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: rs797044800
rs797044800
SMPD1
3 0.925 0.160 11 6392141 missense variant C/A snv 0.710 1.000 2 2016 2016