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: rs1555616176
rs1555616176
BRIP1
2 0.925 0.080 17 61849196 frameshift variant T/- del 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: rs137852986
rs137852986
BRIP1
13 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.010 < 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