Gene: BRIP1 ×
Source: CURATED ×
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: 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: 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: rs777213170
rs777213170
BRIP1
1 1.000 0.080 17 61683837 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs748598593
rs748598593
BRIP1
2 0.925 0.200 17 61683838 frameshift variant A/- del 0.700 1.000 2 2010 2011
dbSNP: rs1342519012
rs1342519012
BRIP1
1 1.000 0.080 17 61683974 frameshift variant C/- delins 8.0E-06 0.700 0
dbSNP: rs771028677
rs771028677
BRIP1
4 0.882 0.280 17 61684053 frameshift variant TGTT/-;TGTTTGTT delins 2.1E-05 0.700 0
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: 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: rs752780954
rs752780954
BRIP1
3 0.925 0.200 17 61686008 frameshift variant -/A delins 4.8E-05 1.4E-05 0.700 0
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
dbSNP: rs587782539
rs587782539
BRIP1
3 0.925 0.200 17 61686166 splice acceptor variant C/T snv 0.700 0
dbSNP: rs869312763
rs869312763
BRIP1
3 0.925 0.200 17 61686167 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555574803
rs1555574803
BRIP1
2 0.925 0.200 17 61693488 stop gained C/T snv 0.700 0
dbSNP: rs786203451
rs786203451
BRIP1
3 0.925 0.200 17 61693513 splice acceptor variant C/G;T snv 4.0E-06 0.700 1.000 3 2005 2011
dbSNP: rs1555580769
rs1555580769
BRIP1
1 1.000 0.080 17 61715952 frameshift variant T/- del 0.700 0
dbSNP: rs786203898
rs786203898
BRIP1
3 0.925 0.200 17 61715964 stop gained G/A;T snv 0.700 0
dbSNP: rs1483527885
rs1483527885
BRIP1
2 0.925 0.200 17 61715978 frameshift variant -/A delins 1.4E-05 0.700 0
dbSNP: rs786204250
rs786204250
BRIP1
1 1.000 0.080 17 61715996 stop gained C/T snv 0.700 0