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: rs144733372
rs144733372
PLEKHM1
4 0.882 0.120 17 45486856 intron variant T/G snv 0.700 1.000 1 2018 2018