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: rs753044214
rs753044214
BPTF
2 1.000 17 67903835 frameshift variant A/-;AA delins 0.700 1.000 19 1995 2017