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: rs4808801
rs4808801
ELL
2 0.925 0.080 19 18460331 intron variant A/G snv 0.45 0.710 1.000 4 2013 2017