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: rs4791212
rs4791212
BPTF
1 17 67979269 intron variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs60432162
rs60432162
BPTF
2 17 67884422 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT delins 0.700 1.000 1 2016 2016