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: rs386833669
rs386833669
PPT1
1 1.000 0.120 1 40074096 missense variant A/G snv 7.0E-06 0.800 1.000 7 1995 2012