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: rs121918127
rs121918127
INPP5E
1 1.000 0.320 9 136429731 stop gained G/A;C snv 0.710 1.000 1 2019 2019