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: rs1057518985
rs1057518985
STXBP1
1 1.000 0.040 9 127673233 missense variant C/A;T snv 0.700 0
dbSNP: rs1057519537
rs1057519537
STXBP1
1 1.000 0.040 9 127682423 stop gained G/A snv 0.700 0
dbSNP: rs1057519538
rs1057519538
STXBP1
1 1.000 0.040 9 127651622 inframe deletion AAA/- del 0.700 0
dbSNP: rs1057519539
rs1057519539
STXBP1
1 1.000 0.040 9 127678479 stop gained G/A;T snv 0.700 0
dbSNP: rs796053366
rs796053366
STXBP1
2 0.925 0.040 9 127673250 stop gained C/T snv 0.700 0
dbSNP: rs796053367
rs796053367
STXBP1
2 0.925 0.040 9 127675909 missense variant C/T snv 0.700 0