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: rs1156287
rs1156287
STXBP4
2 0.925 0.080 17 54999438 missense variant G/A snv 0.78 0.79 0.010 1.000 1 2016 2016