Gene: BRIP1 ×
Source: CLINVAR ×
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: 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 5 2014 2018
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 4 2005 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 3 2015 2019
dbSNP: rs747604569
rs747604569
BRIP1
3 0.925 0.280 17 61849152 stop gained G/A;T snv 8.0E-06 0.700 1.000 2 2015 2015
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 1 2015 2015
dbSNP: rs575595017
rs575595017
BRIP1
4 0.882 0.280 17 61859808 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs775171520
rs775171520
BRIP1
4 0.882 0.280 17 61793727 stop gained C/A;T snv 2.4E-05 0.700 0
dbSNP: rs786203521
rs786203521
BRIP1
4 0.882 0.280 17 61849195 stop gained -/T delins 0.700 0
dbSNP: rs876660125
rs876660125
BRIP1
1 1.000 0.200 17 61808499 stop gained C/A;G snv 0.700 0