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: rs483352925
rs483352925
REEP2
2 0.925 0.160 5 138444447 missense variant T/A snv 0.800 1.000 1 2014 2014
dbSNP: rs483352923
rs483352923
REEP2
3 0.882 0.160 5 138441386 missense variant T/A snv 0.700 1.000 1 2014 2014
dbSNP: rs483352924
rs483352924
REEP2
1 1.000 5 138441091 splice region variant G/T snv 0.700 0