Gene: REEP1 ×
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: rs121918262
rs121918262
REEP1
3 0.882 0.240 2 86282216 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs869312880
rs869312880
REEP1
5 0.882 0.120 2 86232624 splice donor variant C/T snv 0.700 0
dbSNP: rs1364050643
rs1364050643
REEP1
5 0.851 0.240 2 86232711 missense variant G/A snv 0.010 1.000 1 2018 2018