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: rs121909752
rs121909752
GP1BB ; SEPTIN5 ; SEPT5-GP1BB
4 0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06 0.700 0
dbSNP: rs730882059
rs730882059
GP1BB ; SEPTIN5 ; SEPT5-GP1BB
1 1.000 0.080 22 19723410 3 prime UTR variant C/G snv 7.6E-06 7.0E-06 0.700 0