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: rs796053361
rs796053361
STXBP1
4 0.925 0.040 9 127668160 missense variant G/A;T snv 0.700 1.000 27 1998 2016