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: rs756853672
rs756853672
BRIP1
2 0.925 0.200 17 61683645 frameshift variant G/- delins 1.2E-05 0.700 1.000 6 2005 2016
dbSNP: rs778664039
rs778664039
BRIP1
3 0.925 0.240 17 61683653 frameshift variant AGAT/- delins 3.6E-05 7.0E-06 0.700 1.000 3 2010 2016
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: rs771654971
rs771654971
BRIP1
2 1.000 0.120 17 61683785 frameshift variant -/T delins 4.0E-06 0.700 0
dbSNP: rs779741278
rs779741278
BRIP1
2 0.925 0.240 17 61683805 frameshift variant -/A delins 4.0E-06 0.700 1.000 4 2010 2016
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: rs748598593
rs748598593
BRIP1
2 0.925 0.200 17 61683838 frameshift variant A/- del 0.700 1.000 2 2010 2011
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: rs763443434
rs763443434
BRIP1
2 1.000 0.120 17 61684041 frameshift variant -/GTCAAGCT delins 2.1E-05 0.700 1.000 2 2010 2011
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 7 2008 2018
dbSNP: rs771028677
rs771028677
BRIP1
4 0.882 0.280 17 61684053 frameshift variant TGTT/-;TGTTTGTT delins 2.1E-05 0.700 1.000 4 2008 2016
dbSNP: rs878855151
rs878855151
BRIP1
4 0.882 0.200 17 61684053 frameshift variant TT/- delins 0.700 0
dbSNP: rs774684620
rs774684620
BRIP1
3 0.925 0.200 17 61684099 frameshift variant T/-;TT delins 0.700 1.000 2 2008 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: rs761639530
rs761639530
BRIP1
2 0.925 0.240 17 61685874 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs140233356
rs140233356
BRIP1
2 0.925 0.240 17 61685911 stop gained G/A;C snv 4.0E-06; 2.8E-04 0.700 0
dbSNP: rs1555573327
rs1555573327
BRIP1
2 0.925 0.200 17 61685949 frameshift variant G/- delins 0.700 1.000 4 2008 2011
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: 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 3 2015 2016
dbSNP: rs752780954
rs752780954
BRIP1
3 0.925 0.200 17 61686008 frameshift variant -/A delins 4.8E-05 1.4E-05 0.700 0
dbSNP: rs760551339
rs760551339
BRIP1
2 1.000 0.120 17 61686054 frameshift variant GGAT/- delins 1.2E-05 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs1567731917
rs1567731917
BRIP1
2 0.925 0.200 17 61686101 frameshift variant G/- delins 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: rs1555573497
rs1555573497
BRIP1
2 0.925 0.200 17 61686152 stop gained C/T snv 0.700 0