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: rs748598593
rs748598593
BRIP1
2 0.925 0.200 17 61683838 frameshift variant A/- del 0.700 1.000 2 2010 2011