 17 61744551 stop gained A/C snv 0.700 0
dbSNP: rs587780875
rs587780875
BRIP1
2 0.925 0.200 17 61793687 stop gained A/C;G snv 4.0E-06; 1.2E-05 0.700 0
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: 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: 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: rs1057517643
rs1057517643
BRIP1
3 0.882 0.280 17 61744578 stop gained A/T snv 0.700 0
dbSNP: rs587778134
rs587778134
BRIP1
5 0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins 0.700 0
dbSNP: rs1295703239
rs1295703239
BRIP1
2 0.925 0.200 17 61685952 frameshift variant AGAT/-;AGATAGAT delins 7.0E-06 0.700 1.000 4 2008 2011
dbSNP: rs1555602127
rs1555602127
BRIP1
2 0.925 0.200 17 61780277 frameshift variant AT/- delins 0.700 0
dbSNP: rs587782726
rs587782726
BRIP1
2 1.000 0.080 17 61744449 frameshift variant ATTG/- delins 0.700 0
dbSNP: rs1292988272
rs1292988272
BRIP1
1 1.000 0.080 17 61857196 frameshift variant C/- del 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1057517648
rs1057517648
BRIP1
4 0.882 0.280 17 61859795 splice donor variant C/- delins 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: rs1567812616
rs1567812616
BRIP1
2 0.925 0.200 17 61780365 frameshift variant C/- del 0.700 0
dbSNP: rs1567816997
rs1567816997
BRIP1
2 0.925 0.200 17 61784361 frameshift variant C/- delins 0.700 0
dbSNP: rs1060501774
rs1060501774
BRIP1
2 0.925 0.200 17 61683718 stop gained C/A snv 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: rs1060501757
rs1060501757
BRIP1
2 0.925 0.200 17 61781006 splice acceptor variant C/A snv 0.700 0
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: rs1555605902
rs1555605902
BRIP1
3 0.925 0.200 17 61793656 stop gained C/A;G snv 0.700 0
dbSNP: rs786202760
rs786202760
BRIP1
3 0.925 0.200 17 61776557 stop gained C/A;G;T snv 4.0E-06 0.700 0
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