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: rs796053355
rs796053355
STXBP1
2 0.925 0.040 9 127663343 missense variant C/T snv 0.700 1.000 4 2013 2015