Gene: PNKP ×
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: rs267606956
rs267606956
PNKP
2 1.000 19 49862424 stop gained C/A;T snv 0.010 1.000 1 2017 2017