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: rs119455956
rs119455956
TPP1
2 0.925 0.120 11 6615256 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2001 2001