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: rs104894232
rs104894232
PUS3 ; HYLS1
4 0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03 0.710 1.000 5 1990 2016