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: rs1555693714
rs1555693714
BPTF
5 0.882 0.120 17 67975933 stop gained A/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 0