Gene: BPTF ×
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: rs1555639076
rs1555639076
BPTF
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017