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 0.700 1.000 10 2005 2015
dbSNP: rs149364097
rs149364097
BRIP1
3 0.925 0.120 17 61801348 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 10 2005 2016
dbSNP: rs752309409
rs752309409
BRIP1
1 17 61808634 missense variant G/A snv 1.2E-05 3.5E-05 0.700 1.000 7 2010 2016
dbSNP: rs574552037
rs574552037
BRIP1
2 1.000 0.120 17 61716043 stop gained G/A;C snv 3.3E-04; 2.4E-05; 4.0E-06 0.700 1.000 6 2005 2017
dbSNP: rs587780240
rs587780240
BRIP1
2 1.000 0.120 17 61715948 splice donor variant -/A delins 1.6E-05 2.8E-05 0.700 1.000 5 2004 2016
dbSNP: rs730881645
rs730881645
BRIP1
4 0.882 0.280 17 61683850 frameshift variant A/- del 2.0E-05 5.6E-05 0.700 1.000 4 2010 2015
dbSNP: rs786202927
rs786202927
BRIP1
1 17 61683814 stop gained T/A snv 0.700 1.000 4 2010 2012
dbSNP: rs1057519365
rs1057519365
BRIP1
5 0.851 0.320 17 61780931 frameshift variant TT/- delins 0.700 1.000 3 2011 2016
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 3 2016 2017
dbSNP: rs587781321
rs587781321
BRIP1
4 0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05 0.700 1.000 3 2014 2016
dbSNP: rs786203384
rs786203384
BRIP1
2 1.000 0.120 17 61744581 frameshift variant T/GGA delins 0.700 1.000 3 2006 2015
dbSNP: rs587778134
rs587778134
BRIP1
5 0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins 0.700 1.000 2 2015 2015
dbSNP: rs587780236
rs587780236
BRIP1
4 0.882 0.280 17 61743118 frameshift variant -/A delins 8.0E-06 7.0E-06 0.700 1.000 2 2016 2016
dbSNP: rs587781416
rs587781416
BRIP1
2 1.000 0.120 17 61849241 frameshift variant -/T delins 8.0E-06; 4.0E-06 7.0E-06 0.700 1.000 2 2015 2016
dbSNP: rs587782065
rs587782065
BRIP1
2 1.000 0.120 17 61859860 frameshift variant G/- delins 7.0E-06 0.700 1.000 2 2006 2010
dbSNP: rs587782410
rs587782410
BRIP1
4 0.882 0.280 17 61685976 stop gained A/C snv 1.2E-05 1.4E-05 0.700 1.000 2 2015 2015
dbSNP: rs730881633
rs730881633
BRIP1
2 1.000 0.120 17 61801327 stop gained G/A;C snv 8.0E-06 0.700 1.000 2 2016 2017
dbSNP: rs730881649
rs730881649
BRIP1
4 0.882 0.280 17 61744433 frameshift variant TT/- delins 1.2E-05 3.5E-05 0.700 1.000 2 2005 2016
dbSNP: rs753683450
rs753683450
BRIP1
1 17 61683605 frameshift variant -/T delins 8.0E-05 4.2E-05 0.700 1.000 2 2010 2012
dbSNP: rs771028677
rs771028677
BRIP1
4 0.882 0.280 17 61684053 frameshift variant TGTT/-;TGTTTGTT delins 2.1E-05 0.700 1.000 2 2008 2015
dbSNP: rs775537066
rs775537066
BRIP1
3 0.925 0.200 17 61776487 frameshift variant -/A delins 8.0E-06 2.1E-05 0.700 1.000 2 2006 2011
dbSNP: rs777367075
rs777367075
BRIP1
1 17 61683520 frameshift variant -/A delins 8.0E-06 7.0E-06 0.700 1.000 2 2010 2012
dbSNP: rs780020495
rs780020495
BRIP1
4 0.882 0.240 17 61780893 stop gained G/A snv 2.0E-05 0.700 1.000 2 2015 2016
dbSNP: rs786202610
rs786202610
BRIP1
3 0.925 0.240 17 61808495 frameshift variant T/- delins 0.700 1.000 2 2015 2016
dbSNP: rs786203717
rs786203717
BRIP1
3 0.925 0.240 17 61684051 frameshift variant CTTT/- delins 1.6E-05 2.8E-05 0.700 1.000 2 2008 2017