Gene: STXBP1 ×
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: rs1564351388
rs1564351388
STXBP1
4 0.882 0.080 9 127666193 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs1554776954
rs1554776954
STXBP1
5 1.000 9 127661133 frameshift variant A/- delins 0.700 0
dbSNP: rs794727792
rs794727792
STXBP1
8 0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs796053353
rs796053353
STXBP1
6 0.882 0.120 9 127661192 missense variant C/T snv 0.700 0